#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
LRRC36	55282	broad.mit.edu	37	16	67397504	67397504	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr16:67397504G>A	ENST00000329956.6	+	6	608	c.589G>A	c.(589-591)Gga>Aga	p.G197R	LRRC36_ENST00000290940.7_5'UTR|LRRC36_ENST00000435835.3_Missense_Mutation_p.G76R|LRRC36_ENST00000563189.1_Missense_Mutation_p.G76R|LRRC36_ENST00000541146.1_5'UTR	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	197										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		CTCAAACAAAGGACTTTTTAT	0.403																																						ENST00000329956.6																			0				endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24						c.(589-591)Gga>Aga		leucine rich repeat containing 36							108.0	98.0	101.0					16																	67397504		2198	4300	6498	SO:0001583	missense	55282							g.chr16:67397504G>A	BC026156	CCDS32467.1, CCDS58474.1	16q22.1	2008-02-05				ENSG00000159708			25615	protein-coding gene	gene with protein product						12477932	Standard	NM_001161575		Approved	FLJ11004	uc002esv.3	Q1X8D7		ENST00000329956.6:c.589G>A	16.37:g.67397504G>A	ENSP00000329943:p.Gly197Arg					LRRC36_ENST00000541146.1_5'UTR|LRRC36_ENST00000290940.7_5'UTR|LRRC36_ENST00000435835.3_Missense_Mutation_p.G76R|LRRC36_ENST00000563189.1_Missense_Mutation_p.G76R	p.G197R	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)	6	608	+		Ovarian(137;0.192)	197					A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Missense_Mutation	SNP	ENST00000329956.6	37	c.589G>A	CCDS32467.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340810	0.81911	.	.	ENSG00000159708	ENST00000329956;ENST00000435835	T;T	0.55413	2.74;0.52	5.72	4.76	0.60689	.	0.240213	0.33457	N	0.004897	T	0.45975	0.1369	N	0.22421	0.69	0.80722	D	1	D;D;D	0.60160	0.987;0.987;0.964	P;P;P	0.53518	0.728;0.728;0.728	T	0.17930	-1.0353	10	0.23302	T	0.38	-12.1055	9.651	0.39897	0.0921:0.0:0.9079:0.0	.	76;76;197	B7Z7B3;Q1X8D7-2;Q1X8D7	.;.;LRC36_HUMAN	R	197;76	ENSP00000329943:G197R;ENSP00000411122:G76R	ENSP00000329943:G197R	G	+	1	0	LRRC36	65955005	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.987000	0.49378	2.684000	0.91462	0.563000	0.77884	GGA		0.403	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421770.1	NM_018296		21	35	0	0	0	1	0	21	35				
CACNA1G	8913	broad.mit.edu	37	17	48692763	48692763	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr17:48692763C>T	ENST00000359106.5	+	27	4801	c.4801C>T	c.(4801-4803)Cgg>Tgg	p.R1601W	CACNA1G_ENST00000507896.1_Missense_Mutation_p.R1590W|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R1567W|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R1544W|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R1583W|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R1601W|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R1608W|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R1556W|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R1601W|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R1556W|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R1601W|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R1590W|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R1578W|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R1590W|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R1578W|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R1567W|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R1549W|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R1601W|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R1583W|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R1583W|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R1560W|CACNA1G_ENST00000352832.5_Missense_Mutation_p.R1567W|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R1590W|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R1567W|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R1567W	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1601					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)	CTCCCGCTTCCGGCTCCTCGT	0.622																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(4699-4701)Cgg>Tgg		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)						59.0	63.0	62.0					17																	48692763		2039	4191	6230	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48692763C>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.4801C>T	17.37:g.48692763C>T	ENSP00000352011:p.Arg1601Trp					CACNA1G_ENST00000503485.1_Missense_Mutation_p.R1567W|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R1583W|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R1608W|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R1556W|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R1556W|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R1544W|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R1583W|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R1549W|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R1567W|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R1590W|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R1590W|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R1601W|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R1601W|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R1578W|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R1590W|CACNA1G_ENST00000359106.5_Missense_Mutation_p.R1601W|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R1601W|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R1578W|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R1567W|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R1590W|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R1583W|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R1601W|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R1560W|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R1567W	p.R1567W	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)		25	5071	+	Breast(11;6.7e-17)		1601					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	Missense_Mutation	SNP	ENST00000359106.5	37	c.4699C>T	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	c	23.6	4.437207	0.83885	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97710	-4.45;-4.44;-4.4;-4.46;-4.43;-4.46;-4.5;-4.42;-4.48;-4.46;-4.41;-4.42;-4.43;-4.43;-4.38;-4.46;-4.46;-4.4;-4.4;-4.43;-4.43;-4.48;-4.43;-4.45;-4.45	4.75	4.75	0.60458	.	0.062429	0.64402	D	0.000003	D	0.98927	0.9636	M	0.89601	3.045	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.988;1.0;0.997;0.996;0.999;0.997;0.994;0.999;0.994;1.0;0.999;1.0;0.999;0.999;0.997;1.0;0.998;0.999;0.999;1.0;0.988;0.999;0.999;1.0;0.998	D	0.99802	1.1036	10	0.87932	D	0	.	17.7327	0.88383	0.0:1.0:0.0:0.0	.	1544;1556;1549;1583;1556;1583;1608;1567;1601;1590;1601;1578;1590;1590;1583;1590;1601;1578;1601;1567;1560;1567;1578;1601;1567	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.	W	1578;1567;1567;1560;1578;1590;1556;1544;1549;1567;1601;1590;1556;1601;1567;1601;1583;1590;1608;1567;1601;1583;1583;1601;1590	ENSP00000353990:R1578W;ENSP00000339302:R1567W;ENSP00000347078:R1567W;ENSP00000409759:R1560W;ENSP00000425522:R1578W;ENSP00000426261:R1590W;ENSP00000425451:R1556W;ENSP00000422407:R1544W;ENSP00000426814:R1549W;ENSP00000427238:R1567W;ENSP00000423112:R1601W;ENSP00000420918:R1590W;ENSP00000426172:R1556W;ENSP00000423045:R1601W;ENSP00000427173:R1567W;ENSP00000426098:R1601W;ENSP00000425698:R1583W;ENSP00000426232:R1590W;ENSP00000423317:R1608W;ENSP00000350979:R1567W;ENSP00000352011:R1601W;ENSP00000414388:R1583W;ENSP00000423155:R1583W;ENSP00000422268:R1601W;ENSP00000421518:R1590W	ENSP00000339302:R1567W	R	+	1	2	CACNA1G	46047762	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.771000	0.68881	2.170000	0.68504	0.462000	0.41574	CGG		0.622	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		16	48	0	0	0	1	0	16	48				
PLB1	151056	broad.mit.edu	37	2	28825739	28825739	+	Missense_Mutation	SNP	C	C	T	rs148017311	byFrequency	TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr2:28825739C>T	ENST00000327757.5	+	39	2769	c.2725C>T	c.(2725-2727)Cgg>Tgg	p.R909W	PLB1_ENST00000422425.2_Missense_Mutation_p.R898W|PLB1_ENST00000541605.1_5'UTR	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	909	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CACTATCATGCGGCAGGTGTT	0.607													C|||	2	0.000399361	0.0015	0.0	5008	,	,		20218	0.0		0.0	False		,,,				2504	0.0					ENST00000422425.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69						c.(2692-2694)Cgg>Tgg		phospholipase B1		C	TRP/ARG,TRP/ARG	4,4402	8.1+/-20.4	0,4,2199	141.0	132.0	135.0		2692,2725	2.1	0.3	2	dbSNP_134	135	0,8600		0,0,4300	yes	missense,missense	PLB1	NM_001170585.1,NM_153021.4	101,101	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	benign,benign	898/1448,909/1459	28825739	4,13002	2203	4300	6503	SO:0001583	missense	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28825739C>T		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.2725C>T	2.37:g.28825739C>T	ENSP00000330442:p.Arg909Trp					PLB1_ENST00000327757.5_Missense_Mutation_p.R909W|PLB1_ENST00000541605.1_5'UTR	p.R898W	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN			38	2736	+	Acute lymphoblastic leukemia(172;0.155)		909			4 X 308-326 AA approximate repeats.		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	ENST00000327757.5	37	c.2692C>T	CCDS33168.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	9.405	1.078955	0.20227	9.08E-4	0.0	ENSG00000163803	ENST00000327757;ENST00000422425	T;T	0.22336	1.96;1.96	6.07	2.08	0.27032	Esterase, SGNH hydrolase-type (1);Lipase, GDSL (1);	0.000000	0.64402	D	0.000018	T	0.26919	0.0659	M	0.88377	2.95	0.80722	D	1	P;P	0.37548	0.599;0.546	B;B	0.35353	0.201;0.141	T	0.05321	-1.0892	10	0.33940	T	0.23	-32.9183	8.7649	0.34698	0.5595:0.3686:0.0:0.0719	.	898;909	Q6P1J6-3;Q6P1J6	.;PLB1_HUMAN	W	909;898	ENSP00000330442:R909W;ENSP00000416440:R898W	ENSP00000330442:R909W	R	+	1	2	PLB1	28679243	0.304000	0.24472	0.330000	0.25442	0.052000	0.14988	0.485000	0.22324	0.439000	0.26476	-0.137000	0.14449	CGG		0.607	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			22	126	0	0	0	1	0	22	126				
INTS1	26173	broad.mit.edu	37	7	1538159	1538159	+	Silent	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr7:1538159C>T	ENST00000404767.3	-	10	1399	c.1314G>A	c.(1312-1314)ctG>ctA	p.L438L	INTS1_ENST00000389470.4_Silent_p.L566L|INTS1_ENST00000493531.1_5'Flank	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	438					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TGGTGGTGCCCAGGTTGTCCT	0.627																																						ENST00000389470.4																			0				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62						c.(1696-1698)ctG>ctA		integrator complex subunit 1							88.0	102.0	97.0					7																	1538159		2134	4245	6379	SO:0001819	synonymous_variant	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1538159C>T	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.1314G>A	7.37:g.1538159C>T						INTS1_ENST00000404767.3_Silent_p.L438L	p.L566L			Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	11	1697	-		Ovarian(82;0.0253)	438					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Silent	SNP	ENST00000404767.3	37	c.1698G>A	CCDS47526.1																																																																																				0.627	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			5	46	0	0	0	1	0	5	46				
PLCB4	5332	broad.mit.edu	37	20	9388585	9388585	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr20:9388585G>A	ENST00000378493.1	+	18	1648	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K	PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378501.2_Missense_Mutation_p.E545K|PLCB4_ENST00000278655.4_Missense_Mutation_p.E545K|PLCB4_ENST00000334005.3_Missense_Mutation_p.E545K|PLCB4_ENST00000414679.2_Missense_Mutation_p.E557K|PLCB4_ENST00000378473.3_Missense_Mutation_p.E557K			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	545					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TGTAGAAGATGAGCAGGCGTG	0.428																																						ENST00000378501.2																			0				NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(1633-1635)Gag>Aag		phospholipase C, beta 4							152.0	138.0	143.0					20																	9388585		2203	4300	6503	SO:0001583	missense	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9388585G>A		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.1633G>A	20.37:g.9388585G>A	ENSP00000367754:p.Glu545Lys					PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.E557K|PLCB4_ENST00000414679.2_Missense_Mutation_p.E557K|PLCB4_ENST00000334005.3_Missense_Mutation_p.E545K|PLCB4_ENST00000278655.4_Missense_Mutation_p.E545K|PLCB4_ENST00000378493.1_Missense_Mutation_p.E545K	p.E545K	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN			18	1648	+			545					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.1633G>A	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	G	32	5.141471	0.94560	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57	5.56	5.56	0.83823	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.000000	0.85682	D	0.000000	T	0.66157	0.2761	L	0.57536	1.79	0.80722	D	1	P;B;P;P	0.52842	0.807;0.395;0.956;0.936	B;B;D;P	0.65010	0.344;0.268;0.931;0.692	T	0.58228	-0.7673	10	0.08179	T	0.78	.	19.5275	0.95212	0.0:0.0:1.0:0.0	.	557;392;545;545	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	K	545;557;545;545;545;393	ENSP00000334105:E545K;ENSP00000367734:E557K;ENSP00000278655:E545K;ENSP00000367754:E545K;ENSP00000367762:E545K;ENSP00000390616:E393K	ENSP00000278655:E545K	E	+	1	0	PLCB4	9336585	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.616000	0.88540	0.563000	0.77884	GAG		0.428	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			26	98	0	0	0	1	0	26	98				
UTP14A	10813	broad.mit.edu	37	X	129060290	129060290	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chrX:129060290G>A	ENST00000394422.3	+	14	2046	c.2018G>A	c.(2017-2019)cGc>cAc	p.R673H	RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371042.3_Missense_Mutation_p.R505H|UTP14A_ENST00000371051.5_Missense_Mutation_p.R619H|UTP14A_ENST00000425117.2_Missense_Mutation_p.R621H	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	673					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						AATGAGAAGCGCAACATCCAC	0.458											OREG0019920	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000394422.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						c.(2017-2019)cGc>cAc		UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)							76.0	71.0	73.0					X																	129060290		2203	4300	6503	SO:0001583	missense	10813				rRNA processing	nucleolus|small-subunit processome	protein binding	g.chrX:129060290G>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.2018G>A	X.37:g.129060290G>A	ENSP00000377944:p.Arg673His		OREG0019920	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1569	RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Missense_Mutation_p.R621H|UTP14A_ENST00000371051.5_Missense_Mutation_p.R619H|UTP14A_ENST00000371042.3_Missense_Mutation_p.R505H	p.R673H	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN			14	2046	+			673					A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Missense_Mutation	SNP	ENST00000394422.3	37	c.2018G>A	CCDS14615.1	.	.	.	.	.	.	.	.	.	.	G	32	5.167281	0.94768	.	.	ENSG00000156697	ENST00000425117;ENST00000394422;ENST00000371051;ENST00000371042	T;T;T;T	0.21543	2.0;2.0;2.0;2.0	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.48750	0.1517	M	0.85945	2.785	0.58432	D	0.999999	D;D;D	0.76494	0.989;0.999;0.984	P;D;P	0.64144	0.707;0.922;0.806	T	0.45571	-0.9252	10	0.15499	T	0.54	-6.1174	19.0832	0.93190	0.0:0.0:1.0:0.0	.	619;621;673	F8WD00;E9PEL7;Q9BVJ6	.;.;UT14A_HUMAN	H	621;673;619;505	ENSP00000388669:R621H;ENSP00000377944:R673H;ENSP00000360090:R619H;ENSP00000360081:R505H	ENSP00000360081:R505H	R	+	2	0	UTP14A	128887971	1.000000	0.71417	0.997000	0.53966	0.968000	0.65278	8.834000	0.92094	2.562000	0.86427	0.600000	0.82982	CGC		0.458	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1	NM_006649		3	35	0	0	0	1	0	3	35				
PSMB4	5692	broad.mit.edu	37	1	151372586	151372586	+	Silent	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr1:151372586C>T	ENST00000290541.6	+	2	324	c.270C>T	c.(268-270)gtC>gtT	p.V90V		NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	proteasome (prosome, macropain) subunit, beta type, 4	90					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	lipopolysaccharide binding (GO:0001530)|threonine-type endopeptidase activity (GO:0004298)			endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TTATGCGAGTCAACAACAGTA	0.537																																						ENST00000290541.6																			0				endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14						c.(268-270)gtC>gtT		proteasome (prosome, macropain) subunit, beta type, 4							176.0	174.0	175.0					1																	151372586		2203	4300	6503	SO:0001819	synonymous_variant	5692				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr1:151372586C>T	D26600	CCDS996.1	1q21	2008-02-05			ENSG00000159377	ENSG00000159377		"""Proteasome (prosome, macropain) subunits"""	9541	protein-coding gene	gene with protein product		602177				7918633	Standard	NM_002796		Approved	HN3, PROS26	uc001eyc.1	P28070	OTTHUMG00000012494	ENST00000290541.6:c.270C>T	1.37:g.151372586C>T							p.V90V	NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		2	324	+	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		90					B2R9L3|P31148|Q5SZS5|Q6IBI4|Q969L6	Silent	SNP	ENST00000290541.6	37	c.270C>T	CCDS996.1																																																																																				0.537	PSMB4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034885.1	NM_002796		36	193	0	0	0	1	0	36	193				
IMPG2	50939	broad.mit.edu	37	3	100963365	100963365	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr3:100963365C>A	ENST00000193391.7	-	13	1997	c.1810G>T	c.(1810-1812)Ggg>Tgg	p.G604W		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	604					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	TGCCCAGACCCTGAACCTAAA	0.463																																						ENST00000193391.7																			0				NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(1810-1812)Ggg>Tgg		interphotoreceptor matrix proteoglycan 2							147.0	138.0	141.0					3																	100963365		2203	4300	6503	SO:0001583	missense	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:100963365C>A	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.1810G>T	3.37:g.100963365C>A	ENSP00000193391:p.Gly604Trp						p.G604W	NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN			13	1997	-			604					A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	37	c.1810G>T	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.109962	0.37242	.	.	ENSG00000081148	ENST00000193391	T	0.61274	0.12	5.88	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.66934	0.2840	L	0.32530	0.975	0.37463	D	0.915289	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.74103	-0.3773	10	0.87932	D	0	-14.0184	14.8947	0.70636	0.1432:0.8568:0.0:0.0	.	604;604	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	W	604	ENSP00000193391:G604W	ENSP00000193391:G604W	G	-	1	0	IMPG2	102446055	1.000000	0.71417	0.992000	0.48379	0.155000	0.21991	2.919000	0.48836	1.479000	0.48272	0.655000	0.94253	GGG		0.463	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			21	113	1	0	2.32416e-17	1	2.49017e-17	21	113				
OCA2	4948	broad.mit.edu	37	15	28090163	28090163	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr15:28090163C>T	ENST00000354638.3	-	23	2529	c.2374G>A	c.(2374-2376)Gtg>Atg	p.V792M	OCA2_ENST00000353809.5_Missense_Mutation_p.V768M	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	792					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CCTGCACACACGACGTTTGCC	0.403									Oculocutaneous Albinism																													ENST00000354638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(2374-2376)Gtg>Atg		oculocutaneous albinism II							66.0	66.0	66.0					15																	28090163		2203	4300	6503	SO:0001583	missense	4948	Oculocutaneous Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28090163C>T		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.2374G>A	15.37:g.28090163C>T	ENSP00000346659:p.Val792Met					OCA2_ENST00000353809.5_Missense_Mutation_p.V768M	p.V792M	NM_000275.2	NP_000266.2	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	23	2529	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	792					Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	ENST00000354638.3	37	c.2374G>A	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.306618	0.60305	.	.	ENSG00000104044	ENST00000354638;ENST00000353809	D;D	0.82433	-1.61;-1.61	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.92808	0.7713	M	0.89601	3.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.982	D	0.93873	0.7164	10	0.87932	D	0	-23.1008	17.2417	0.87015	0.0:1.0:0.0:0.0	.	768;792	Q04671-2;Q04671	.;P_HUMAN	M	792;768	ENSP00000346659:V792M;ENSP00000261276:V768M	ENSP00000261276:V768M	V	-	1	0	OCA2	25763758	1.000000	0.71417	0.446000	0.26920	0.069000	0.16628	7.101000	0.76997	2.653000	0.90120	0.655000	0.94253	GTG		0.403	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		11	26	0	0	0	1	0	11	26				
AHNAK2	113146	broad.mit.edu	37	14	105412777	105412777	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr14:105412777G>C	ENST00000333244.5	-	7	9130	c.9011C>G	c.(9010-9012)tCt>tGt	p.S3004C	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3004						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTTCGGCGCAGACACATCCAC	0.592																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(9010-9012)tCt>tGt		AHNAK nucleoprotein 2							241.0	253.0	249.0					14																	105412777		2016	4157	6173	SO:0001583	missense	113146					nucleus		g.chr14:105412777G>C	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9011C>G	14.37:g.105412777G>C	ENSP00000353114:p.Ser3004Cys					AHNAK2_ENST00000557457.1_Intron	p.S3004C	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	9130	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3004					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.9011C>G	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	14.23	2.473321	0.43942	.	.	ENSG00000185567	ENST00000333244	T	0.01379	4.96	4.35	2.33	0.28932	.	.	.	.	.	T	0.04724	0.0128	M	0.62088	1.915	0.09310	N	1	D	0.69078	0.997	P	0.57468	0.821	T	0.30090	-0.9990	9	0.59425	D	0.04	.	10.5949	0.45331	0.0:0.3948:0.6052:0.0	.	3004	Q8IVF2	AHNK2_HUMAN	C	3004	ENSP00000353114:S3004C	ENSP00000353114:S3004C	S	-	2	0	AHNAK2	104483822	.	.	0.001000	0.08648	0.006000	0.05464	.	.	0.796000	0.33947	0.485000	0.47835	TCT		0.592	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		91	436	0	0	0	1	0	91	436				
CEL	1056	broad.mit.edu	37	9	135946421	135946421	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr9:135946421A>G	ENST00000372080.4	+	11	1557	c.1541A>G	c.(1540-1542)tAc>tGc	p.Y514C	CEL_ENST00000351304.7_Missense_Mutation_p.Y445C	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	511					cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		TGGGAACCCTACACTACGGAA	0.612																																						ENST00000372080.4																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20						c.(1540-1542)tAc>tGc		carboxyl ester lipase							40.0	49.0	46.0					9																	135946421		2036	4193	6229	SO:0001583	missense	1056				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	g.chr9:135946421A>G	M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"""bile salt-stimulated lipase"""	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.1541A>G	9.37:g.135946421A>G	ENSP00000361151:p.Tyr514Cys					CEL_ENST00000351304.7_Missense_Mutation_p.Y445C	p.Y514C	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)	11	1557	+			511					Q16398|Q5T7U7|Q9UCH1|Q9UP41	Missense_Mutation	SNP	ENST00000372080.4	37	c.1541A>G	CCDS43896.1	.	.	.	.	.	.	.	.	.	.	A	13.68	2.308841	0.40895	.	.	ENSG00000170835	ENST00000372080;ENST00000351304;ENST00000303626	T;T	0.62364	0.03;0.03	5.04	5.04	0.67666	Carboxylesterase, type B (1);	0.114300	0.64402	D	0.000009	T	0.77329	0.4114	M	0.70595	2.14	0.22803	N	0.998716	D	0.89917	1.0	D	0.97110	1.0	T	0.70850	-0.4760	10	0.87932	D	0	.	13.6044	0.62039	1.0:0.0:0.0:0.0	.	511	P19835	CEL_HUMAN	C	514;445;513	ENSP00000361151:Y514C;ENSP00000342217:Y445C	ENSP00000304021:Y513C	Y	+	2	0	CEL	134936242	1.000000	0.71417	1.000000	0.80357	0.170000	0.22686	4.645000	0.61404	1.904000	0.55121	0.247000	0.18012	TAC		0.612	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054823.1			8	62	0	0	0	1	0	8	62				
OSBPL7	114881	broad.mit.edu	37	17	45896398	45896398	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr17:45896398G>T	ENST00000007414.3	-	5	514	c.323C>A	c.(322-324)gCc>gAc	p.A108D	OSBPL7_ENST00000392507.3_Missense_Mutation_p.A108D	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	108	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to cholesterol (GO:0071397)|lipid transport (GO:0006869)|positive regulation of proteasomal protein catabolic process (GO:1901800)	autophagic vacuole (GO:0005776)|cytosol (GO:0005829)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						AATGCGCTGGGCCTTTTTGTT	0.562																																						ENST00000007414.3																			0				autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(322-324)gCc>gAc		oxysterol binding protein-like 7							186.0	140.0	155.0					17																	45896398		2203	4300	6503	SO:0001583	missense	114881				lipid transport		lipid binding	g.chr17:45896398G>T	AF392446	CCDS11515.1	17q21	2013-01-10				ENSG00000006025		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16387	protein-coding gene	gene with protein product		606735				14593528, 11735225	Standard	NM_145798		Approved	ORP7, MGC71150	uc002ilx.1	Q9BZF2		ENST00000007414.3:c.323C>A	17.37:g.45896398G>T	ENSP00000007414:p.Ala108Asp					OSBPL7_ENST00000392507.3_Missense_Mutation_p.A108D	p.A108D	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN			5	514	-			108			PH.		D3DTT6|Q6PIV6	Missense_Mutation	SNP	ENST00000007414.3	37	c.323C>A	CCDS11515.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.332065	0.60853	.	.	ENSG00000006025	ENST00000007414;ENST00000392507	T;T	0.18657	2.2;2.2	5.35	5.35	0.76521	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.122159	0.64402	D	0.000011	T	0.34919	0.0914	L	0.41710	1.295	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.02683	-1.1124	10	0.13470	T	0.59	-29.0227	15.9951	0.80234	0.0:0.0:1.0:0.0	.	108	Q9BZF2	OSBL7_HUMAN	D	108	ENSP00000007414:A108D;ENSP00000376295:A108D	ENSP00000007414:A108D	A	-	2	0	OSBPL7	43251397	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.280000	0.95786	2.504000	0.84457	0.655000	0.94253	GCC		0.562	OSBPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441367.1	NM_017731		6	79	1	0	0.00198382	1	0.00202056	6	79				
CNTNAP3B	728577	broad.mit.edu	37	9	43737512	43737512	+	Missense_Mutation	SNP	A	A	C			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr9:43737512A>C	ENST00000377564.3	+	3	775	c.382A>C	c.(382-384)Agc>Cgc	p.S128R	CNTNAP3B_ENST00000276974.6_Missense_Mutation_p.S128R	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	128	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						CCGAGAAGAAAGCATCTGGGT	0.413																																						ENST00000377564.3																			0				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						c.(382-384)Agc>Cgc		contactin associated protein-like 3B																																				SO:0001583	missense	728577				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr9:43737512A>C	BX538190	CCDS75836.1	9p12	2007-12-14			ENSG00000154529	ENSG00000154529			32035	protein-coding gene	gene with protein product						15820314	Standard	XM_006716853		Approved		uc004abr.1	Q96NU0	OTTHUMG00000013174	ENST00000377564.3:c.382A>C	9.37:g.43737512A>C	ENSP00000366787:p.Ser128Arg					CNTNAP3B_ENST00000276974.6_Missense_Mutation_p.S128R	p.S128R	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN			3	775	+			128			F5/8 type C.		B1B0V7|B1B0V8|B1B0V9|B1B0W0|B1B0X8|B1B162|Q4VXF0|Q9H7W3	Missense_Mutation	SNP	ENST00000377564.3	37	c.382A>C	CCDS55312.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.26|15.26	2.779609|2.779609	0.49891|0.49891	.|.	.|.	ENSG00000154529|ENSG00000154529	ENST00000377561|ENST00000377564;ENST00000276974;ENST00000341990;ENST00000403166	.|D;D	.|0.97455	.|-4.39;-4.39	2.76|2.76	2.76|2.76	0.32466|0.32466	.|.	.|.	.|.	.|.	.|.	D|D	0.96084|0.96084	0.8724|0.8724	L|L	0.52823|0.52823	1.66|1.66	0.28867|0.28867	N|N	0.895188|0.895188	.|.	.|.	.|.	.|.	.|.	.|.	D|D	0.92803|0.92803	0.6258|0.6258	5|7	.|0.54805	.|T	.|0.06	.|.	9.9715|9.9715	0.41757|0.41757	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	N|R	176|128	.|ENSP00000366787:S128R;ENSP00000276974:S128R	.|ENSP00000276974:S128R	K|S	+|+	3|1	2|0	CNTNAP3B|CNTNAP3B	43677508|43677508	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.783000|0.783000	0.44284|0.44284	5.862000|5.862000	0.69560|0.69560	1.261000|1.261000	0.44149|0.44149	0.411000|0.411000	0.27672|0.27672	AAA|AGC		0.413	CNTNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036930.3			18	123	0	0	0	1	0	18	123				
NET1	10276	broad.mit.edu	37	10	5498681	5498681	+	Silent	SNP	G	G	A	rs139773413		TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr10:5498681G>A	ENST00000355029.4	+	12	1657	c.1515G>A	c.(1513-1515)tcG>tcA	p.S505S	NET1_ENST00000380359.3_Silent_p.S451S|NET1_ENST00000542715.1_Silent_p.S324S	NM_001047160.2	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	505					apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|myoblast migration (GO:0051451)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						CCTTCCAGTCGGCAGGCAGTC	0.612																																						ENST00000355029.4																			0				breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						c.(1513-1515)tcG>tcA		neuroepithelial cell transforming 1		G	,	0,4406		0,0,2203	64.0	60.0	61.0		1515,1353	2.5	0.0	10	dbSNP_134	61	2,8598	2.2+/-6.3	0,2,4298	yes	coding-synonymous,coding-synonymous	NET1	NM_001047160.1,NM_005863.3	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	505/597,451/543	5498681	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10276				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity	g.chr10:5498681G>A	AJ010046	CCDS7067.1, CCDS41483.1	10p15	2013-01-10	2008-09-12		ENSG00000173848	ENSG00000173848		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14592	protein-coding gene	gene with protein product		606450				8649828	Standard	NR_073040		Approved	ARHGEF8, NET1A	uc001iia.4	Q7Z628	OTTHUMG00000017596	ENST00000355029.4:c.1515G>A	10.37:g.5498681G>A						NET1_ENST00000380359.3_Silent_p.S451S|NET1_ENST00000542715.1_Silent_p.S324S	p.S505S	NM_001047160.1	NP_001040625.1	Q7Z628	ARHG8_HUMAN			12	1657	+			505					Q12773|Q96D82|Q99903|Q9UEN6	Silent	SNP	ENST00000355029.4	37	c.1515G>A	CCDS41483.1																																																																																				0.612	NET1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046553.3	NM_005863		29	75	0	0	0	1	0	29	75				
GPR98	84059	broad.mit.edu	37	5	90040955	90040955	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr5:90040955G>A	ENST00000405460.2	+	51	10738	c.10642G>A	c.(10642-10644)Gct>Act	p.A3548T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3548	Calx-beta 23. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGTACCTTCTGCTTATGATGT	0.403																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(10642-10644)Gct>Act		G protein-coupled receptor 98							305.0	291.0	296.0					5																	90040955		1868	4090	5958	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90040955G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.10642G>A	5.37:g.90040955G>A	ENSP00000384582:p.Ala3548Thr						p.A3548T	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	51	10738	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	3548					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.10642G>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258159	0.80246	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.41400	1.0	5.48	5.48	0.80851	.	0.046141	0.85682	D	0.000000	T	0.56292	0.1975	M	0.64997	1.995	0.80722	D	1	D;D	0.65815	0.995;0.991	P;P	0.58660	0.843;0.727	T	0.55029	-0.8204	10	0.45353	T	0.12	.	14.2307	0.65890	0.0:0.0:0.8508:0.1492	.	3548;3548	E7ETI5;Q8WXG9	.;GPR98_HUMAN	T	3548	ENSP00000384582:A3548T	ENSP00000296619:A3548T	A	+	1	0	GPR98	90076711	1.000000	0.71417	0.962000	0.40283	0.578000	0.36192	6.664000	0.74437	2.587000	0.87381	0.650000	0.86243	GCT		0.403	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		73	94	0	0	0	1	0	73	94				
GLI3	2737	broad.mit.edu	37	7	42079725	42079725	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr7:42079725G>A	ENST00000395925.3	-	7	1024	c.940C>T	c.(940-942)Ccc>Tcc	p.P314S	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	314					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						AAGGAGTTGGGAGACGTCCTT	0.498									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(940-942)Ccc>Tcc		GLI family zinc finger 3							206.0	177.0	187.0					7																	42079725		2203	4300	6503	SO:0001583	missense	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42079725G>A		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.940C>T	7.37:g.42079725G>A	ENSP00000379258:p.Pro314Ser					GLI3_ENST00000479210.1_5'UTR	p.P314S	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			7	1024	-			314					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.940C>T	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.960860	0.92791	.	.	ENSG00000106571	ENST00000395925	T	0.68025	-0.3	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.84660	0.5521	M	0.84511	2.7	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.86208	0.1623	10	0.87932	D	0	.	19.9813	0.97326	0.0:0.0:1.0:0.0	.	314	P10071	GLI3_HUMAN	S	314	ENSP00000379258:P314S	ENSP00000379258:P314S	P	-	1	0	GLI3	42046250	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.857000	0.99534	2.726000	0.93360	0.655000	0.94253	CCC		0.498	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		47	41	0	0	0	1	0	47	41				
GLI3	2737	broad.mit.edu	37	7	42088212	42088212	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr7:42088212G>A	ENST00000395925.3	-	5	641	c.557C>T	c.(556-558)tCc>tTc	p.S186F	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	186					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GGGAGACTCGGAAGCAGCAGT	0.542									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(556-558)tCc>tTc		GLI family zinc finger 3							130.0	135.0	133.0					7																	42088212		2203	4300	6503	SO:0001583	missense	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42088212G>A		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.557C>T	7.37:g.42088212G>A	ENSP00000379258:p.Ser186Phe					GLI3_ENST00000479210.1_5'UTR	p.S186F	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			5	641	-			186					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.557C>T	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.744920	0.69418	.	.	ENSG00000106571	ENST00000395925	T	0.41065	1.01	5.55	5.55	0.83447	.	0.108119	0.64402	D	0.000004	T	0.52322	0.1727	L	0.34521	1.04	0.80722	D	1	D	0.64830	0.994	P	0.58331	0.837	T	0.52358	-0.8586	10	0.66056	D	0.02	.	19.8824	0.96903	0.0:0.0:1.0:0.0	.	186	P10071	GLI3_HUMAN	F	186	ENSP00000379258:S186F	ENSP00000379258:S186F	S	-	2	0	GLI3	42054737	1.000000	0.71417	0.093000	0.20910	0.874000	0.50279	6.571000	0.74000	2.785000	0.95823	0.591000	0.81541	TCC		0.542	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		12	87	0	0	0	1	0	12	87				
RIPK1	8737	broad.mit.edu	37	6	3113558	3113558	+	Silent	SNP	C	C	T	rs373199261		TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr6:3113558C>T	ENST00000259808.4	+	11	2299	c.2001C>T	c.(1999-2001)taC>taT	p.Y667Y	RIPK1_ENST00000380409.2_Silent_p.Y667Y|RIPK1_ENST00000541791.1_Silent_p.Y621Y			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	667	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|amyloid fibril formation (GO:1990000)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to tumor necrosis factor (GO:0071356)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of ATP:ADP antiporter activity (GO:0070926)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to tumor necrosis factor (GO:0034612)|ripoptosome assembly (GO:0097343)|ripoptosome assembly involved in necroptotic process (GO:1901026)|T cell apoptotic process (GO:0070231)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|death domain binding (GO:0070513)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				GCTTGATTTACGTCAGCCAGA	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		19065	0.0		0.0	False		,,,				2504	0.001					ENST00000259808.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						c.(1999-2001)taC>taT		receptor (TNFRSF)-interacting serine-threonine kinase 1		C		0,4406		0,0,2203	48.0	45.0	46.0		2001	-8.6	0.0	6		46	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RIPK1	NM_003804.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		667/672	3113558	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8737				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity	g.chr6:3113558C>T	U25994	CCDS4482.1	6p25.2	2008-02-05			ENSG00000137275	ENSG00000137275			10019	protein-coding gene	gene with protein product		603453				7538908, 8612133	Standard	XM_005249458		Approved	RIP	uc003mux.3	Q13546	OTTHUMG00000014134	ENST00000259808.4:c.2001C>T	6.37:g.3113558C>T						RIPK1_ENST00000380409.2_Silent_p.Y667Y|RIPK1_ENST00000541791.1_Silent_p.Y621Y	p.Y667Y			Q13546	RIPK1_HUMAN			11	2299	+	Ovarian(93;0.0386)	all_hematologic(90;0.0895)	667			Death.		A0AV89|B2RAG1|B4E3F9|Q13180|Q59H33	Silent	SNP	ENST00000259808.4	37	c.2001C>T	CCDS4482.1																																																																																				0.557	RIPK1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039659.2	NM_003804		3	47	0	0	0	1	0	3	47				
BBS10	79738	broad.mit.edu	37	12	76741101	76741101	+	Missense_Mutation	SNP	T	T	G			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr12:76741101T>G	ENST00000393262.3	-	2	747	c.664A>C	c.(664-666)Aat>Cat	p.N222H		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	222					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|regulation of protein complex assembly (GO:0043254)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell projection (GO:0042995)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						ACACCAACATTCAACTCTACA	0.403									Bardet-Biedl syndrome																													ENST00000393262.3																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						c.(664-666)Aat>Cat		Bardet-Biedl syndrome 10							104.0	94.0	97.0					12																	76741101		2203	4300	6503	SO:0001583	missense	79738	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding	g.chr12:76741101T>G	BC026355	CCDS9014.2	12q21.2	2014-06-17	2006-04-28	2006-04-28	ENSG00000179941	ENSG00000179941		"""Heat Shock Proteins / Chaperonins"""	26291	protein-coding gene	gene with protein product		610148	"""chromosome 12 open reading frame 58"""	C12orf58		16582908	Standard	NM_024685		Approved	FLJ23560	uc001syd.1	Q8TAM1	OTTHUMG00000147352	ENST00000393262.3:c.664A>C	12.37:g.76741101T>G	ENSP00000376946:p.Asn222His						p.N222H	NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN			2	747	-			222					Q96CW2|Q9H5D2	Missense_Mutation	SNP	ENST00000393262.3	37	c.664A>C	CCDS9014.2	.	.	.	.	.	.	.	.	.	.	T	3.418	-0.118693	0.06838	.	.	ENSG00000179941	ENST00000393262	T	0.78595	-1.19	5.13	3.91	0.45181	.	0.545049	0.19024	N	0.124740	T	0.59542	0.2201	L	0.31207	0.915	0.32451	N	0.545458	B	0.14438	0.01	B	0.14023	0.01	T	0.54728	-0.8250	10	0.08599	T	0.76	-2.9513	6.1125	0.20108	0.1374:0.0:0.2771:0.5855	.	222	Q8TAM1	BBS10_HUMAN	H	222	ENSP00000376946:N222H	ENSP00000376946:N222H	N	-	1	0	BBS10	75265232	1.000000	0.71417	0.897000	0.35233	0.881000	0.50899	2.800000	0.47900	2.281000	0.76405	0.528000	0.53228	AAT		0.403	BBS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303983.2	NM_024685		8	19	0	0	0	1	0	8	19				
CDKN2A	1029	broad.mit.edu	37	9	21971186	21971186	+	Nonsense_Mutation	SNP	G	G	A	rs121913387		TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr9:21971186G>A	ENST00000304494.5	-	2	442	c.172C>T	c.(172-174)Cga>Tga	p.R58*	CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	58			R -> Q (in dbSNP:rs36204273).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCCGCCACTCGGGCGCTGCCC	0.677		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1459	Whole gene deletion(1316)|Substitution - Nonsense(78)|Unknown(45)|Deletion - Frameshift(10)|Deletion - In frame(4)|Substitution - Missense(3)|Insertion - Frameshift(1)|Substitution - coding silent(1)|Complex - compound substitution(1)	p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1)	haematopoietic_and_lymphoid_tissue(284)|skin(201)|central_nervous_system(167)|lung(154)|urinary_tract(94)|upper_aerodigestive_tract(78)|bone(74)|oesophagus(65)|soft_tissue(58)|pleura(51)|ovary(38)|pancreas(37)|kidney(32)|breast(32)|stomach(14)|thyroid(13)|NS(12)|biliary_tract(12)|autonomic_ganglia(7)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(4)|thymus(4)|endometrium(3)|vulva(2)|prostate(2)|cervix(1)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM940227	CDKN2A	M	rs121913387	c.(172-174)Cga>Tga		cyclin-dependent kinase inhibitor 2A							7.0	9.0	8.0					9																	21971186		2034	4092	6126	SO:0001587	stop_gained	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971186G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.172C>T	9.37:g.21971186G>A	ENSP00000307101:p.Arg58*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*	p.R58*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	442	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	58		R -> Q (in dbSNP:rs36204273).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.172C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.1|28.1	4.893482|4.893482	0.91889|0.91889	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	T;T|.	0.75367|.	-0.93;-0.89|.	5.79|5.79	2.71|2.71	0.32032|0.32032	.|.	0.409080|.	0.18162|.	N|.	0.149742|.	T|.	0.29288|.	0.0729|.	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	P|.	0.44006|.	0.824|.	B|.	0.33121|.	0.158|.	T|.	0.21381|.	-1.0247|.	10|.	0.72032|0.13470	D|T	0.01|0.59	-3.0019|-3.0019	9.6681|9.6681	0.39996|0.39996	0.0:0.1288:0.474:0.3972|0.0:0.1288:0.474:0.3972	.|.	113|.	Q8N726|.	CD2A2_HUMAN|.	L|X	113;72|58	ENSP00000355153:P113L;ENSP00000432664:P72L|.	ENSP00000355153:P113L|ENSP00000307101:R58X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961186|21961186	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.277000|0.277000	0.26821|0.26821	0.096000|0.096000	0.15147|0.15147	0.738000|0.738000	0.32606|0.32606	0.555000|0.555000	0.69702|0.69702	CCG|CGA		0.677	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		20	11	0	0	0	1	0	20	11				
SPI1	6688	broad.mit.edu	37	11	47380496	47380496	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr11:47380496G>A	ENST00000378538.3	-	4	614	c.392C>T	c.(391-393)tCa>tTa	p.S131L	SPI1_ENST00000533030.1_Intron|SPI1_ENST00000533968.1_Missense_Mutation_p.S131L|SPI1_ENST00000227163.4_Missense_Mutation_p.S132L	NM_001080547.1|NM_003120.2	NP_001074016.1|NP_003111.2	P17947	SPI1_HUMAN	Spi-1 proto-oncogene	131					anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|histone H3 acetylation (GO:0043966)|hypermethylation of CpG island (GO:0044027)|lymphocyte differentiation (GO:0030098)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of erythrocyte differentiation (GO:0045646)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somatic stem cell maintenance (GO:0035019)	nuclear chromatin (GO:0000790)	core promoter binding (GO:0001047)|NFAT protein binding (GO:0051525)|RNA binding (GO:0003723)|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)|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 core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8				Lung(87;0.0967)		CTCCTCATCTGAGCTGGGCTG	0.692																																						ENST00000378538.3																			0				central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8						c.(391-393)tCa>tTa		spleen focus forming virus (SFFV) proviral integration oncogene							17.0	18.0	18.0					11																	47380496		2198	4296	6494	SO:0001583	missense	6688				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:47380496G>A	X52056	CCDS7933.2, CCDS44591.1	11p12-p11.22	2014-06-25	2014-06-25		ENSG00000066336	ENSG00000066336			11241	protein-coding gene	gene with protein product	"""hematopoietic transcription factor PU.1"", ""31 kDa transforming protein"""	165170	"""spleen focus forming virus (SFFV) proviral integration oncogene"""			1693183	Standard	NM_003120		Approved	PU.1, SPI-A, OF, SFPI1, SPI-1	uc001nfb.1	P17947	OTTHUMG00000150150	ENST00000378538.3:c.392C>T	11.37:g.47380496G>A	ENSP00000367799:p.Ser131Leu					SPI1_ENST00000533030.1_Intron|SPI1_ENST00000533968.1_Missense_Mutation_p.S131L|SPI1_ENST00000227163.4_Missense_Mutation_p.S132L	p.S131L	NM_001080547.1|NM_003120.2	NP_001074016.1|NP_003111.2	P17947	SPI1_HUMAN		Lung(87;0.0967)	4	614	-			131						Missense_Mutation	SNP	ENST00000378538.3	37	c.392C>T	CCDS7933.2	.	.	.	.	.	.	.	.	.	.	G	18.65	3.668681	0.67814	.	.	ENSG00000066336	ENST00000378538;ENST00000227163;ENST00000533968	T;T;T	0.27720	1.65;1.65;1.65	4.64	4.64	0.57946	.	0.244071	0.40818	N	0.001019	T	0.59101	0.2169	M	0.79926	2.475	0.80722	D	1	D;P;P	0.89917	1.0;0.598;0.661	D;B;B	0.87578	0.998;0.26;0.2	T	0.65302	-0.6201	10	0.56958	D	0.05	-4.3494	17.5148	0.87770	0.0:0.0:1.0:0.0	.	131;131;132	F5H3K6;P17947;P17947-2	.;SPI1_HUMAN;.	L	131;132;131	ENSP00000367799:S131L;ENSP00000227163:S132L;ENSP00000438846:S131L	ENSP00000227163:S132L	S	-	2	0	SPI1	47337072	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	7.312000	0.78968	2.117000	0.64856	0.561000	0.74099	TCA		0.692	SPI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316571.1	NM_003120		5	12	0	0	0	1	0	5	12				
DAZAP2	9802	broad.mit.edu	37	12	51634129	51634129	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr12:51634129C>T	ENST00000412716.3	+	2	632	c.16C>T	c.(16-18)Caa>Taa	p.Q6*	DAZAP2_ENST00000551534.1_3'UTR|DAZAP2_ENST00000425012.2_Nonsense_Mutation_p.Q6*|DAZAP2_ENST00000439799.2_Nonsense_Mutation_p.Q6*|DAZAP2_ENST00000549732.2_Nonsense_Mutation_p.Q6*|DAZAP2_ENST00000449723.3_Nonsense_Mutation_p.Q6*|DAZAP2_ENST00000551313.1_5'UTR|DAZAP2_ENST00000604900.1_Nonsense_Mutation_p.Q6*|DAZAP2_ENST00000549555.1_Nonsense_Mutation_p.Q6*			Q15038	DAZP2_HUMAN	DAZ associated protein 2	6						cytoplasm (GO:0005737)|nucleus (GO:0005634)	WW domain binding (GO:0050699)			haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)	6						TCTTTCAGGTCAATATCCAAC	0.493																																						ENST00000412716.3																			0				haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)	6						c.(16-18)Caa>Taa		DAZ associated protein 2							153.0	139.0	144.0					12																	51634129		2203	4300	6503	SO:0001587	stop_gained	9802						WW domain binding	g.chr12:51634129C>T	D31767	CCDS8809.1, CCDS44884.1, CCDS44885.1, CCDS44886.1, CCDS44887.1, CCDS44888.1	12q13.13	2012-04-04			ENSG00000183283	ENSG00000183283			2684	protein-coding gene	gene with protein product		607431				10857750, 7584044	Standard	NM_014764		Approved	KIAA0058	uc010snd.2	Q15038	OTTHUMG00000169649	ENST00000412716.3:c.16C>T	12.37:g.51634129C>T	ENSP00000394699:p.Gln6*					DAZAP2_ENST00000439799.2_Nonsense_Mutation_p.Q6*|DAZAP2_ENST00000549555.1_Nonsense_Mutation_p.Q6*|DAZAP2_ENST00000425012.2_Nonsense_Mutation_p.Q6*|DAZAP2_ENST00000604900.1_Nonsense_Mutation_p.Q6*|DAZAP2_ENST00000551313.1_5'UTR|DAZAP2_ENST00000449723.3_Nonsense_Mutation_p.Q6*|DAZAP2_ENST00000551534.1_3'UTR|DAZAP2_ENST00000549732.2_Nonsense_Mutation_p.Q6*	p.Q6*			Q15038	DAZP2_HUMAN			2	632	+			6					A8K254|B4DDT5|B4E1G3|C9JA96|C9JP84|E9PB45|F8VU62	Nonsense_Mutation	SNP	ENST00000412716.3	37	c.16C>T	CCDS8809.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917788	0.92249	.	.	ENSG00000183283	ENST00000412716;ENST00000549555;ENST00000439799;ENST00000425012;ENST00000549732;ENST00000449723	.	.	.	5.32	5.32	0.75619	.	0.134223	0.51477	D	0.000087	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-5.1136	18.3142	0.90213	0.0:1.0:0.0:0.0	.	.	.	.	X	6	.	ENSP00000394699:Q6X	Q	+	1	0	DAZAP2	49920396	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.125000	0.57931	2.941000	0.99782	0.655000	0.94253	CAA		0.493	DAZAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405259.2	NM_014764		9	79	0	0	0	1	0	9	79				
NFATC4	4776	broad.mit.edu	37	14	24845619	24845619	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr14:24845619C>A	ENST00000250373.4	+	9	2317	c.2176C>A	c.(2176-2178)Ccc>Acc	p.P726T	NFATC4_ENST00000555453.1_Missense_Mutation_p.P714T|NFATC4_ENST00000554661.1_Missense_Mutation_p.P656T|NFATC4_ENST00000557451.1_Missense_Mutation_p.P656T|NFATC4_ENST00000422617.3_Missense_Mutation_p.P714T|NFATC4_ENST00000555802.1_Missense_Mutation_p.P14T|NFATC4_ENST00000553708.1_Missense_Mutation_p.P726T|NFATC4_ENST00000557767.1_Missense_Mutation_p.P14T|NFATC4_ENST00000553469.1_Missense_Mutation_p.P758T|NFATC4_ENST00000555590.1_Missense_Mutation_p.P739T|NFATC4_ENST00000556279.1_Missense_Mutation_p.P758T|NFATC4_ENST00000555393.1_Missense_Mutation_p.P14T|NFATC4_ENST00000554050.1_Missense_Mutation_p.P726T|NFATC4_ENST00000556169.1_Missense_Mutation_p.P714T|NFATC4_ENST00000556759.1_Missense_Mutation_p.P261T|NFATC4_ENST00000413692.2_Missense_Mutation_p.P789T|NFATC4_ENST00000554591.1_Missense_Mutation_p.P789T|NFATC4_ENST00000555167.1_Missense_Mutation_p.P261T|NFATC4_ENST00000554344.1_Missense_Mutation_p.P656T|NFATC4_ENST00000424781.2_Missense_Mutation_p.P739T|NFATC4_ENST00000554473.1_Missense_Mutation_p.P261T|NFATC4_ENST00000553879.1_Missense_Mutation_p.P656T|NFATC4_ENST00000554966.1_Missense_Mutation_p.P739T|NFATC4_ENST00000539237.2_Missense_Mutation_p.P758T	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	726	Pro-rich.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|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 negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CCCCTCCTATCCCCATGAAGA	0.607																																						ENST00000413692.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34						c.(2365-2367)Ccc>Acc		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4							61.0	66.0	65.0					14																	24845619		2203	4300	6503	SO:0001583	missense	4776				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:24845619C>A	BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.2176C>A	14.37:g.24845619C>A	ENSP00000250373:p.Pro726Thr					NFATC4_ENST00000553879.1_Missense_Mutation_p.P656T|NFATC4_ENST00000250373.4_Missense_Mutation_p.P726T|NFATC4_ENST00000424781.2_Missense_Mutation_p.P739T|NFATC4_ENST00000422617.3_Missense_Mutation_p.P714T|NFATC4_ENST00000555167.1_Missense_Mutation_p.P261T|NFATC4_ENST00000555590.1_Missense_Mutation_p.P739T|NFATC4_ENST00000554591.1_Missense_Mutation_p.P789T|NFATC4_ENST00000553469.1_Missense_Mutation_p.P758T|NFATC4_ENST00000556169.1_Missense_Mutation_p.P714T|NFATC4_ENST00000554050.1_Missense_Mutation_p.P726T|NFATC4_ENST00000554344.1_Missense_Mutation_p.P656T|NFATC4_ENST00000554661.1_Missense_Mutation_p.P656T|NFATC4_ENST00000555802.1_Missense_Mutation_p.P14T|NFATC4_ENST00000539237.2_Missense_Mutation_p.P758T|NFATC4_ENST00000557767.1_Missense_Mutation_p.P14T|NFATC4_ENST00000553708.1_Missense_Mutation_p.P726T|NFATC4_ENST00000557451.1_Missense_Mutation_p.P656T|NFATC4_ENST00000555453.1_Missense_Mutation_p.P714T|NFATC4_ENST00000554966.1_Missense_Mutation_p.P739T|NFATC4_ENST00000556759.1_Missense_Mutation_p.P261T|NFATC4_ENST00000555393.1_Missense_Mutation_p.P14T|NFATC4_ENST00000556279.1_Missense_Mutation_p.P758T|NFATC4_ENST00000554473.1_Missense_Mutation_p.P261T	p.P789T	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	10	2509	+			726			Pro-rich.		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	ENST00000250373.4	37	c.2365C>A	CCDS9629.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.006979	0.54361	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000250373;ENST00000553708;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453;ENST00000554473;ENST00000556759;ENST00000555167;ENST00000557767;ENST00000555393;ENST00000555802	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.62498	3.2;3.15;3.23;3.18;3.2;3.2;3.22;3.17;3.18;3.23;3.23;2.92;2.92;2.85;2.85;2.9;2.87;2.91;1.45;1.47;1.47;0.2;0.02	5.13	3.31	0.37934	.	0.105398	0.43260	D	0.000584	T	0.41534	0.1163	N	0.19112	0.55	0.29269	N	0.870811	B;B;B;B;P;B;B;B;B;B;B;B;B	0.41848	0.004;0.013;0.013;0.013;0.763;0.004;0.013;0.082;0.082;0.013;0.013;0.034;0.002	B;B;B;B;B;B;B;B;B;B;B;B;B	0.36808	0.015;0.022;0.022;0.037;0.233;0.022;0.022;0.053;0.053;0.022;0.037;0.053;0.01	T	0.40117	-0.9580	10	0.52906	T	0.07	-2.2608	7.6224	0.28193	0.0:0.8096:0.0:0.1904	.	714;714;758;758;739;739;739;789;789;714;758;789;726	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-5;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	T	789;789;739;739;739;758;758;758;726;726;726;656;656;656;714;656;714;714;261;261;261;14;14;14	ENSP00000388910:P789T;ENSP00000452039:P789T;ENSP00000451224:P739T;ENSP00000450644:P739T;ENSP00000388668:P739T;ENSP00000439350:P758T;ENSP00000452270:P758T;ENSP00000451502:P758T;ENSP00000451151:P726T;ENSP00000250373:P726T;ENSP00000450590:P726T;ENSP00000452349:P656T;ENSP00000450469:P656T;ENSP00000450733:P656T;ENSP00000451454:P714T;ENSP00000451284:P656T;ENSP00000396788:P714T;ENSP00000450686:P714T;ENSP00000450810:P261T;ENSP00000451183:P261T;ENSP00000451395:P261T;ENSP00000451801:P14T;ENSP00000451590:P14T	ENSP00000250373:P726T	P	+	1	0	NFATC4	23915459	0.239000	0.23836	1.000000	0.80357	0.982000	0.71751	0.316000	0.19469	0.749000	0.32854	0.561000	0.74099	CCC		0.607	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554		15	116	1	0	0.0383953	1	0.0386294	15	116				
ZNF23	7571	broad.mit.edu	37	16	71483481	71483481	+	Silent	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr16:71483481G>A	ENST00000393539.2	-	6	1260	c.447C>T	c.(445-447)atC>atT	p.I149I	ZNF23_ENST00000357254.4_Silent_p.I149I|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000417828.1_Silent_p.I149I|ZNF23_ENST00000428724.2_Silent_p.I91I|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000564528.1_Silent_p.I91I|ZNF23_ENST00000497160.1_3'UTR	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	149					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		TATCAAAGCTGATGGATTTCC	0.413																																						ENST00000393539.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29						c.(445-447)atC>atT		zinc finger protein 23							94.0	100.0	98.0					16																	71483481		2198	4300	6498	SO:0001819	synonymous_variant	7571				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:71483481G>A	X52347	CCDS10900.1	16q22.2	2013-03-28	2012-07-12		ENSG00000167377	ENSG00000167377		"""Zinc fingers, C2H2-type"""	13023	protein-coding gene	gene with protein product		194527	"""zinc finger protein 359"""	ZNF359			Standard	NM_145911		Approved	KOX16, Zfp612, ZNF612	uc002faf.3	P17027	OTTHUMG00000176797	ENST00000393539.2:c.447C>T	16.37:g.71483481G>A						RP11-510M2.10_ENST00000576258.1_RNA|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000417828.1_Silent_p.I149I|ZNF23_ENST00000357254.4_Silent_p.I149I|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000428724.2_Silent_p.I91I|ZNF23_ENST00000564528.1_Silent_p.I91I	p.I149I	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0686)	6	1260	-		Ovarian(137;0.00768)	149					Q8NDP5|Q96IT3|Q9UG42	Silent	SNP	ENST00000393539.2	37	c.447C>T	CCDS10900.1																																																																																				0.413	ZNF23-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268985.23	NM_145911		15	73	0	0	0	1	0	15	73				
SLC8A1	6546	broad.mit.edu	37	2	40397466	40397466	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr2:40397466G>A	ENST00000403092.1	-	7	2026	c.1993C>T	c.(1993-1995)Cat>Tat	p.H665Y	SLC8A1_ENST00000332839.4_Missense_Mutation_p.H665Y|SLC8A1_ENST00000406391.2_Intron|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.H660Y|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000402441.1_Intron|SLC8A1_ENST00000542024.1_Intron|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000408028.2_Missense_Mutation_p.H657Y|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000405269.1_Intron|SLC8A1_ENST00000405901.3_Missense_Mutation_p.H660Y|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000406785.2_Intron|SLC8A1-AS1_ENST00000599268.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	665					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TCTCTAGCATGAACCTTCCTG	0.418																																						ENST00000542756.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(1978-1980)Cat>Tat		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						135.0	119.0	125.0					2																	40397466		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40397466G>A		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.1993C>T	2.37:g.40397466G>A	ENSP00000384763:p.His665Tyr					SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000408028.2_Missense_Mutation_p.H657Y|SLC8A1_ENST00000406785.1_Intron|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000406391.2_Intron|SLC8A1_ENST00000405901.3_Missense_Mutation_p.H660Y|SLC8A1_ENST00000405269.1_Intron|SLC8A1_ENST00000403092.1_Missense_Mutation_p.H665Y|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000402441.1_Intron|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000332839.4_Missense_Mutation_p.H665Y|SLC8A1_ENST00000542024.1_Intron|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA	p.H660Y			P32418	NAC1_HUMAN			6	2001	-			665					A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.1978C>T	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.988331	0.53934	.	.	ENSG00000183023	ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000332839;ENST00000408028;ENST00000535962	T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72	5.07	5.07	0.68467	.	0.392987	0.26746	N	0.022702	T	0.22085	0.0532	L	0.27053	0.805	0.80722	D	1	B;B;B;B	0.15930	0.0;0.015;0.0;0.0	B;B;B;B	0.22601	0.001;0.04;0.0;0.0	T	0.03566	-1.1024	10	0.59425	D	0.04	.	15.9876	0.80174	0.0:0.0:1.0:0.0	.	657;652;660;665	P32418-4;P32418-3;F6VPY9;P32418	.;.;.;NAC1_HUMAN	Y	665;660;665;660;665;657;652	ENSP00000440727:H660Y;ENSP00000384763:H665Y;ENSP00000385678:H660Y;ENSP00000332931:H665Y;ENSP00000384908:H657Y	ENSP00000332931:H665Y	H	-	1	0	SLC8A1	40250970	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.180000	0.89694	2.627000	0.88993	0.591000	0.81541	CAT		0.418	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		11	28	0	0	0	1	0	11	28				
PKD1	5310	broad.mit.edu	37	16	2143662	2143662	+	Silent	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr16:2143662G>A	ENST00000262304.4	-	37	11107	c.10899C>T	c.(10897-10899)agC>agT	p.S3633S	RP11-304L19.3_ENST00000565937.1_RNA|RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Silent_p.S3632S	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3633					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						TCACAGCCGGGCTCTCTACCA	0.642																																						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.(10897-10899)agC>agT		polycystic kidney disease 1 (autosomal dominant)							35.0	35.0	35.0					16																	2143662		2193	4298	6491	SO:0001819	synonymous_variant	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.chr16:2143662G>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.10899C>T	16.37:g.2143662G>A						RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Silent_p.S3632S	p.S3633S	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			37	11107	-			3633					Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	c.10899C>T	CCDS32369.1																																																																																				0.642	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			3	8	0	0	0	1	0	3	8				
TEX2	55852	broad.mit.edu	37	17	62291075	62291075	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr17:62291075G>C	ENST00000583097.1	-	2	675	c.503C>G	c.(502-504)tCt>tGt	p.S168C	TEX2_ENST00000584379.1_Missense_Mutation_p.S168C|TEX2_ENST00000258991.3_Missense_Mutation_p.S168C			Q8IWB9	TEX2_HUMAN	testis expressed 2	168					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		GGGAGACTTAGAAGGAGAGGA	0.557																																						ENST00000258991.3																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(502-504)tCt>tGt		testis expressed 2							58.0	52.0	54.0					17																	62291075		2203	4300	6503	SO:0001583	missense	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62291075G>C	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.503C>G	17.37:g.62291075G>C	ENSP00000462665:p.Ser168Cys					TEX2_ENST00000583097.1_Missense_Mutation_p.S168C|TEX2_ENST00000584379.1_Missense_Mutation_p.S168C	p.S168C			Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	2	587	-			168					Q6AHZ5|Q8N3L0|Q9C0C5	Missense_Mutation	SNP	ENST00000583097.1	37	c.503C>G		.	.	.	.	.	.	.	.	.	.	G	2.510	-0.313196	0.05422	.	.	ENSG00000136478	ENST00000258991	T	0.55930	0.49	5.82	4.86	0.63082	.	0.269978	0.37219	N	0.002184	T	0.59783	0.2219	N	0.24115	0.695	0.44181	D	0.996994	D;D	0.89917	1.0;0.999	D;D	0.69479	0.964;0.921	T	0.65821	-0.6075	10	0.72032	D	0.01	-14.6736	16.5273	0.84334	0.0:0.0:0.8681:0.1319	.	168;168	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	C	168	ENSP00000258991:S168C	ENSP00000258991:S168C	S	-	2	0	TEX2	59644807	1.000000	0.71417	1.000000	0.80357	0.082000	0.17680	6.076000	0.71267	1.481000	0.48307	-0.127000	0.14921	TCT		0.557	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		8	48	0	0	0	1	0	8	48				
SGMS1	259230	broad.mit.edu	37	10	52067886	52067886	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr10:52067886C>T	ENST00000361781.2	-	10	1877	c.918G>A	c.(916-918)tgG>tgA	p.W306*	SGMS1_ENST00000429490.1_Nonsense_Mutation_p.W137*	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	312					apoptotic process (GO:0006915)|cell growth (GO:0016049)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|Golgi trans cisterna (GO:0000138)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ceramide cholinephosphotransferase activity (GO:0047493)|kinase activity (GO:0016301)|sphingomyelin synthase activity (GO:0033188)			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						TCCAGTGATACCACCAGAGTC	0.468																																						ENST00000361781.2																			0				endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						c.(916-918)tgG>tgA		sphingomyelin synthase 1							92.0	90.0	91.0					10																	52067886		2203	4300	6503	SO:0001587	stop_gained	259230				apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity	g.chr10:52067886C>T	AY280959	CCDS7240.1	10q11.2	2013-01-10	2007-03-16	2007-03-16	ENSG00000198964	ENSG00000198964	2.7.8.27	"""Sterile alpha motif (SAM) domain containing"""	29799	protein-coding gene	gene with protein product		611573	"""transmembrane protein 23"""	TMEM23		11841947, 14976195	Standard	NM_147156		Approved	MOB, MGC17342, SMS1	uc001jje.3	Q86VZ5	OTTHUMG00000018231	ENST00000361781.2:c.918G>A	10.37:g.52067886C>T	ENSP00000354829:p.Trp306*					SGMS1_ENST00000429490.1_Nonsense_Mutation_p.W137*	p.W306*	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN			10	1877	-			312					Q68U43|Q6EKK0|Q75SP1	Nonsense_Mutation	SNP	ENST00000361781.2	37	c.918G>A	CCDS7240.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.039292	0.75617	.	.	ENSG00000198964	ENST00000412547;ENST00000361781;ENST00000429490	.	.	.	5.35	5.35	0.76521	.	0.060930	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-10.6263	16.9282	0.86182	0.0:1.0:0.0:0.0	.	.	.	.	X	106;306;137	.	ENSP00000354829:W306X	W	-	3	0	SGMS1	51737892	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.424000	0.80242	2.662000	0.90505	0.563000	0.77884	TGG		0.468	SGMS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048074.2	NM_147156		16	70	0	0	0	1	0	16	70				
ROS1	6098	broad.mit.edu	37	6	117704527	117704527	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr6:117704527C>T	ENST00000368508.3	-	16	2647	c.2449G>A	c.(2449-2451)Gaa>Aaa	p.E817K	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.E812K	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	817					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AGGGAACTTTCCCCATTTAGT	0.403			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""		"""glioblastoma, NSCLC"""	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(2449-2451)Gaa>Aaa		c-ros oncogene 1 , receptor tyrosine kinase							204.0	193.0	197.0					6																	117704527		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117704527C>T	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.2449G>A	6.37:g.117704527C>T	ENSP00000357494:p.Glu817Lys					GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.E812K	p.E817K	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	16	2647	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	817					Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.2449G>A	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342864	0.82022	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.90676	-2.71;-2.71	4.97	4.09	0.47781	.	0.000000	0.64402	D	0.000011	T	0.79046	0.4380	N	0.14661	0.345	0.80722	D	1	P	0.48834	0.916	P	0.45577	0.486	T	0.83007	-0.0174	10	0.62326	D	0.03	.	13.0554	0.58977	0.0:0.8386:0.1614:0.0	.	817	P08922	ROS1_HUMAN	K	817;812	ENSP00000357494:E817K;ENSP00000357493:E812K	ENSP00000357493:E812K	E	-	1	0	ROS1	117811220	0.995000	0.38212	0.958000	0.39756	0.996000	0.88848	2.852000	0.48310	1.209000	0.43321	0.655000	0.94253	GAA		0.403	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			25	108	0	0	0	1	0	25	108				
CASP8	841	broad.mit.edu	37	2	202150039	202150039	+	Splice_Site	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr2:202150039C>T	ENST00000432109.2	+	9	1492	c.1303C>T	c.(1303-1305)Cga>Tga	p.R435*	CASP8_ENST00000323492.7_Splice_Site_p.R420*|CASP8_ENST00000264274.9_Splice_Site_p.R351*|CASP8_ENST00000358485.4_Splice_Site_p.R494*|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264275.5_Splice_Site_p.R452*	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	435					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)	p.R452*(2)|p.R494*(1)		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						GCGATGTCCTCGGTAAGTTTT	0.502										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000358485.4																			3	Substitution - Nonsense(3)	p.R452*(2)|p.R494*(1)	endometrium(3)	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.e8+1		caspase 8, apoptosis-related cysteine peptidase							86.0	77.0	80.0					2																	202150039		2203	4300	6503	SO:0001630	splice_region_variant	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.chr2:202150039C>T	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.1304+1C>T	2.37:g.202150039C>T		HNSCC(4;0.00038)				CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264274.9_Splice_Site_p.R351_splice|CASP8_ENST00000264275.5_Splice_Site_p.R452_splice|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000323492.7_Splice_Site_p.R420_splice|CASP8_ENST00000432109.2_Splice_Site_p.R435_splice	p.R494_splice	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN			8	1676	+			435					O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Splice_Site	SNP	ENST00000432109.2	37	c.1481_splice	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	C	34	5.402692	0.96030	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	.	.	.	5.37	3.47	0.39725	.	0.583046	0.18288	N	0.145809	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.6272	0.28218	0.5048:0.4125:0.0:0.0826	.	.	.	.	X	420;351;435;452;494;420;214	.	ENSP00000264274:R351X	R	+	1	2	CASP8	201858284	0.102000	0.21896	0.991000	0.47740	0.792000	0.44763	0.396000	0.20867	0.538000	0.28769	0.561000	0.74099	CGA		0.502	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228	Nonsense_Mutation	27	34	0	0	0	1	0	27	34				
SBF2	81846	broad.mit.edu	37	11	9810760	9810760	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr11:9810760C>T	ENST00000256190.8	-	35	4965	c.4828G>A	c.(4828-4830)Gac>Aac	p.D1610N	SBF2-AS1_ENST00000534671.1_RNA|SBF2-AS1_ENST00000526617.1_RNA|SBF2-AS1_ENST00000525636.1_RNA|SBF2-AS1_ENST00000498905.2_RNA|SBF2-AS1_ENST00000499953.2_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1610					cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CCAGCCAGGTCAGAGTCTTCG	0.542																																						ENST00000256190.8																			0				breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(4828-4830)Gac>Aac		SET binding factor 2							100.0	95.0	96.0					11																	9810760		2201	4294	6495	SO:0001583	missense	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:9810760C>T	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.4828G>A	11.37:g.9810760C>T	ENSP00000256190:p.Asp1610Asn					SBF2-AS1_ENST00000526617.1_RNA|SBF2-AS1_ENST00000498905.2_RNA|SBF2-AS1_ENST00000525636.1_RNA|SBF2-AS1_ENST00000499953.2_RNA|SBF2-AS1_ENST00000534671.1_RNA	p.D1610N	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	35	4965	-			1610					Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	c.4828G>A	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.509149	0.64410	.	.	ENSG00000133812	ENST00000256190	D	0.85773	-2.03	5.89	4.99	0.66335	.	1.165870	0.06100	N	0.665226	D	0.84620	0.5512	L	0.50919	1.6	0.80722	D	1	B	0.23650	0.089	B	0.28385	0.089	T	0.64748	-0.6334	10	0.27082	T	0.32	.	14.8338	0.70166	0.0:0.9315:0.0:0.0685	.	1610	Q86WG5	MTMRD_HUMAN	N	1610	ENSP00000256190:D1610N	ENSP00000256190:D1610N	D	-	1	0	SBF2	9767336	0.999000	0.42202	0.277000	0.24703	0.994000	0.84299	4.058000	0.57463	1.504000	0.48704	0.655000	0.94253	GAC		0.542	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		37	65	0	0	0	1	0	37	65				
MAP2K2	5605	broad.mit.edu	37	19	4110621	4110621	+	Silent	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr19:4110621C>T	ENST00000262948.5	-	3	589	c.336G>A	c.(334-336)cgG>cgA	p.R112R	MAP2K2_ENST00000599345.1_5'UTR|MAP2K2_ENST00000394867.4_Silent_p.R15R	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	112	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of cell motility (GO:2000147)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|scaffold protein binding (GO:0097110)						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	Bosutinib(DB06616)|Trametinib(DB08911)	TGATCTGGTTCCGGATGGCCG	0.602																																						ENST00000262948.5																			0											c.(334-336)cgG>cgA		mitogen-activated protein kinase kinase 2							71.0	59.0	63.0					19																	4110621		2203	4300	6503	SO:0001819	synonymous_variant	5605				activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr19:4110621C>T	L11285	CCDS12120.1	19p13.3	2014-09-17			ENSG00000126934	ENSG00000126934	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6842	protein-coding gene	gene with protein product		601263		PRKMK2		8388392	Standard	NM_030662		Approved	MEK2	uc002lzk.3	P36507	OTTHUMG00000134286	ENST00000262948.5:c.336G>A	19.37:g.4110621C>T						MAP2K2_ENST00000599345.1_5'UTR|MAP2K2_ENST00000394867.4_Silent_p.R15R	p.R112R	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	3	589	-		Hepatocellular(1079;0.137)	112			Protein kinase.			Silent	SNP	ENST00000262948.5	37	c.336G>A	CCDS12120.1																																																																																				0.602	MAP2K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258957.2			12	58	0	0	0	1	0	12	58				
PLCG1	5335	broad.mit.edu	37	20	39801217	39801217	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr20:39801217C>G	ENST00000373271.1	+	26	3467	c.3062C>G	c.(3061-3063)tCc>tGc	p.S1021C	PLCG1_ENST00000244007.3_Missense_Mutation_p.S1021C|PLCG1_ENST00000373272.2_Missense_Mutation_p.S1021C|PLCG1_ENST00000608689.1_3'UTR	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	1021	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|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)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CTGGATTCCTCCAACTACGAT	0.557																																						ENST00000373272.2																			0				breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46						c.(3061-3063)tCc>tGc		phospholipase C, gamma 1							58.0	54.0	55.0					20																	39801217		2203	4300	6503	SO:0001583	missense	5335				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	g.chr20:39801217C>G	M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.3062C>G	20.37:g.39801217C>G	ENSP00000362368:p.Ser1021Cys					PLCG1_ENST00000244007.3_Missense_Mutation_p.S1021C|PLCG1_ENST00000461641.1_3'UTR|PLCG1_ENST00000373271.1_Missense_Mutation_p.S1021C	p.S1021C	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN			26	3467	+		Myeloproliferative disorder(115;0.00878)	1021			PI-PLC Y-box.		B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	ENST00000373271.1	37	c.3062C>G	CCDS13314.1	.	.	.	.	.	.	.	.	.	.	C	32	5.136891	0.94517	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.61510	0.1;0.1;0.1	5.82	5.82	0.92795	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.054330	0.85682	D	0.000000	D	0.86226	0.5882	H	0.98005	4.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.90693	0.4614	10	0.87932	D	0	.	20.1054	0.97890	0.0:1.0:0.0:0.0	.	1021;1021;1021	P19174-2;P19174;A2A284	.;PLCG1_HUMAN;.	C	1021	ENSP00000244007:S1021C;ENSP00000362368:S1021C;ENSP00000362369:S1021C	ENSP00000244007:S1021C	S	+	2	0	PLCG1	39234631	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.757000	0.94681	0.655000	0.94253	TCC		0.557	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811		9	39	0	0	0	1	0	9	39				
CA8	767	broad.mit.edu	37	8	61192399	61192399	+	Silent	SNP	T	T	C			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr8:61192399T>C	ENST00000317995.4	-	2	405	c.141A>G	c.(139-141)gaA>gaG	p.E47E		NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	47					one-carbon metabolic process (GO:0006730)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasm (GO:0005737)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)			Zonisamide(DB00909)	GAGACTGGTATTCCCCATTAG	0.403																																						ENST00000317995.4																			0				endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16						c.(139-141)gaA>gaG		carbonic anhydrase VIII							72.0	65.0	68.0					8																	61192399		2203	4300	6503	SO:0001819	synonymous_variant	767				one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	g.chr8:61192399T>C	L04656	CCDS6174.1	8q12.1	2012-08-21			ENSG00000178538	ENSG00000178538		"""Carbonic anhydrases"""	1382	protein-coding gene	gene with protein product		114815		CALS		17219437	Standard	NM_004056		Approved	CARP	uc003xtz.1	P35219	OTTHUMG00000165325	ENST00000317995.4:c.141A>G	8.37:g.61192399T>C							p.E47E	NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN			2	405	-		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)	47					A8K0A5|B3KQZ7|Q32MY2	Silent	SNP	ENST00000317995.4	37	c.141A>G	CCDS6174.1																																																																																				0.403	CA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383445.1			6	26	0	0	0	1	0	6	26				
BTN2A2	10385	broad.mit.edu	37	6	26388400	26388400	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr6:26388400C>T	ENST00000356709.4	+	4	713	c.602C>T	c.(601-603)gCt>gTt	p.A201V	BTN2A2_ENST00000469230.1_Missense_Mutation_p.A201V|BTN2A2_ENST00000482536.1_Intron|BTN2A2_ENST00000352867.2_Missense_Mutation_p.A85V|BTN2A2_ENST00000416795.2_Missense_Mutation_p.A201V|BTN2A2_ENST00000432533.2_Intron	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	201	Ig-like C2-type.				negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						ATCGCTGATGCTGACGGCCTC	0.572																																						ENST00000356709.4																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						c.(601-603)gCt>gTt		butyrophilin, subfamily 2, member A2							151.0	123.0	133.0					6																	26388400		2203	4300	6503	SO:0001583	missense	10385				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane		g.chr6:26388400C>T	U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1137	protein-coding gene	gene with protein product		613591				10354554, 9149941	Standard	NM_006995		Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	ENST00000356709.4:c.602C>T	6.37:g.26388400C>T	ENSP00000349143:p.Ala201Val					BTN2A2_ENST00000416795.2_Missense_Mutation_p.A201V|BTN2A2_ENST00000432533.2_Intron|BTN2A2_ENST00000482536.1_Intron|BTN2A2_ENST00000469230.1_Missense_Mutation_p.A201V|BTN2A2_ENST00000352867.2_Missense_Mutation_p.A85V	p.A201V	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN			4	713	+			201			Ig-like C2-type.		A6NM84|B4DE97|B4DQ01|E9PH07|O00480	Missense_Mutation	SNP	ENST00000356709.4	37	c.602C>T	CCDS4606.1	.	.	.	.	.	.	.	.	.	.	c	15.66	2.900061	0.52227	.	.	ENSG00000124508	ENST00000469230;ENST00000356709;ENST00000352867;ENST00000493275;ENST00000472507;ENST00000416795;ENST00000483410	T;T;T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51;2.51;2.51	4.11	-4.03	0.04021	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like fold (1);	0.935728	0.08899	N	0.877485	T	0.12092	0.0294	M	0.69358	2.11	0.09310	N	1	D;P;P;B	0.55800	0.973;0.716;0.849;0.407	P;B;B;B	0.58820	0.846;0.407;0.438;0.216	T	0.13098	-1.0522	10	0.46703	T	0.11	.	7.4031	0.26975	0.4641:0.3148:0.2211:0.0	.	85;201;85;201	B4E3J1;Q8WVV5-2;A6NM84;Q8WVV5	.;.;.;BT2A2_HUMAN	V	201;201;85;201;85;201;85	ENSP00000417472:A201V;ENSP00000349143:A201V;ENSP00000337117:A85V;ENSP00000418857:A201V;ENSP00000419226:A85V;ENSP00000399308:A201V;ENSP00000418176:A85V	ENSP00000337117:A85V	A	+	2	0	BTN2A2	26496379	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-0.881000	0.04179	-0.495000	0.06659	0.454000	0.30748	GCT		0.572	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040117.1			26	99	0	0	0	1	0	26	99				
SIRPB1	10326	broad.mit.edu	37	20	1558987	1558987	+	Missense_Mutation	SNP	G	G	A	rs368470461		TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr20:1558987G>A	ENST00000381605.4	-	2	494	c.430C>T	c.(430-432)Cgc>Tgc	p.R144C	SIRPB1_ENST00000381603.3_Missense_Mutation_p.R144C|RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.R144C|SIRPB1_ENST00000262929.5_Missense_Mutation_p.R143C	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	144					cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TACTCACCGCGCACAGACAGC	0.552																																						ENST00000381605.4																			0				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(430-432)Cgc>Tgc		signal-regulatory protein beta 1		G	CYS/ARG,CYS/ARG	0,4392		0,0,2196	122.0	108.0	113.0		430,430	-0.3	0.0	20		113	1,8469		0,1,4234	no	missense,missense	SIRPB1	NM_001083910.2,NM_006065.3	180,180	0,1,6430	AA,AG,GG		0.0118,0.0,0.0078	possibly-damaging,possibly-damaging	144/182,144/399	1558987	1,12861	2196	4235	6431	SO:0001583	missense	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1558987G>A	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.430C>T	20.37:g.1558987G>A	ENSP00000371018:p.Arg144Cys					RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.R144C|SIRPB1_ENST00000262929.5_Missense_Mutation_p.R143C|SIRPB1_ENST00000381603.3_Missense_Mutation_p.R144C	p.R144C	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN			2	494	-			144					A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	c.430C>T	CCDS13019.1	.	.	.	.	.	.	.	.	.	.	.	11.45	1.642351	0.29246	0.0	1.18E-4	ENSG00000101307	ENST00000381605;ENST00000381603;ENST00000262929	T;T;T	0.02323	4.34;4.34;4.34	2.36	-0.31	0.12765	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.021760	0.07769	N	0.951360	T	0.06872	0.0175	L	0.49350	1.555	0.09310	N	1	D;D	0.71674	0.998;0.991	P;P	0.56960	0.624;0.81	T	0.40117	-0.9580	10	0.35671	T	0.21	.	6.6051	0.22721	0.0:0.0:0.5263:0.4737	.	144;144	O00241;O00241-2	SIRB1_HUMAN;.	C	144;144;143	ENSP00000371018:R144C;ENSP00000371016:R144C;ENSP00000262929:R143C	ENSP00000262929:R143C	R	-	1	0	SIRPB1	1506987	0.079000	0.21365	0.031000	0.17742	0.058000	0.15608	-0.025000	0.12413	-0.218000	0.10018	-0.521000	0.04368	CGC		0.552	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		21	185	0	0	0	1	0	21	185				
AKAP9	10142	broad.mit.edu	37	7	91690634	91690634	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr7:91690634G>C	ENST00000359028.2	+	24	5923	c.5698G>C	c.(5698-5700)Gaa>Caa	p.E1900Q	AKAP9_ENST00000358100.2_Missense_Mutation_p.E1900Q|AKAP9_ENST00000491695.1_3'UTR|AKAP9_ENST00000356239.3_Missense_Mutation_p.E1888Q			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1900	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACAGAAACAAGAAGCAACAGA	0.448			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(5698-5700)Gaa>Caa		A kinase (PRKA) anchor protein 9							96.0	92.0	93.0					7																	91690634		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91690634G>C	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.5698G>C	7.37:g.91690634G>C	ENSP00000351922:p.Glu1900Gln					AKAP9_ENST00000358100.2_Missense_Mutation_p.E1900Q|AKAP9_ENST00000356239.3_Missense_Mutation_p.E1888Q|AKAP9_ENST00000491695.1_3'UTR	p.E1900Q			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		24	5923	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		1900			Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.5698G>C		.	.	.	.	.	.	.	.	.	.	G	18.85	3.712165	0.68730	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000265737	T;T;T	0.05447	3.46;3.46;3.44	5.69	4.8	0.61643	.	0.000000	0.40728	N	0.001039	T	0.16471	0.0396	M	0.81497	2.545	0.58432	D	0.999992	P;P;P	0.46142	0.8;0.873;0.873	B;P;P	0.45310	0.284;0.476;0.476	T	0.02683	-1.1124	10	0.87932	D	0	.	16.969	0.86294	0.0:0.1277:0.8723:0.0	.	1900;1888;1888	Q99996;Q99996-2;Q99996-3	AKAP9_HUMAN;.;.	Q	1888;1900;1900;1900;103	ENSP00000348573:E1888Q;ENSP00000351922:E1900Q;ENSP00000350813:E1900Q	ENSP00000265737:E103Q	E	+	1	0	AKAP9	91528570	1.000000	0.71417	0.972000	0.41901	0.986000	0.74619	5.922000	0.70036	1.517000	0.48917	0.655000	0.94253	GAA		0.448	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		10	33	0	0	0	1	0	10	33				
ABL2	27	broad.mit.edu	37	1	179112101	179112101	+	Intron	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr1:179112101C>T	ENST00000502732.1	-	2	361				ABL2_ENST00000512653.1_Missense_Mutation_p.E27K|ABL2_ENST00000344730.3_Missense_Mutation_p.E27K|ABL2_ENST00000408940.3_Missense_Mutation_p.E27K|ABL2_ENST00000392043.3_Intron|ABL2_ENST00000507173.1_Intron|ABL2_ENST00000504405.1_Missense_Mutation_p.E27K|ABL2_ENST00000511413.1_Intron|ABL2_ENST00000367623.4_Intron	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase						actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)	p.E27K(1)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TCTGAGGCCTCAGTGCACAGG	0.458			T	ETV6	AML																																	ENST00000408940.3				Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		1	Substitution - Missense(1)	p.E27K(1)	lung(1)	breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65						c.(79-81)Gag>Aag		c-abl oncogene 2, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)						112.0	109.0	110.0					1																	179112101		1956	4143	6099	SO:0001627	intron_variant	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179112101C>T	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.158-9592G>A	1.37:g.179112101C>T						ABL2_ENST00000367623.4_Intron|ABL2_ENST00000504405.1_Missense_Mutation_p.E27K|ABL2_ENST00000512653.1_Missense_Mutation_p.E27K|ABL2_ENST00000502732.1_Intron|ABL2_ENST00000507173.1_Intron|ABL2_ENST00000344730.3_Missense_Mutation_p.E27K|ABL2_ENST00000392043.3_Intron|ABL2_ENST00000511413.1_Intron	p.E27K	NM_001168239.1	NP_001161711.1	P42684	ABL2_HUMAN			1	78	-			0			CAP.		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Missense_Mutation	SNP	ENST00000502732.1	37	c.79G>A	CCDS30947.1	.	.	.	.	.	.	.	.	.	.	C	9.149	1.015776	0.19355	.	.	ENSG00000143322	ENST00000408940;ENST00000344730;ENST00000512653;ENST00000504405	T;T;T;T	0.75821	-0.93;-0.89;-0.9;-0.97	5.34	4.43	0.53597	.	.	.	.	.	T	0.52773	0.1755	.	.	.	0.09310	N	1	B;B;B;B;B;B	0.29301	0.018;0.241;0.241;0.062;0.037;0.018	B;B;B;B;B;B	0.20767	0.015;0.031;0.031;0.015;0.007;0.015	T	0.30446	-0.9978	8	0.09590	T	0.72	.	10.8534	0.46784	0.0:0.9124:0.0:0.0876	.	27;27;27;27;27;27	P42684-4;P42684-9;P42684-2;P42684-3;D1MPS6;P42684-10	.;.;.;.;.;.	K	27	ENSP00000386152:E27K;ENSP00000339209:E27K;ENSP00000423578:E27K;ENSP00000426831:E27K	ENSP00000339209:E27K	E	-	1	0	ABL2	177378724	0.190000	0.23276	0.002000	0.10522	0.011000	0.07611	2.315000	0.43752	1.252000	0.44001	0.655000	0.94253	GAG		0.458	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		32	17	0	0	0	1	0	32	17				
RABGAP1	23637	broad.mit.edu	37	9	125827663	125827663	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr9:125827663A>G	ENST00000373647.4	+	14	1965	c.1831A>G	c.(1831-1833)Aac>Gac	p.N611D	RABGAP1_ENST00000493854.1_3'UTR|RABGAP1_ENST00000373643.5_5'UTR	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	611	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						CCGGGATATTAACCGAACATT	0.388																																						ENST00000373647.4																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(1831-1833)Aac>Gac		RAB GTPase activating protein 1							130.0	132.0	131.0					9																	125827663		2203	4300	6503	SO:0001583	missense	23637				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding	g.chr9:125827663A>G	AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"""rab6 GTPase activating protein (GAP and centrosome-associated)"", ""TBC1 domain family, member 11"""	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.1831A>G	9.37:g.125827663A>G	ENSP00000362751:p.Asn611Asp					RABGAP1_ENST00000493854.1_3'UTR|RABGAP1_ENST00000373643.5_5'UTR	p.N611D	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN			14	1965	+			611			Rab-GAP TBC.		B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Missense_Mutation	SNP	ENST00000373647.4	37	c.1831A>G	CCDS6848.2	.	.	.	.	.	.	.	.	.	.	A	14.88	2.668126	0.47677	.	.	ENSG00000011454	ENST00000373647	T	0.11169	2.8	5.35	5.35	0.76521	Rab-GAP/TBC domain (4);	0.056733	0.64402	D	0.000002	T	0.10637	0.0260	L	0.41492	1.28	0.80722	D	1	B	0.22683	0.073	B	0.24006	0.05	T	0.13335	-1.0513	10	0.13108	T	0.6	-17.7562	15.3132	0.74053	1.0:0.0:0.0:0.0	.	611	Q9Y3P9	RBGP1_HUMAN	D	611	ENSP00000362751:N611D	ENSP00000362751:N611D	N	+	1	0	RABGAP1	124867484	1.000000	0.71417	1.000000	0.80357	0.495000	0.33615	7.000000	0.76290	2.015000	0.59207	0.448000	0.29417	AAC		0.388	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	NM_012197		4	157	0	0	0	1	0	4	157				
ARRDC1-AS1	85026	broad.mit.edu	37	9	140510167	140510167	+	Nonsense_Mutation	SNP	G	G	C			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr9:140510167G>C	ENST00000371417.3	-	3	1025	c.485C>G	c.(484-486)tCa>tGa	p.S162*	C9orf37_ENST00000496793.1_5'Flank	NM_032937.4	NP_116326.2	Q9H2J1	CI037_HUMAN		162										breast(1)|large_intestine(2)	3	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		CTCCCCTGCTGAGAAACCCGC	0.642																																						ENST00000371417.3																			0				breast(1)|large_intestine(2)	3						c.(484-486)tCa>tGa		chromosome 9 open reading frame 37							43.0	36.0	39.0					9																	140510167		2202	4300	6502	SO:0001587	stop_gained	85026							g.chr9:140510167G>C																												ENST00000371417.3:c.485C>G	9.37:g.140510167G>C	ENSP00000360471:p.Ser162*						p.S162*	NM_032937.4	NP_116326.2	Q9H2J1	CI037_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)	3	1025	-	all_cancers(76;0.106)		162					Q17RM5|Q5T368	Nonsense_Mutation	SNP	ENST00000371417.3	37	c.485C>G	CCDS35189.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.518130	0.85495	.	.	ENSG00000203993	ENST00000371417	.	.	.	2.47	-2.77	0.05877	.	.	.	.	.	.	.	.	.	.	.	0.22378	N	0.999159	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	3.6987	0.08374	0.3027:0.4166:0.2806:0.0	.	.	.	.	X	162	.	ENSP00000360471:S162X	S	-	2	0	C9orf37	139629988	0.000000	0.05858	0.001000	0.08648	0.095000	0.18619	-0.539000	0.06113	-0.361000	0.08125	0.306000	0.20318	TCA		0.642	C9orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055328.1			8	43	0	0	0	1	0	8	43				
TRBV5-4	28611	broad.mit.edu	37	7	142168890	142168890	+	RNA	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr7:142168890C>T	ENST00000454561.2	-	0	155									T cell receptor beta variable 5-4																		GGGCTTGGTCCTCCTGGGGAA	0.592																																						ENST00000454561.2																			0																				25.0	26.0	26.0					7																	142168890		1957	4131	6088			28611							g.chr7:142168890C>T	L36092		7q34	2012-02-07			ENSG00000230099	ENSG00000230099		"""T cell receptors / TRB locus"""	12221	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV54, TCRBV5S4, TCRBV5S6A3N2T			OTTHUMG00000158524		7.37:g.142168890C>T														0	155	-									RNA	SNP	ENST00000454561.2	37																																																																																						0.592	TRBV5-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351230.2	NG_001333		5	17	0	0	0	1	0	5	17				
EXOC6	54536	broad.mit.edu	37	10	94757357	94757357	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr10:94757357G>A	ENST00000260762.6	+	19	2094	c.2080G>A	c.(2080-2082)Gtc>Atc	p.V694I	EXOC6_ENST00000443748.2_Missense_Mutation_p.V591I|EXOC6_ENST00000371547.4_Missense_Mutation_p.V710I|EXOC6_ENST00000371552.4_Missense_Mutation_p.V689I	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	694					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				TAACTTAGATGTCATACAGTG	0.348																																						ENST00000371552.4																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26						c.(2065-2067)Gtc>Atc		exocyst complex component 6							130.0	125.0	127.0					10																	94757357		2203	4300	6503	SO:0001583	missense	54536				protein transport|vesicle docking involved in exocytosis	exocyst		g.chr10:94757357G>A	BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"""SEC15-like 1 (S. cerevisiae)"""	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	ENST00000260762.6:c.2080G>A	10.37:g.94757357G>A	ENSP00000260762:p.Val694Ile					EXOC6_ENST00000260762.6_Missense_Mutation_p.V694I|EXOC6_ENST00000443748.2_Missense_Mutation_p.V591I|EXOC6_ENST00000371547.4_Missense_Mutation_p.V710I	p.V689I	NM_001013848.2	NP_001013870.1	Q8TAG9	EXOC6_HUMAN			19	2094	+		Colorectal(252;0.123)	694					E9PHI3|Q5VXH8|Q9NZ24	Missense_Mutation	SNP	ENST00000260762.6	37	c.2065G>A	CCDS7424.2	.	.	.	.	.	.	.	.	.	.	G	17.64	3.438808	0.62955	.	.	ENSG00000138190	ENST00000371547;ENST00000371552;ENST00000443748;ENST00000260762;ENST00000458552	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.55529	0.1926	M	0.80508	2.5	0.80722	D	1	B;B;D;P;P;P	0.59767	0.391;0.392;0.986;0.763;0.857;0.932	B;B;P;P;P;P	0.59012	0.169;0.241;0.85;0.776;0.67;0.768	T	0.63088	-0.6715	10	0.72032	D	0.01	-7.7306	18.4161	0.90571	0.0:0.0:1.0:0.0	.	710;591;686;647;694;689	F2Z2Q3;E7EW84;B4DEZ1;B2RDH5;Q8TAG9;E9PHI3	.;.;.;.;EXOC6_HUMAN;.	I	710;689;591;694;43	ENSP00000360602:V710I;ENSP00000360607:V689I;ENSP00000396206:V591I;ENSP00000260762:V694I;ENSP00000398982:V43I	ENSP00000260762:V694I	V	+	1	0	EXOC6	94747337	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.419000	0.82065	0.650000	0.86243	GTC		0.348	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049410.2	NM_019053		12	45	0	0	0	1	0	12	45				
JUP	3728	broad.mit.edu	37	17	39921284	39921284	+	Silent	SNP	G	G	A	rs146804895		TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr17:39921284G>A	ENST00000393931.3	-	6	1063	c.945C>T	c.(943-945)ctC>ctT	p.L315L	JUP_ENST00000310706.5_Silent_p.L315L|JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Silent_p.L315L	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	315					adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		TGATCTGCACGAGGGCCTGGG	0.542																																					Colon(16;42 520 6044 17852 28530)	ENST00000393931.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23						c.(943-945)ctC>ctT		junction plakoglobin		G	,	2,4404	4.2+/-10.8	0,2,2201	119.0	100.0	107.0		945,945	-12.2	0.2	17	dbSNP_134	107	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	JUP	NM_002230.2,NM_021991.2	,	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	,	315/746,315/746	39921284	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	3728				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr17:39921284G>A	AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"""Armadillo repeat containing"""	6207	protein-coding gene	gene with protein product		173325	"""catenin (cadherin-associated protein), gamma 80kDa"""	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.945C>T	17.37:g.39921284G>A						JUP_ENST00000393930.1_Silent_p.L315L|JUP_ENST00000310706.5_Silent_p.L315L|JUP_ENST00000540235.1_Intron	p.L315L	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)	6	1063	-		Breast(137;0.000162)	315					Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Silent	SNP	ENST00000393931.3	37	c.945C>T	CCDS11407.1																																																																																				0.542	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257406.1			11	86	0	0	0	1	0	11	86				
LRP6	4040	broad.mit.edu	37	12	12419613	12419613	+	Splice_Site	SNP	A	A	G			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr12:12419613A>G	ENST00000261349.4	-	1	132		c.e1+1		LRP6_ENST00000543091.1_Splice_Site	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6						anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CACTCTTCCCACCTCTCAGGA	0.642																																						ENST00000261349.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.e1+1		low density lipoprotein receptor-related protein 6							52.0	43.0	46.0					12																	12419613		2202	4300	6502	SO:0001630	splice_region_variant	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12419613A>G	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.55+1T>C	12.37:g.12419613A>G						LRP6_ENST00000543091.1_Splice_Site		NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN			1	132	-		Prostate(47;0.0865)						Q17RZ2	Splice_Site	SNP	ENST00000261349.4	37		CCDS8647.1	.	.	.	.	.	.	.	.	.	.	A	15.47	2.842012	0.51057	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	.	.	.	4.06	2.88	0.33553	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.883	0.29633	0.8157:0.0:0.0:0.1843	.	.	.	.	.	-1	.	.	.	-	.	.	LRP6	12310880	0.989000	0.36119	0.975000	0.42487	0.877000	0.50540	2.219000	0.42899	0.668000	0.31126	0.391000	0.25812	.		0.642	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1		Intron	5	26	0	0	0	1	0	5	26				
RAB39A	54734	broad.mit.edu	37	11	107799349	107799349	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr11:107799349G>T	ENST00000320578.2	+	1	121	c.55G>T	c.(55-57)Gtg>Ttg	p.V19L	SLC35F2_ENST00000429869.1_5'Flank|SLC35F2_ENST00000525071.1_5'Flank	NM_017516.1	NP_059986.1	Q14964	RB39A_HUMAN	RAB39A, member RAS oncogene family	19					phagosome acidification (GO:0090383)|phagosome-lysosome fusion (GO:0090385)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)										GGACTCCACCGTGGGCAAGTC	0.711																																						ENST00000320578.2																			0											c.(55-57)Gtg>Ttg		RAB39A, member RAS oncogene family							54.0	52.0	52.0					11																	107799349		2201	4298	6499	SO:0001583	missense	54734				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr11:107799349G>T	X99962	CCDS8338.1	11q22.3	2011-11-22	2011-11-22	2011-11-22	ENSG00000179331	ENSG00000179331		"""RAB, member RAS oncogene"""	16521	protein-coding gene	gene with protein product	"""rab-related GTP-binding protein"""		"""RAB39, member RAS oncogene family"""	RAB39		9119394	Standard	NM_017516		Approved		uc001pjt.3	Q14964	OTTHUMG00000166367	ENST00000320578.2:c.55G>T	11.37:g.107799349G>T	ENSP00000322594:p.Val19Leu						p.V19L	NM_017516.1	NP_059986.1	Q14964	RB39A_HUMAN			1	121	+			19					A8KAA4|Q8N6W2	Missense_Mutation	SNP	ENST00000320578.2	37	c.55G>T	CCDS8338.1	.	.	.	.	.	.	.	.	.	.	G	34	5.380477	0.95945	.	.	ENSG00000179331	ENST00000320578	D	0.82526	-1.62	4.61	4.61	0.57282	Small GTP-binding protein domain (1);	0.000000	0.45361	D	0.000375	D	0.93864	0.8037	H	0.96430	3.82	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.95654	0.8709	10	0.87932	D	0	.	16.7242	0.85417	0.0:0.0:1.0:0.0	.	19	Q14964	RB39A_HUMAN	L	19	ENSP00000322594:V19L	ENSP00000322594:V19L	V	+	1	0	RAB39	107304559	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	7.499000	0.81566	2.548000	0.85928	0.555000	0.69702	GTG		0.711	RAB39A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389423.1	NM_017516		4	27	1	0	1.024e-07	1	1.06264e-07	4	27				
STRIP2	57464	broad.mit.edu	37	7	129110495	129110495	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr7:129110495C>A	ENST00000249344.2	+	18	1923	c.1883C>A	c.(1882-1884)tCa>tAa	p.S628*	STRIP2_ENST00000435494.2_Nonsense_Mutation_p.S628*	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	628					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)		p.S628*(1)									TACAGCATCTCAGTCCTGGAT	0.463																																						ENST00000249344.2																			1	Substitution - Nonsense(1)	p.S628*(1)	urinary_tract(1)								c.(1882-1884)tCa>tAa		striatin interacting protein 2							156.0	129.0	138.0					7																	129110495		2203	4300	6503	SO:0001587	stop_gained	57464							g.chr7:129110495C>A	AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog B (yeast)"""		"""family with sequence similarity 40, member B"""	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.1883C>A	7.37:g.129110495C>A	ENSP00000249344:p.Ser628*					STRIP2_ENST00000435494.2_Nonsense_Mutation_p.S628*	p.S628*	NM_020704.2	NP_065755.1					18	1923	+								Q8WUZ4	Nonsense_Mutation	SNP	ENST00000249344.2	37	c.1883C>A	CCDS34752.1	.	.	.	.	.	.	.	.	.	.	C	37	6.152417	0.97329	.	.	ENSG00000128578	ENST00000249344;ENST00000435494	.	.	.	5.74	4.86	0.63082	.	0.121415	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-3.1967	13.8539	0.63515	0.0:0.9272:0.0:0.0728	.	.	.	.	X	628	.	ENSP00000249344:S628X	S	+	2	0	FAM40B	128897731	0.998000	0.40836	0.939000	0.37840	0.863000	0.49368	3.437000	0.52863	1.439000	0.47511	0.650000	0.86243	TCA		0.463	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1	NM_001134336		8	31	1	0	3.09899e-07	1	3.19583e-07	8	31				
PIK3CD	5293	broad.mit.edu	37	1	9778813	9778813	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr1:9778813C>T	ENST00000377346.4	+	9	1277	c.1082C>T	c.(1081-1083)tCg>tTg	p.S361L	PIK3CD_ENST00000536656.1_Missense_Mutation_p.S326L|PIK3CD_ENST00000361110.2_Missense_Mutation_p.S326L|PIK3CD_ENST00000543390.1_Missense_Mutation_p.S28L	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	361	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-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;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	GTGTCCAGCTCGGAGGTGAGC	0.637																																						ENST00000536656.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(976-978)tCg>tTg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta							100.0	85.0	90.0					1																	9778813		2203	4300	6503	SO:0001583	missense	5293				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr1:9778813C>T		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.1082C>T	1.37:g.9778813C>T	ENSP00000366563:p.Ser361Leu					PIK3CD_ENST00000377346.4_Missense_Mutation_p.S361L|PIK3CD_ENST00000361110.2_Missense_Mutation_p.S326L|PIK3CD_ENST00000543390.1_Missense_Mutation_p.S28L	p.S326L			O00329	PK3CD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	9	1185	+	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-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)	361					A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	ENST00000377346.4	37	c.977C>T	CCDS104.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.345405	0.61073	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563;ENST00000543390	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.45	3.56	0.40772	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (2);	0.619858	0.16330	N	0.219142	T	0.76219	0.3957	M	0.69358	2.11	0.36966	D	0.893599	B;B;B	0.32507	0.209;0.373;0.373	B;B;B	0.35859	0.151;0.212;0.212	T	0.76534	-0.2924	10	0.54805	T	0.06	-1.2131	10.9995	0.47596	0.0:0.7999:0.1299:0.0702	.	361;326;361	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	L	326;361;326;326;28	ENSP00000446444:S326L;ENSP00000366563:S361L;ENSP00000354410:S326L;ENSP00000443811:S28L	ENSP00000353766:S326L	S	+	2	0	PIK3CD	9701400	0.863000	0.29885	0.974000	0.42286	0.552000	0.35366	1.639000	0.37176	0.647000	0.30713	0.650000	0.86243	TCG		0.637	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		13	53	0	0	0	1	0	13	53				
ZNF546	339327	broad.mit.edu	37	19	40520952	40520952	+	Missense_Mutation	SNP	G	G	A	rs559273469		TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr19:40520952G>A	ENST00000347077.4	+	7	1991	c.1775G>A	c.(1774-1776)cGt>cAt	p.R592H	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Missense_Mutation_p.R566H	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	592					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(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ATTTTTAGTCGTCGCTATAAT	0.353													G|||	1	0.000199681	0.0	0.0	5008	,	,		21293	0.001		0.0	False		,,,				2504	0.0					ENST00000347077.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34						c.(1774-1776)cGt>cAt		zinc finger protein 546							48.0	50.0	49.0					19																	40520952		2203	4300	6503	SO:0001583	missense	339327				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40520952G>A	BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"""Zinc fingers, C2H2-type"", ""-"""	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.1775G>A	19.37:g.40520952G>A	ENSP00000339823:p.Arg592His					ZNF546_ENST00000600094.1_Missense_Mutation_p.R566H|ZNF546_ENST00000596894.1_Intron	p.R592H	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN			7	1991	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		592					A8K913	Missense_Mutation	SNP	ENST00000347077.4	37	c.1775G>A	CCDS12548.1	.	.	.	.	.	.	.	.	.	.	g	6.050	0.377623	0.11466	.	.	ENSG00000187187	ENST00000347077;ENST00000392042	T	0.05081	3.5	3.0	0.758	0.18432	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02688	0.0081	N	0.11560	0.145	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.48043	-0.9069	9	0.15499	T	0.54	.	2.4686	0.04559	0.2629:0.0:0.4985:0.2386	.	592	Q86UE3	ZN546_HUMAN	H	592;201	ENSP00000339823:R592H	ENSP00000339823:R592H	R	+	2	0	ZNF546	45212792	0.000000	0.05858	0.005000	0.12908	0.994000	0.84299	-1.602000	0.02079	0.270000	0.21984	0.655000	0.94253	CGT		0.353	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544		12	26	0	0	0	1	0	12	26				
SLITRK5	26050	broad.mit.edu	37	13	88328729	88328729	+	Silent	SNP	C	C	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr13:88328729C>A	ENST00000325089.6	+	2	1305	c.1086C>A	c.(1084-1086)atC>atA	p.I362I	SLITRK5_ENST00000400028.3_Silent_p.I121I	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	362					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GCCCCAGCATCGCCTATCAGA	0.612																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(1084-1086)atC>atA		SLIT and NTRK-like family, member 5							63.0	60.0	61.0					13																	88328729		2203	4300	6503	SO:0001819	synonymous_variant	26050					integral to membrane		g.chr13:88328729C>A	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1086C>A	13.37:g.88328729C>A						SLITRK5_ENST00000400028.3_Silent_p.I121I	p.I362I	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	1305	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		362					B3KNB8|B4DSH5|Q5VT81	Silent	SNP	ENST00000325089.6	37	c.1086C>A	CCDS9465.1																																																																																				0.612	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			9	71	1	0	7.48243e-07	1	7.66833e-07	9	71				
UBE2M	9040	broad.mit.edu	37	19	59067527	59067527	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr19:59067527C>T	ENST00000253023.3	-	6	1059	c.481G>A	c.(481-483)Gag>Aag	p.E161K	CHMP2A_ENST00000600118.1_5'Flank|CHMP2A_ENST00000312547.2_5'Flank|AC016629.8_ENST00000593642.1_RNA|CHMP2A_ENST00000601220.1_5'Flank	NM_003969.3	NP_003960.1	P61081	UBC12_HUMAN	ubiquitin-conjugating enzyme E2M	161					cellular protein modification process (GO:0006464)|positive regulation of neuron apoptotic process (GO:0043525)|protein neddylation (GO:0045116)|protein ubiquitination (GO:0016567)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|NEDD8 ligase activity (GO:0019788)|ribosomal S6-glutamic acid ligase activity (GO:0018169)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		ACGTTCTGCTCAAACAGCCGC	0.637																																						ENST00000253023.3																			0				large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5						c.(481-483)Gag>Aag		ubiquitin-conjugating enzyme E2M							50.0	52.0	51.0					19																	59067527		2203	4300	6503	SO:0001583	missense	9040				protein neddylation		ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity	g.chr19:59067527C>T	AB012191	CCDS12987.1	19q13.43	2011-05-19	2011-05-19		ENSG00000130725	ENSG00000130725		"""Ubiquitin-conjugating enzymes E2"""	12491	protein-coding gene	gene with protein product		603173	"""ubiquitin-conjugating enzyme E2M (homologous to yeast UBC12)"", ""ubiquitin-conjugating enzyme E2M (UBC12 homolog, yeast)"""			9694792	Standard	NM_003969		Approved	hUbc12, UBC12	uc002qtl.4	P61081		ENST00000253023.3:c.481G>A	19.37:g.59067527C>T	ENSP00000253023:p.Glu161Lys						p.E161K	NM_003969.3	NP_003960.1	P61081	UBC12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	6	1059	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	161					O76069|Q8VC50	Missense_Mutation	SNP	ENST00000253023.3	37	c.481G>A	CCDS12987.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.134586	0.77662	.	.	ENSG00000130725	ENST00000253023	T	0.35973	1.28	4.38	4.38	0.52667	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.64402	D	0.000005	T	0.40347	0.1113	L	0.57536	1.79	0.80722	D	1	P	0.42203	0.773	P	0.44647	0.456	T	0.16958	-1.0385	10	0.27785	T	0.31	-21.6184	14.813	0.70010	0.0:1.0:0.0:0.0	.	161	P61081	UBC12_HUMAN	K	161	ENSP00000253023:E161K	ENSP00000253023:E161K	E	-	1	0	UBE2M	63759339	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.530000	0.53539	2.426000	0.82243	0.561000	0.74099	GAG		0.637	UBE2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467097.1	NM_003969		28	58	0	0	0	1	0	28	58				
CDC25C	995	broad.mit.edu	37	5	137626346	137626346	+	Silent	SNP	C	C	G			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr5:137626346C>G	ENST00000323760.6	-	9	1124	c.846G>C	c.(844-846)ctG>ctC	p.L282L	CDC25C_ENST00000357274.3_Silent_p.L239L|CDC25C_ENST00000348983.3_Silent_p.L209L|CDC25C_ENST00000415130.2_Silent_p.L209L|CDC25C_ENST00000513970.1_Silent_p.L282L|CDC25C_ENST00000356505.3_Silent_p.L252L|CDC25C_ENST00000514555.1_Silent_p.L252L	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	282					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|WW domain binding (GO:0050699)			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			AATCACCAATCAGGTGCCCCT	0.433																																						ENST00000323760.6																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16						c.(844-846)ctG>ctC		cell division cycle 25C							87.0	75.0	79.0					5																	137626346		2203	4300	6503	SO:0001819	synonymous_variant	995				cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding	g.chr5:137626346C>G	M34065	CCDS4202.1, CCDS4203.1	5q31	2013-01-17	2013-01-17		ENSG00000158402	ENSG00000158402		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1727	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 60"""	157680	"""cell division cycle 25C"", ""cell division cycle 25 homolog C (S. cerevisiae)"", ""cell division cycle 25 homolog C (S. pombe)"""	CDC25		1703321	Standard	XM_005272145		Approved	PPP1R60	uc003lcp.1	P30307	OTTHUMG00000129203	ENST00000323760.6:c.846G>C	5.37:g.137626346C>G						CDC25C_ENST00000356505.3_Silent_p.L252L|CDC25C_ENST00000348983.3_Silent_p.L209L|CDC25C_ENST00000415130.2_Silent_p.L209L|CDC25C_ENST00000357274.3_Silent_p.L239L|CDC25C_ENST00000513970.1_Silent_p.L282L|CDC25C_ENST00000514555.1_Silent_p.L252L	p.L282L	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		9	1124	-			282					D3DQB8|Q96PL3|Q9H168|Q9H2E8|Q9H2E9|Q9H2F1	Silent	SNP	ENST00000323760.6	37	c.846G>C	CCDS4202.1	.	.	.	.	.	.	.	.	.	.	C	7.469	0.646186	0.14451	.	.	ENSG00000158402	ENST00000514017	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	T	0.64616	0.2614	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61845	-0.6979	4	.	.	.	-25.3377	12.6767	0.56897	0.1652:0.8348:0.0:0.0	.	.	.	.	H	77	.	.	D	-	1	0	CDC25C	137654245	0.999000	0.42202	0.996000	0.52242	0.950000	0.60333	0.297000	0.19101	2.690000	0.91761	0.585000	0.79938	GAT		0.433	CDC25C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251280.1			15	36	0	0	0	1	0	15	36				
USP53	54532	broad.mit.edu	37	4	120169904	120169904	+	Splice_Site	SNP	C	C	T	rs201368952		TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr4:120169904C>T	ENST00000274030.6	+	7	1418	c.239C>T	c.(238-240)aCg>aTg	p.T80M	USP53_ENST00000450251.1_Splice_Site_p.T80M	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53											breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						GATTCCCAGACGATATTTGCA	0.378																																						ENST00000450251.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						c.e3-1		ubiquitin specific peptidase 53							145.0	125.0	131.0					4																	120169904		1908	4116	6024	SO:0001630	splice_region_variant	54532				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr4:120169904C>T	BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"""Ubiquitin-specific peptidases"""	29255	protein-coding gene	gene with protein product			"""ubiquitin specific protease 53"""			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.238-1C>T	4.37:g.120169904C>T						USP53_ENST00000274030.6_Splice_Site_p.T80_splice	p.T80_splice			Q70EK8	UBP53_HUMAN			3	783	+			80						Splice_Site	SNP	ENST00000274030.6	37	c.237_splice	CCDS43265.1	.	.	.	.	.	.	.	.	.	.	c	16.53	3.148156	0.57151	.	.	ENSG00000145390	ENST00000274030;ENST00000450251	T;T	0.30981	1.51;1.51	6.01	4.31	0.51392	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.430894	0.28273	N	0.015950	T	0.33206	0.0855	N	0.14661	0.345	0.26582	N	0.973355	D	0.76494	0.999	D	0.68621	0.959	T	0.08994	-1.0695	10	0.48119	T	0.1	-7.9221	8.738	0.34541	0.0:0.7454:0.1235:0.1312	.	80	Q70EK8	UBP53_HUMAN	M	80	ENSP00000274030:T80M;ENSP00000409906:T80M	ENSP00000274030:T80M	T	+	2	0	USP53	120389352	0.995000	0.38212	0.930000	0.37139	0.862000	0.49288	2.772000	0.47678	0.900000	0.36469	-0.788000	0.03338	ACG		0.378	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	XM_052597	Missense_Mutation	26	33	0	0	0	1	0	26	33				
SRRM4	84530	broad.mit.edu	37	12	119568489	119568489	+	Silent	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr12:119568489C>T	ENST00000267260.4	+	8	1009	c.621C>T	c.(619-621)cgC>cgT	p.R207R	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	207	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CCAGGCACCGCGGCCGGTCCC	0.627																																						ENST00000267260.4																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						c.(619-621)cgC>cgT		serine/arginine repetitive matrix 4							15.0	19.0	17.0					12																	119568489		1876	4094	5970	SO:0001819	synonymous_variant	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119568489C>T	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.621C>T	12.37:g.119568489C>T						SRRM4_ENST00000537597.1_3'UTR	p.R207R	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN			8	1009	+			207			Ser-rich.		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Silent	SNP	ENST00000267260.4	37	c.621C>T	CCDS44994.1																																																																																				0.627	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		5	26	0	0	0	1	0	5	26				
PPP1R26	9858	broad.mit.edu	37	9	138377643	138377643	+	Silent	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr9:138377643G>A	ENST00000356818.2	+	4	1836	c.1287G>A	c.(1285-1287)gtG>gtA	p.V429V	PPP1R26_ENST00000605286.1_Silent_p.V429V|PPP1R26_ENST00000604351.1_Silent_p.V429V|PPP1R26_ENST00000605660.1_Silent_p.V429V|PPP1R26_ENST00000401470.3_Silent_p.V429V|PPP1R26_ENST00000602993.1_Intron	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	429					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										AGAAGCTAGTGGCCACCAAGA	0.602																																						ENST00000356818.2																			0											c.(1285-1287)gtG>gtA		protein phosphatase 1, regulatory subunit 26							33.0	37.0	36.0					9																	138377643		2202	4300	6502	SO:0001819	synonymous_variant	9858					nucleolus	protein binding	g.chr9:138377643G>A	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.1287G>A	9.37:g.138377643G>A						PPP1R26_ENST00000605286.1_Silent_p.V429V|PPP1R26_ENST00000605660.1_Silent_p.V429V|PPP1R26_ENST00000604351.1_Silent_p.V429V|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Silent_p.V429V	p.V429V	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN			4	1836	+			429					Q86WU0|Q8WVV0|Q9Y4D3	Silent	SNP	ENST00000356818.2	37	c.1287G>A	CCDS6988.1																																																																																				0.602	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		11	23	0	0	0	1	0	11	23				
NEB	4703	broad.mit.edu	37	2	152574009	152574009	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr2:152574009T>C	ENST00000172853.10	-	10	890	c.743A>G	c.(742-744)gAa>gGa	p.E248G	NEB_ENST00000409198.1_Missense_Mutation_p.E248G|NEB_ENST00000397345.3_Missense_Mutation_p.E248G|NEB_ENST00000604864.1_Missense_Mutation_p.E248G|NEB_ENST00000603639.1_Missense_Mutation_p.E248G|NEB_ENST00000427231.2_Missense_Mutation_p.E248G			P20929	NEBU_HUMAN	nebulin	248					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)		AGCTTGCTGTTCAGCGAGACC	0.373																																						ENST00000397345.3																			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.(742-744)gAa>gGa		nebulin							137.0	122.0	126.0					2																	152574009		1874	4108	5982	SO:0001583	missense	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.chr2:152574009T>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.743A>G	2.37:g.152574009T>C	ENSP00000172853:p.Glu248Gly					NEB_ENST00000604864.1_Missense_Mutation_p.E248G|NEB_ENST00000427231.2_Missense_Mutation_p.E248G|NEB_ENST00000172853.10_Missense_Mutation_p.E248G|NEB_ENST00000603639.1_Missense_Mutation_p.E248G|NEB_ENST00000409198.1_Missense_Mutation_p.E248G	p.E248G	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	10	945	-			248					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.743A>G		.	.	.	.	.	.	.	.	.	.	T	23.5	4.426502	0.83667	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853;ENST00000439291	T;T;T;T	0.09723	2.95;2.96;2.95;2.95	5.76	5.76	0.90799	.	0.055415	0.64402	D	0.000001	T	0.23492	0.0568	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00827	-1.1550	10	0.51188	T	0.08	.	15.0485	0.71846	0.0:0.0:0.0:1.0	.	248	P20929	NEBU_HUMAN	G	248	ENSP00000386259:E248G;ENSP00000380505:E248G;ENSP00000416578:E248G;ENSP00000172853:E248G	ENSP00000172853:E248G	E	-	2	0	NEB	152282255	1.000000	0.71417	0.999000	0.59377	0.944000	0.59088	6.954000	0.76001	2.209000	0.71365	0.533000	0.62120	GAA		0.373	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		4	39	0	0	0	1	0	4	39				
ERBB3	2065	broad.mit.edu	37	12	56481628	56481628	+	Silent	SNP	C	C	G			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr12:56481628C>G	ENST00000267101.3	+	6	1103	c.663C>G	c.(661-663)ccC>ccG	p.P221P	ERBB3_ENST00000415288.2_Silent_p.P162P|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	221					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GCTTTGGGCCCAACCCCAACC	0.542																																						ENST00000267101.3																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(661-663)ccC>ccG		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							128.0	117.0	121.0					12																	56481628		2203	4300	6503	SO:0001819	synonymous_variant	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56481628C>G	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.663C>G	12.37:g.56481628C>G						ERBB3_ENST00000415288.2_Silent_p.P162P|ERBB3_ENST00000450146.2_Intron	p.P221P	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		6	1103	+			221					A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Silent	SNP	ENST00000267101.3	37	c.663C>G	CCDS31833.1																																																																																				0.542	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			25	88	0	0	0	1	0	25	88				
ARL5B	221079	broad.mit.edu	37	10	18963007	18963007	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr10:18963007G>C	ENST00000377275.3	+	5	667	c.434G>C	c.(433-435)aGt>aCt	p.S145T		NM_178815.3	NP_848930.1	Q96KC2	ARL5B_HUMAN	ADP-ribosylation factor-like 5B	145					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			lung(1)|ovary(1)	2						CTCACCCTTAGTTCAATTAAG	0.433																																						ENST00000377275.3																			0				lung(1)|ovary(1)	2						c.(433-435)aGt>aCt		ADP-ribosylation factor-like 5B							124.0	107.0	112.0					10																	18963007		2203	4300	6503	SO:0001583	missense	221079				small GTPase mediated signal transduction	intracellular	GTP binding	g.chr10:18963007G>C	AF494061	CCDS7131.1	10p13	2014-05-09	2005-11-03	2005-11-03	ENSG00000165997	ENSG00000165997		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	23052	protein-coding gene	gene with protein product		608909	"""ADP-ribosylation factor-like 8"""	ARL8		12853149	Standard	XM_005252400		Approved		uc001iqd.1	Q96KC2	OTTHUMG00000017765	ENST00000377275.3:c.434G>C	10.37:g.18963007G>C	ENSP00000366487:p.Ser145Thr						p.S145T	NM_178815.3	NP_848930.1	Q96KC2	ARL5B_HUMAN			5	667	+			145						Missense_Mutation	SNP	ENST00000377275.3	37	c.434G>C	CCDS7131.1	.	.	.	.	.	.	.	.	.	.	G	7.446	0.641784	0.14451	.	.	ENSG00000165997	ENST00000377275	T	0.63255	-0.03	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.41534	0.1163	N	0.02286	-0.61	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31251	-0.9950	10	0.44086	T	0.13	-15.8959	19.6088	0.95594	0.0:0.0:1.0:0.0	.	145	Q96KC2	ARL5B_HUMAN	T	145	ENSP00000366487:S145T	ENSP00000366487:S145T	S	+	2	0	ARL5B	19003013	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	5.499000	0.66937	2.636000	0.89361	0.467000	0.42956	AGT		0.433	ARL5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047078.1	NM_178815		5	46	0	0	0	1	0	5	46				
SPTBN4	57731	broad.mit.edu	37	19	41025868	41025868	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr19:41025868C>T	ENST00000352632.3	+	16	3550	c.3464C>T	c.(3463-3465)gCg>gTg	p.A1155V	SPTBN4_ENST00000598249.1_Missense_Mutation_p.A1155V|SPTBN4_ENST00000595535.1_Missense_Mutation_p.A1155V|SPTBN4_ENST00000338932.3_Missense_Mutation_p.A1155V|SPTBN4_ENST00000344104.3_Missense_Mutation_p.A1155V			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1155					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCCAGCGAGGCGCTGCTGGCC	0.687																																						ENST00000352632.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(3463-3465)gCg>gTg		spectrin, beta, non-erythrocytic 4							5.0	7.0	6.0					19																	41025868		1957	3835	5792	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41025868C>T	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.3464C>T	19.37:g.41025868C>T	ENSP00000263373:p.Ala1155Val					SPTBN4_ENST00000338932.3_Missense_Mutation_p.A1155V|SPTBN4_ENST00000598249.1_Missense_Mutation_p.A1155V|SPTBN4_ENST00000595535.1_Missense_Mutation_p.A1155V|SPTBN4_ENST00000344104.3_Missense_Mutation_p.A1155V	p.A1155V			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		16	3550	+			1155					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.3464C>T	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.857428	0.51376	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.52983	0.64;0.64;0.64	4.17	3.11	0.35812	.	.	.	.	.	T	0.56001	0.1956	L	0.48642	1.525	0.80722	D	1	D;B	0.71674	0.998;0.112	D;B	0.74674	0.984;0.015	T	0.50575	-0.8812	9	0.34782	T	0.22	.	9.0082	0.36124	0.2207:0.7793:0.0:0.0	.	1155;1155	Q9H254;Q71S06	SPTN4_HUMAN;.	V	1155	ENSP00000263373:A1155V;ENSP00000340345:A1155V;ENSP00000340741:A1155V	ENSP00000340345:A1155V	A	+	2	0	SPTBN4	45717708	0.975000	0.34042	1.000000	0.80357	0.899000	0.52679	3.089000	0.50183	0.931000	0.37242	0.462000	0.41574	GCG		0.687	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			4	14	0	0	0	1	0	4	14				
MPL	4352	broad.mit.edu	37	1	43804213	43804213	+	Splice_Site	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr1:43804213G>A	ENST00000372470.3	+	3	255	c.213G>A	c.(211-213)cgG>cgA	p.R71R	MPL_ENST00000413998.2_Splice_Site_p.R71R	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	MPL proto-oncogene, thrombopoietin receptor	71					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|platelet activation (GO:0030168)|regulation of chemokine production (GO:0032642)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			Eltrombopag(DB06210)|Romiplostim(DB05332)	ATGCCAACAGGGAGAAGCCCC	0.587			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia																														NSCLC(52;534 1204 10016 41452 44427)	ENST00000372470.3			yes	Dom	yes	Familial essential thrombocythemia	1	p34	4352	Mis	"""myeloproliferative leukemia virus oncogene, thrombopoietin receptor"""	yes	congenital amegakaryocytic thrombocytopenia	L		MPD	MPD		0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567						c.e3-1		myeloproliferative leukemia virus oncogene							69.0	67.0	68.0					1																	43804213		2203	4300	6503	SO:0001630	splice_region_variant	4352				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity	g.chr1:43804213G>A	M90102	CCDS483.1	1p34	2014-09-17	2014-06-26		ENSG00000117400	ENSG00000117400		"""CD molecules"", ""Fibronectin type III domain containing"""	7217	protein-coding gene	gene with protein product		159530	"""myeloproliferative leukemia virus oncogene"""			1608974	Standard	NM_005373		Approved	CD110, TPOR	uc001ciw.3	P40238	OTTHUMG00000007429	ENST00000372470.3:c.213-1G>A	1.37:g.43804213G>A						MPL_ENST00000413998.2_Splice_Site_p.R71_splice	p.R71_splice	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN			3	255	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	71					Q5JUZ0	Splice_Site	SNP	ENST00000372470.3	37	c.212_splice	CCDS483.1																																																																																				0.587	MPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019522.1	NM_005373	Silent	27	45	0	0	0	1	0	27	45				
CCDC13	152206	broad.mit.edu	37	3	42781263	42781263	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr3:42781263C>T	ENST00000310232.6	-	9	1110	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K	CCDC13-AS1_ENST00000418161.1_RNA|CCDC13-AS1_ENST00000446950.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	343										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						TTTAGCTCTTCAAGCTCTCTC	0.517																																						ENST00000310232.6																			0				endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						c.(1027-1029)Gaa>Aaa		coiled-coil domain containing 13							164.0	142.0	149.0					3																	42781263		2203	4300	6503	SO:0001583	missense	152206							g.chr3:42781263C>T	AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.1027G>A	3.37:g.42781263C>T	ENSP00000309836:p.Glu343Lys					CCDC13-AS1_ENST00000418161.1_RNA|CCDC13-AS1_ENST00000446950.1_RNA	p.E343K	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN			9	1110	-			343						Missense_Mutation	SNP	ENST00000310232.6	37	c.1027G>A	CCDS2705.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.831990	0.50845	.	.	ENSG00000244607	ENST00000310232	T	0.25912	1.77	5.42	5.42	0.78866	.	0.228478	0.43579	D	0.000543	T	0.30355	0.0762	M	0.61703	1.905	0.35592	D	0.807158	B	0.32753	0.383	B	0.31442	0.13	T	0.34850	-0.9812	10	0.39692	T	0.17	.	17.9733	0.89119	0.0:1.0:0.0:0.0	.	343	Q8IYE1	CCD13_HUMAN	K	343	ENSP00000309836:E343K	ENSP00000309836:E343K	E	-	1	0	CCDC13	42756267	0.958000	0.32768	0.194000	0.23346	0.530000	0.34684	2.655000	0.46707	2.553000	0.86117	0.561000	0.74099	GAA		0.517	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	NM_144719		11	72	0	0	0	1	0	11	72				
GMFB	2764	broad.mit.edu	37	14	54950435	54950435	+	Silent	SNP	C	C	G			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr14:54950435C>G	ENST00000358056.3	-	2	322	c.54G>C	c.(52-54)ctG>ctC	p.L18L	GMFB_ENST00000553566.1_5'UTR|GMFB_ENST00000554908.1_Silent_p.L18L	NM_004124.2	NP_004115.1	P60983	GMFB_HUMAN	glia maturation factor, beta	18	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of protein kinase activity (GO:0006469)|nervous system development (GO:0007399)|positive regulation of catalytic activity (GO:0043085)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	intracellular (GO:0005622)	enzyme activator activity (GO:0008047)|protein kinase inhibitor activity (GO:0004860)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)	8						GAAACTTTCTCAGCTTTTCCA	0.323																																						ENST00000554908.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)	8						c.(52-54)ctG>ctC		glia maturation factor, beta							77.0	69.0	72.0					14																	54950435		2202	4300	6502	SO:0001819	synonymous_variant	2764				nervous system development|protein phosphorylation	intracellular	actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity|signal transducer activity	g.chr14:54950435C>G	M86492	CCDS9718.1	14q22.2	2010-07-06			ENSG00000197045	ENSG00000197045			4373	protein-coding gene	gene with protein product		601713				1712830	Standard	NM_004124		Approved	GMF	uc021rtf.1	P60983	OTTHUMG00000140307	ENST00000358056.3:c.54G>C	14.37:g.54950435C>G						GMFB_ENST00000553566.1_5'UTR|GMFB_ENST00000358056.3_Silent_p.L18L	p.L18L			P60983	GMFB_HUMAN			2	151	-			18			ADF-H.		B2R499|P17774|Q9BS35	Silent	SNP	ENST00000358056.3	37	c.54G>C	CCDS9718.1																																																																																				0.323	GMFB-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276903.2	NM_004124		7	23	0	0	0	1	0	7	23				
CAMSAP1	157922	broad.mit.edu	37	9	138714833	138714833	+	Silent	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr9:138714833C>T	ENST00000389532.4	-	11	1738	c.1674G>A	c.(1672-1674)gaG>gaA	p.E558E	CAMSAP1_ENST00000312405.6_Silent_p.E280E|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Silent_p.E569E	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	558					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CCCTGGGGAACTCCGGGTCAG	0.567																																						ENST00000389532.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47						c.(1672-1674)gaG>gaA		calmodulin regulated spectrin-associated protein 1							139.0	152.0	148.0					9																	138714833		2203	4300	6503	SO:0001819	synonymous_variant	157922					cytoplasm|microtubule		g.chr9:138714833C>T	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.1674G>A	9.37:g.138714833C>T						CAMSAP1_ENST00000312405.6_Silent_p.E280E|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Silent_p.E569E	p.E558E	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	11	1738	-			558					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Silent	SNP	ENST00000389532.4	37	c.1674G>A	CCDS35176.2																																																																																				0.567	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		91	188	0	0	0	1	0	91	188				
RMND1	55005	broad.mit.edu	37	6	151766915	151766915	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr6:151766915C>A	ENST00000367303.4	-	2	154	c.32G>T	c.(31-33)aGa>aTa	p.R11I	RMND1_ENST00000491268.1_5'UTR|RMND1_ENST00000336451.3_5'Flank	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	11					translation (GO:0006412)	mitochondrion (GO:0005739)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		ATGATGAGATCTGGCCACGGC	0.363																																						ENST00000367303.4																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(31-33)aGa>aTa		required for meiotic nuclear division 1 homolog (S. cerevisiae)							34.0	30.0	31.0					6																	151766915		2203	4300	6503	SO:0001583	missense	55005							g.chr6:151766915C>A	AK000634	CCDS5232.1, CCDS75539.1	6q25.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000155906	ENSG00000155906			21176	protein-coding gene	gene with protein product		614917	"""chromosome 6 open reading frame 96"""	C6orf96			Standard	NM_001271937		Approved	bA351K16.3, FLJ20627, RMD1	uc003qoi.3	Q9NWS8	OTTHUMG00000015837	ENST00000367303.4:c.32G>T	6.37:g.151766915C>A	ENSP00000356272:p.Arg11Ile					RMND1_ENST00000491268.1_5'UTR	p.R11I	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)	2	154	-		Ovarian(120;0.125)	11					A8K8H4|Q0VDG6|Q5SZ48|Q5SZ83|Q6NSC5|Q96EN7	Missense_Mutation	SNP	ENST00000367303.4	37	c.32G>T	CCDS5232.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.640213	0.29157	.	.	ENSG00000155906	ENST00000367303	T	0.45276	0.9	5.57	2.35	0.29111	.	1.103710	0.06968	N	0.817533	T	0.10852	0.0265	N	0.14661	0.345	0.09310	N	0.999998	B;B	0.29716	0.25;0.255	B;B	0.30401	0.115;0.052	T	0.33007	-0.9885	10	0.49607	T	0.09	-1.1399	5.5303	0.16980	0.0:0.4807:0.2962:0.2231	.	11;11	Q9NWS8-3;Q9NWS8	.;RMND1_HUMAN	I	11	ENSP00000356272:R11I	ENSP00000356272:R11I	R	-	2	0	RMND1	151808608	0.017000	0.18338	0.006000	0.13384	0.006000	0.05464	0.018000	0.13422	0.706000	0.31912	0.563000	0.77884	AGA		0.363	RMND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042718.2	NM_017909		3	26	1	0	0.115264	1	0.115264	3	26				
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C	rs370761877		TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1760				P -> A (in Ref. 3; CAI56757). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)	p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308																																						ENST00000302558.3																			12	Substitution - Missense(12)	p.P1760A(12)	prostate(6)|urinary_tract(2)|endometrium(2)|kidney(2)	endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(5278-5280)Cct>Gct		RANBP2-like and GRIP domain containing 8							235.0	168.0	189.0					2																	113127775		686	1558	2244	SO:0001583	missense	727851							g.chr2:113127775G>C	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.5278C>G	2.37:g.113127775G>C	ENSP00000306637:p.Pro1760Ala					RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	p.P1760A	NM_001164463.1	NP_001157935.1					23	5469	-								Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	c.5278C>G	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.892319	0.00522	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.36520	1.25;1.25	0.719	0.719	0.18208	.	.	.	.	.	T	0.11239	0.0274	N	0.02011	-0.69	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	9	0.10902	T	0.67	-6.3628	6.3935	0.21599	0.0:0.6881:0.3119:0.0	.	1760	O14715	RGPD8_HUMAN	A	1760;1620	ENSP00000306637:P1760A;ENSP00000386511:P1620A	ENSP00000306637:P1760A	P	-	1	0	RGPD8	112844246	0.746000	0.28272	0.842000	0.33263	0.015000	0.08874	0.243000	0.18106	-0.105000	0.12132	-1.123000	0.02005	CCT		0.308	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		3	46	0	0	0	1	0	3	46				
PCDH18	54510	broad.mit.edu	37	4	138442219	138442219	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr4:138442219C>A	ENST00000344876.4	-	4	3758	c.3372G>T	c.(3370-3372)gaG>gaT	p.E1124D	PCDH18_ENST00000412923.2_Missense_Mutation_p.E1123D|PCDH18_ENST00000510305.1_Missense_Mutation_p.E335D|PCDH18_ENST00000507846.1_Missense_Mutation_p.E903D|PCDH18_ENST00000511115.1_Missense_Mutation_p.E304D	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	1124	Interaction with DAB1. {ECO:0000250}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GTTTGTTAATCTCTGCCACCA	0.408																																						ENST00000344876.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(3370-3372)gaG>gaT		protocadherin 18							66.0	62.0	64.0					4																	138442219		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138442219C>A	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.3372G>T	4.37:g.138442219C>A	ENSP00000355082:p.Glu1124Asp					PCDH18_ENST00000412923.2_Missense_Mutation_p.E1123D|PCDH18_ENST00000511115.1_Missense_Mutation_p.E304D|PCDH18_ENST00000510305.1_Missense_Mutation_p.E335D|PCDH18_ENST00000507846.1_Missense_Mutation_p.E903D	p.E1124D	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN			4	3758	-	all_hematologic(180;0.24)		1124			Interaction with DAB1 (By similarity).		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.3372G>T	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.460563	0.43736	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846;ENST00000510305;ENST00000511115	T;T;T;T;T	0.56776	0.55;0.55;0.44;1.23;1.25	5.09	4.26	0.50523	.	0.000000	0.43579	D	0.000552	T	0.54127	0.1839	N	0.19112	0.55	0.47009	D	0.999284	D;D;D;D	0.71674	0.998;0.997;0.996;0.997	D;D;D;D	0.75484	0.913;0.978;0.986;0.978	T	0.55909	-0.8066	10	0.54805	T	0.06	.	8.7232	0.34454	0.0:0.7796:0.0:0.2204	.	304;903;1123;1124	B4DLR6;D6RIG4;Q9HCL0-2;Q9HCL0	.;.;.;PCD18_HUMAN	D	1124;1123;903;335;304	ENSP00000355082:E1124D;ENSP00000390688:E1123D;ENSP00000425903:E903D;ENSP00000424269:E335D;ENSP00000425647:E304D	ENSP00000355082:E1124D	E	-	3	2	PCDH18	138661669	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	0.737000	0.26144	1.153000	0.42468	-0.216000	0.12614	GAG		0.408	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		17	26	1	0	1.50039e-11	1	1.56686e-11	17	26				
FCGBP	8857	broad.mit.edu	37	19	40384065	40384065	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr19:40384065C>G	ENST00000221347.6	-	21	9552	c.9545G>C	c.(9544-9546)gGc>gCc	p.G3182A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3182	TIL 7.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CACACAGGGGCCCTCACATAC	0.647																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(9544-9546)gGc>gCc		Fc fragment of IgG binding protein							28.0	33.0	31.0					19																	40384065		1497	3178	4675	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40384065C>G	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.9545G>C	19.37:g.40384065C>G	ENSP00000221347:p.Gly3182Ala						p.G3182A	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		21	9552	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		3182			TIL 7.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.9545G>C	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	6.745	0.506292	0.12883	.	.	ENSG00000090920	ENST00000221347	T	0.80480	-1.38	3.27	3.27	0.37495	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	.	.	.	.	T	0.76300	0.3968	N	0.16233	0.39	0.09310	N	1	D	0.71674	0.998	D	0.73380	0.98	T	0.63391	-0.6648	9	0.10377	T	0.69	.	6.7831	0.23657	0.0:0.861:0.0:0.139	.	3182	Q9Y6R7	FCGBP_HUMAN	A	3182	ENSP00000221347:G3182A	ENSP00000221347:G3182A	G	-	2	0	FCGBP	45075905	0.001000	0.12720	0.017000	0.16124	0.010000	0.07245	1.004000	0.29822	1.540000	0.49301	0.400000	0.26472	GGC		0.647	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		35	125	0	0	0	1	0	35	125				
SRP14	6727	broad.mit.edu	37	15	40330554	40330554	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr15:40330554C>T	ENST00000267884.6	-	3	210	c.139G>A	c.(139-141)Gag>Aag	p.E47K	SRP14-AS1_ENST00000504245.1_lincRNA|SRP14_ENST00000558720.1_5'UTR|SRP14_ENST00000560773.1_5'UTR|SRP14_ENST00000559081.1_Missense_Mutation_p.E47K|SRP14_ENST00000558527.1_5'UTR	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN	signal recognition particle 14kDa (homologous Alu RNA binding protein)	47					cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intercellular bridge (GO:0045171)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)		TCAAAGCCCTCCACAGTACCC	0.502																																						ENST00000267884.6																			0				endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3						c.(139-141)Gag>Aag		signal recognition particle 14kDa (homologous Alu RNA binding protein)							109.0	106.0	107.0					15																	40330554		1914	4132	6046	SO:0001583	missense	6727				negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding	g.chr15:40330554C>T		CCDS42017.1	15q22	2008-08-15	2002-08-29		ENSG00000140319	ENSG00000140319			11299	protein-coding gene	gene with protein product		600708	"""signal recognition particle 14kD (homologous Alu RNA-binding protein)"""			8196634	Standard	NM_003134		Approved	ALURBP, MGC14326	uc001zkq.2	P37108		ENST00000267884.6:c.139G>A	15.37:g.40330554C>T	ENSP00000267884:p.Glu47Lys					SRP14_ENST00000558720.1_5'UTR|SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000559081.1_Missense_Mutation_p.E47K|SRP14_ENST00000560773.1_5'UTR	p.E47K	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)	3	210	-		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	47					B5BUF5|Q6B0K5|Q96Q14	Missense_Mutation	SNP	ENST00000267884.6	37	c.139G>A	CCDS42017.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.120647	0.56613	.	.	ENSG00000140319	ENST00000267884	T	0.29917	1.55	6.17	5.24	0.73138	Signal recognition particle, SRP9/SRP14 subunit (2);	0.090180	0.85682	D	0.000000	T	0.13114	0.0318	N	0.05031	-0.125	0.80722	D	1	P	0.40230	0.708	B	0.31812	0.136	T	0.10636	-1.0621	10	0.07990	T	0.79	.	15.7843	0.78291	0.1374:0.8626:0.0:0.0	.	47	P37108	SRP14_HUMAN	K	47	ENSP00000267884:E47K	ENSP00000267884:E47K	E	-	1	0	SRP14	38117846	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	7.468000	0.80943	1.583000	0.49898	0.655000	0.94253	GAG		0.502	SRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418262.2	NM_003134		8	42	0	0	0	1	0	8	42				
CRYGS	1427	broad.mit.edu	37	3	186256601	186256601	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr3:186256601C>T	ENST00000392499.2	-	4	760	c.421G>A	c.(421-423)Gag>Aag	p.E141K	CRYGS_ENST00000307944.5_Missense_Mutation_p.E141K	NM_017541.2	NP_060011.1	P22914	CRBS_HUMAN	crystallin, gamma S	141	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens development in camera-type eye (GO:0002088)|morphogenesis of an epithelium (GO:0002009)		structural constituent of eye lens (GO:0005212)			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	11	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)		TTGGGTAGCTCATAGAAAATC	0.537																																						ENST00000392499.2																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	11						c.(421-423)Gag>Aag		crystallin, gamma S							92.0	84.0	87.0					3																	186256601		2203	4300	6503	SO:0001583	missense	1427						structural constituent of eye lens	g.chr3:186256601C>T		CCDS3275.1	3q27.3	2013-02-14			ENSG00000213139	ENSG00000213139			2417	protein-coding gene	gene with protein product	"""crystallin, gamma 8"""	123730		CRYG8			Standard	NM_017541		Approved		uc003fqe.3	P22914	OTTHUMG00000156615	ENST00000392499.2:c.421G>A	3.37:g.186256601C>T	ENSP00000376287:p.Glu141Lys					CRYGS_ENST00000307944.5_Missense_Mutation_p.E141K	p.E141K	NM_017541.2	NP_060011.1	P22914	CRBS_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)	4	760	-	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		141			Beta/gamma crystallin 'Greek key' 4.		B2RAF8	Missense_Mutation	SNP	ENST00000392499.2	37	c.421G>A	CCDS3275.1	.	.	.	.	.	.	.	.	.	.	C	35	5.592080	0.96590	.	.	ENSG00000213139	ENST00000392499;ENST00000307944	T;T	0.79454	-1.27;-1.27	5.95	5.95	0.96441	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.000000	0.64402	U	0.000002	D	0.92718	0.7685	H	0.97214	3.96	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94630	0.7821	10	0.87932	D	0	.	17.8792	0.88835	0.0:1.0:0.0:0.0	.	141	P22914	CRBS_HUMAN	K	141	ENSP00000376287:E141K;ENSP00000312099:E141K	ENSP00000312099:E141K	E	-	1	0	CRYGS	187739295	1.000000	0.71417	0.982000	0.44146	0.991000	0.79684	7.755000	0.85180	2.825000	0.97269	0.655000	0.94253	GAG		0.537	CRYGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344784.1	NM_017541		10	37	0	0	0	1	0	10	37				
OSBP2	23762	broad.mit.edu	37	22	31266577	31266577	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr22:31266577G>A	ENST00000332585.6	+	3	1119	c.1015G>A	c.(1015-1017)Ggc>Agc	p.G339S	OSBP2_ENST00000403222.3_Missense_Mutation_p.G174S|OSBP2_ENST00000446658.2_Missense_Mutation_p.G339S|OSBP2_ENST00000407373.1_Missense_Mutation_p.G166S|OSBP2_ENST00000437268.2_Missense_Mutation_p.G81S|OSBP2_ENST00000401475.1_5'UTR|OSBP2_ENST00000382310.3_Missense_Mutation_p.G339S	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	339					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						AGAGCTGGACGGCCTCAAGAT	0.557																																						ENST00000332585.6																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						c.(1015-1017)Ggc>Agc		oxysterol binding protein 2							54.0	62.0	60.0					22																	31266577		2144	4234	6378	SO:0001583	missense	23762				lipid transport	membrane	lipid binding	g.chr22:31266577G>A		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.1015G>A	22.37:g.31266577G>A	ENSP00000332576:p.Gly339Ser					OSBP2_ENST00000407373.1_Missense_Mutation_p.G166S|OSBP2_ENST00000403222.3_Missense_Mutation_p.G174S|OSBP2_ENST00000446658.2_Missense_Mutation_p.G339S|OSBP2_ENST00000437268.2_Missense_Mutation_p.G81S|OSBP2_ENST00000401475.1_5'UTR|OSBP2_ENST00000382310.3_Missense_Mutation_p.G339S	p.G339S	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN			3	1119	+			339					B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Missense_Mutation	SNP	ENST00000332585.6	37	c.1015G>A	CCDS43002.1	.	.	.	.	.	.	.	.	.	.	G	7.238	0.600731	0.13939	.	.	ENSG00000184792	ENST00000403222;ENST00000407373;ENST00000332585;ENST00000382310;ENST00000446658;ENST00000437268	T;T;T;T;T;T	0.39406	1.08;1.08;1.6;1.6;1.6;1.09	4.51	-3.1	0.05315	.	0.637302	0.16168	N	0.226415	T	0.15392	0.0371	N	0.04203	-0.255	0.80722	D	1	B;B;B;B;B;B	0.13594	0.002;0.008;0.004;0.004;0.007;0.007	B;B;B;B;B;B	0.09377	0.004;0.003;0.003;0.003;0.003;0.003	T	0.42327	-0.9458	10	0.02654	T	1	-26.6666	12.8034	0.57598	0.8536:0.0:0.1464:0.0	.	81;339;174;166;339;339	F5H2A3;B4DFA8;B4DKE4;Q6ZN50;Q0VF99;Q969R2	.;.;.;.;.;OSBP2_HUMAN	S	174;166;339;339;339;81	ENSP00000384213:G174S;ENSP00000385237:G166S;ENSP00000332576:G339S;ENSP00000371747:G339S;ENSP00000392080:G339S;ENSP00000389200:G81S	ENSP00000332576:G339S	G	+	1	0	OSBP2	29596577	0.539000	0.26402	0.293000	0.24932	0.925000	0.55904	1.487000	0.35540	-0.429000	0.07329	0.563000	0.77884	GGC		0.557	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	NM_030758		5	43	0	0	0	1	0	5	43				
LIPE	3991	broad.mit.edu	37	19	42930446	42930446	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr19:42930446G>A	ENST00000244289.4	-	1	1132	c.856C>T	c.(856-858)Cgg>Tgg	p.R286W	LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|CTB-50E14.4_ENST00000596781.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593740.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	286					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				CTGTGATTCCGAGCACTGGTT	0.438																																						ENST00000244289.4																			0				breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(856-858)Cgg>Tgg		lipase, hormone-sensitive							158.0	151.0	154.0					19																	42930446		2203	4300	6503	SO:0001583	missense	3991				cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	g.chr19:42930446G>A	L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.856C>T	19.37:g.42930446G>A	ENSP00000244289:p.Arg286Trp					LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	p.R286W	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN			1	1132	-		Prostate(69;0.00682)	286					Q3LRT2|Q6NSL7	Missense_Mutation	SNP	ENST00000244289.4	37	c.856C>T	CCDS12607.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.721467	0.30503	.	.	ENSG00000079435	ENST00000244289	T	0.03468	3.92	3.37	1.14	0.20703	.	1.614490	0.03967	N	0.291062	T	0.02012	0.0063	N	0.08118	0	0.09310	N	1	P	0.44260	0.83	B	0.26969	0.075	T	0.45731	-0.9241	10	0.87932	D	0	-7.5667	8.0878	0.30782	0.0:0.0:0.5594:0.4406	.	286	Q05469	LIPS_HUMAN	W	286	ENSP00000244289:R286W	ENSP00000244289:R286W	R	-	1	2	LIPE	47622286	0.007000	0.16637	0.056000	0.19401	0.099000	0.18886	0.950000	0.29122	0.382000	0.24878	-0.181000	0.13052	CGG		0.438	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		4	187	0	0	0	1	0	4	187				
CYP11A1	1583	broad.mit.edu	37	15	74637401	74637401	+	Silent	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr15:74637401G>A	ENST00000268053.6	-	3	763	c.609C>T	c.(607-609)ttC>ttT	p.F203F	CYP11A1_ENST00000358632.4_Silent_p.F45F|CYP11A1_ENST00000541301.1_Intron|CYP11A1_ENST00000419019.2_Silent_p.F45F	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	203					biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	AGGCAAAGCGGAACAGGTCAT	0.567																																					Esophageal Squamous(87;818 1337 4093 9268 37314)	ENST00000358632.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(133-135)ttC>ttT		cytochrome P450, family 11, subfamily A, polypeptide 1	Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)						89.0	83.0	85.0					15																	74637401		2197	4296	6493	SO:0001819	synonymous_variant	1583				C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding	g.chr15:74637401G>A	AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"""Cytochrome P450s"""	2590	protein-coding gene	gene with protein product	"""cholesterol monooxygenase (side-chain-cleaving)"""	118485	"""cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"""	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.609C>T	15.37:g.74637401G>A						CYP11A1_ENST00000419019.2_Silent_p.F45F|CYP11A1_ENST00000268053.6_Silent_p.F203F|CYP11A1_ENST00000541301.1_Intron	p.F45F	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN			3	830	-			203					A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Silent	SNP	ENST00000268053.6	37	c.135C>T	CCDS32291.1																																																																																				0.567	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1			16	38	0	0	0	1	0	16	38				
TAF1	6872	broad.mit.edu	37	X	70617222	70617222	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chrX:70617222G>C	ENST00000373790.4	+	23	3574	c.3523G>C	c.(3523-3525)Gag>Cag	p.E1175Q	TAF1_ENST00000449580.1_Missense_Mutation_p.E1175Q|TAF1_ENST00000423759.1_Missense_Mutation_p.E1196Q|TAF1_ENST00000276072.3_Missense_Mutation_p.E1196Q	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1175					cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|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)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TCGAGATGAAGAGGGGAAAGA	0.468																																						ENST00000449580.1																			0				breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.(3523-3525)Gag>Cag		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa							186.0	132.0	150.0					X																	70617222		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70617222G>C		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.3523G>C	X.37:g.70617222G>C	ENSP00000362895:p.Glu1175Gln					TAF1_ENST00000276072.3_Missense_Mutation_p.E1196Q|TAF1_ENST00000373790.4_Missense_Mutation_p.E1175Q|TAF1_ENST00000423759.1_Missense_Mutation_p.E1196Q	p.E1175Q			P21675	TAF1_HUMAN			23	3574	+	Renal(35;0.156)	all_lung(315;0.000321)	1175					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.3523G>C	CCDS35325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	19.12|19.12	3.766782|3.766782	0.69878|0.69878	.|.	.|.	ENSG00000147133|ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072|ENST00000483985	T;T;T;T|.	0.17691|.	2.26;2.26;2.26;2.26|.	4.91|4.91	4.91|4.91	0.64330|0.64330	.|.	0.162180|.	0.56097|.	D|.	0.000028|.	T|T	0.56746|0.56746	0.2006|0.2006	L|L	0.29908|0.29908	0.895|0.895	0.58432|0.58432	D|D	0.999991|0.999991	B;B;B|.	0.30146|.	0.27;0.078;0.127|.	B;B;B|.	0.37015|.	0.239;0.094;0.192|.	T|T	0.53085|0.53085	-0.8488|-0.8488	10|5	0.66056|.	D|.	0.02|.	.|.	17.5217|17.5217	0.87789|0.87789	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1175;1175;1196|.	P21675-4;P21675;P21675-2|.	.;TAF1_HUMAN;.|.	Q|N	1175;1175;1196;1196|85	ENSP00000362895:E1175Q;ENSP00000389000:E1175Q;ENSP00000406549:E1196Q;ENSP00000276072:E1196Q|.	ENSP00000276072:E1196Q|.	E|K	+|+	1|3	0|2	TAF1|TAF1	70533947|70533947	1.000000|1.000000	0.71417|0.71417	0.984000|0.984000	0.44739|0.44739	0.993000|0.993000	0.82548|0.82548	9.198000|9.198000	0.94994|0.94994	2.322000|2.322000	0.78497|0.78497	0.449000|0.449000	0.29647|0.29647	GAG|AAG		0.468	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		18	47	0	0	0	1	0	18	47				
KRTAP4-2	85291	broad.mit.edu	37	17	39334307	39334307	+	Missense_Mutation	SNP	C	C	T	rs374053955		TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr17:39334307C>T	ENST00000377726.2	-	1	153	c.110G>A	c.(109-111)cGc>cAc	p.R37H		NM_033062.3	NP_149051	Q9BYR5	KRA42_HUMAN	keratin associated protein 4-2	37	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament (GO:0045095)				kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GCAGCTGGGGCGGCAGCAGGT	0.657													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18618	0.0		0.0	False		,,,				2504	0.0					ENST00000377726.2																			0				kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7						c.(109-111)cGc>cAc		keratin associated protein 4-2		C	HIS/ARG	3,4395		0,3,2196	43.0	48.0	46.0		110	-1.7	0.5	17		46	0,8576		0,0,4288	no	missense	KRTAP4-2	NM_033062.3	29	0,3,6484	TT,TC,CC		0.0,0.0682,0.0231	benign	37/137	39334307	3,12971	2199	4288	6487	SO:0001583	missense	85291					keratin filament		g.chr17:39334307C>T	AJ406934	CCDS11384.1	17q21.2	2013-06-25			ENSG00000244537	ENSG00000244537		"""Keratin associated proteins"""	18900	protein-coding gene	gene with protein product						11279113	Standard	NM_033062		Approved	KAP4.2	uc002hwd.3	Q9BYR5	OTTHUMG00000133437	ENST00000377726.2:c.110G>A	17.37:g.39334307C>T	ENSP00000366955:p.Arg37His						p.R37H	NM_033062.3	NP_149051.1	Q9BYR5	KRA42_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	153	-		Breast(137;0.000496)	37			20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].		A0JP64	Missense_Mutation	SNP	ENST00000377726.2	37	c.110G>A	CCDS11384.1	.	.	.	.	.	.	.	.	.	.	.	9.749	1.166893	0.21621	6.82E-4	0.0	ENSG00000244537	ENST00000377726;ENST00000458321	T	0.01430	4.9	4.27	-1.71	0.08133	.	1.979650	0.04141	U	0.319522	T	0.03739	0.0106	M	0.91510	3.215	0.09310	N	1	B	0.24675	0.109	B	0.18561	0.022	T	0.45760	-0.9239	10	0.66056	D	0.02	.	4.1618	0.10287	0.1673:0.4486:0.0:0.3841	.	37	Q9BYR5	KRA42_HUMAN	H	37;154	ENSP00000366955:R37H	ENSP00000366955:R37H	R	-	2	0	KRTAP4-2	36587833	0.000000	0.05858	0.452000	0.26994	0.087000	0.18053	-0.410000	0.07151	-0.242000	0.09667	-0.351000	0.07748	CGC		0.657	KRTAP4-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257305.1			54	81	0	0	0	1	0	54	81				
DST	667	broad.mit.edu	37	6	56505363	56505363	+	Nonsense_Mutation	SNP	C	C	A	rs561366949	byFrequency	TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr6:56505363C>A	ENST00000361203.3	-	14	1442	c.1435G>T	c.(1435-1437)Gaa>Taa	p.E479*	DST_ENST00000518935.1_Nonsense_Mutation_p.E153*|DST_ENST00000244364.6_Nonsense_Mutation_p.E153*|DST_ENST00000370788.2_Nonsense_Mutation_p.E479*|DST_ENST00000370754.5_Nonsense_Mutation_p.E657*|DST_ENST00000421834.2_Nonsense_Mutation_p.E479*|DST_ENST00000370765.6_Nonsense_Mutation_p.E153*|DST_ENST00000312431.6_Nonsense_Mutation_p.E479*|DST_ENST00000446842.2_Nonsense_Mutation_p.E153*|DST_ENST00000370769.4_Nonsense_Mutation_p.E479*			Q03001	DYST_HUMAN	dystonin	479					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GAAGAACATTCGTTCCTTAAG	0.388																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(1969-1971)Gaa>Taa		dystonin							95.0	93.0	94.0					6																	56505363		2203	4300	6503	SO:0001587	stop_gained	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56505363C>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.1435G>T	6.37:g.56505363C>A	ENSP00000354508:p.Glu479*					DST_ENST00000370788.2_Nonsense_Mutation_p.E479*|DST_ENST00000446842.2_Nonsense_Mutation_p.E153*|DST_ENST00000361203.3_Nonsense_Mutation_p.E479*|DST_ENST00000312431.6_Nonsense_Mutation_p.E479*|DST_ENST00000518935.1_Nonsense_Mutation_p.E153*|DST_ENST00000370765.6_Nonsense_Mutation_p.E153*|DST_ENST00000421834.2_Nonsense_Mutation_p.E479*|DST_ENST00000370769.4_Nonsense_Mutation_p.E479*|DST_ENST00000244364.6_Nonsense_Mutation_p.E153*	p.E657*			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		17	1968	-	Lung NSC(77;0.103)		479					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Nonsense_Mutation	SNP	ENST00000361203.3	37	c.1969G>T		.	.	.	.	.	.	.	.	.	.	C	16.63	3.176850	0.57692	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935;ENST00000449297	.	.	.	5.65	4.75	0.60458	.	0.106321	0.41294	D	0.000918	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	13.878	0.63665	0.0:0.9248:0.0:0.0752	.	.	.	.	X	153;657;479;479;153;479;479;479;153;519;153;153;657	.	ENSP00000244364:E153X	E	-	1	0	DST	56613322	1.000000	0.71417	0.986000	0.45419	0.569000	0.35902	4.553000	0.60753	1.561000	0.49584	0.655000	0.94253	GAA		0.388	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		44	49	1	0	3.86361e-14	1	4.06048e-14	44	49				
TMEM132A	54972	broad.mit.edu	37	11	60699312	60699312	+	Silent	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr11:60699312C>T	ENST00000453848.2	+	6	1326	c.1168C>T	c.(1168-1170)Ctg>Ttg	p.L390L	TMEM132A_ENST00000005286.4_Silent_p.L391L			Q24JP5	T132A_HUMAN	transmembrane protein 132A	390						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GTGGGAAATCCTGGTGTCTGA	0.627																																						ENST00000005286.4																			0				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						c.(1171-1173)Ctg>Ttg		transmembrane protein 132A							97.0	98.0	98.0					11																	60699312		2203	4299	6502	SO:0001819	synonymous_variant	54972					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:60699312C>T	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.1168C>T	11.37:g.60699312C>T						TMEM132A_ENST00000453848.2_Silent_p.L390L	p.L391L	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN			6	1324	+			390					Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Silent	SNP	ENST00000453848.2	37	c.1171C>T	CCDS44618.1	.	.	.	.	.	.	.	.	.	.	C	6.870	0.529970	0.13127	.	.	ENSG00000006118	ENST00000536409	.	.	.	4.61	4.61	0.57282	.	.	.	.	.	T	0.73321	0.3572	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73487	-0.3967	4	.	.	.	.	17.4561	0.87607	0.0:1.0:0.0:0.0	.	.	.	.	L	29	.	.	P	+	2	0	TMEM132A	60455888	0.897000	0.30589	1.000000	0.80357	0.692000	0.40212	0.777000	0.26718	2.290000	0.77057	0.455000	0.32223	CCT		0.627	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870		23	110	0	0	0	1	0	23	110				
TATDN1	83940	broad.mit.edu	37	8	125516547	125516547	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr8:125516547C>G	ENST00000276692.6	-	9	595	c.558G>C	c.(556-558)ttG>ttC	p.L186F	TATDN1_ENST00000519548.1_Missense_Mutation_p.L139F|TATDN1_ENST00000605953.1_Missense_Mutation_p.L186F|TATDN1_ENST00000517678.1_Missense_Mutation_p.L132F|TATDN1_ENST00000521546.1_5'UTR	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1	186					DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CCAAGTCAATCAAAGCAGCTG	0.318																																						ENST00000276692.6																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15						c.(556-558)ttG>ttC		TatD DNase domain containing 1							89.0	89.0	89.0					8																	125516547		2203	4299	6502	SO:0001583	missense	83940					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr8:125516547C>G	AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068	ENST00000276692.6:c.558G>C	8.37:g.125516547C>G	ENSP00000276692:p.Leu186Phe					TATDN1_ENST00000605953.1_Missense_Mutation_p.L186F|TATDN1_ENST00000521546.1_5'UTR|TATDN1_ENST00000517678.1_Missense_Mutation_p.L132F|TATDN1_ENST00000519548.1_Missense_Mutation_p.L139F	p.L186F	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		9	595	-	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		186					B2R5J0|Q8TD02|Q9BY40	Missense_Mutation	SNP	ENST00000276692.6	37	c.558G>C	CCDS6351.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.262006	0.39995	.	.	ENSG00000147687	ENST00000276692;ENST00000519548;ENST00000522810;ENST00000517678	.	.	.	5.7	-0.252	0.12999	.	0.274240	0.33075	N	0.005317	T	0.47002	0.1422	L	0.35542	1.07	0.39460	D	0.967543	B;B	0.26902	0.163;0.113	B;B	0.40477	0.33;0.15	T	0.34354	-0.9832	9	0.48119	T	0.1	-11.2131	5.3521	0.16042	0.0:0.2169:0.4577:0.3254	.	186;186	E5RG17;Q6P1N9	.;TATD1_HUMAN	F	186;139;186;132	.	ENSP00000276692:L186F	L	-	3	2	TATDN1	125585728	0.994000	0.37717	0.977000	0.42913	0.898000	0.52572	0.228000	0.17814	0.027000	0.15297	0.655000	0.94253	TTG		0.318	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381655.1	NM_032026		16	87	0	0	0	1	0	16	87				
EP300	2033	broad.mit.edu	37	22	41525914	41525914	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr22:41525914C>T	ENST00000263253.7	+	5	2408	c.1189C>T	c.(1189-1191)Cga>Tga	p.R397*		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	397					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TGCATCTTCTCGACAAATCAT	0.363			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(1189-1191)Cga>Tga		E1A binding protein p300							115.0	104.0	108.0					22																	41525914		2203	4300	6503	SO:0001587	stop_gained	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41525914C>T	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.1189C>T	22.37:g.41525914C>T	ENSP00000263253:p.Arg397*						p.R397*	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			5	2408	+			397					B1AKC2	Nonsense_Mutation	SNP	ENST00000263253.7	37	c.1189C>T	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	48	14.751709	0.99808	.	.	ENSG00000100393	ENST00000263253	.	.	.	5.61	3.37	0.38596	.	0.000000	0.39146	N	0.001460	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.6509	15.3151	0.74069	0.253:0.747:0.0:0.0	.	.	.	.	X	397	.	ENSP00000263253:R397X	R	+	1	2	EP300	39855860	0.995000	0.38212	1.000000	0.80357	0.998000	0.95712	1.299000	0.33424	1.474000	0.48178	0.655000	0.94253	CGA		0.363	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		21	28	0	0	0	1	0	21	28				
ZNF45	7596	broad.mit.edu	37	19	44417669	44417669	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr19:44417669T>C	ENST00000269973.5	-	10	3009	c.1919A>G	c.(1918-1920)tAc>tGc	p.Y640C	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Missense_Mutation_p.Y640C	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	640					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						CTCACATTTGTATGGTTTTTC	0.468																																						ENST00000269973.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						c.(1918-1920)tAc>tGc		zinc finger protein 45							115.0	102.0	106.0					19																	44417669		2203	4300	6503	SO:0001583	missense	7596				multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:44417669T>C	M67509	CCDS12632.1	19q13.2	2013-01-08	2005-01-11			ENSG00000124459		"""Zinc fingers, C2H2-type"", ""-"""	13111	protein-coding gene	gene with protein product		194554	"""zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide)"", ""zinc finger protein 13"""	ZNF13		9067431	Standard	NM_003425		Approved		uc002oxw.2	Q02386		ENST00000269973.5:c.1919A>G	19.37:g.44417669T>C	ENSP00000269973:p.Tyr640Cys					RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Missense_Mutation_p.Y640C	p.Y640C	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN			10	3009	-			640					P17016|P78472|Q9P1U9	Missense_Mutation	SNP	ENST00000269973.5	37	c.1919A>G	CCDS12632.1	.	.	.	.	.	.	.	.	.	.	T	13.20	2.165394	0.38217	.	.	ENSG00000124459	ENST00000269973	T	0.25414	1.8	3.59	2.55	0.30701	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.31660	N	0.007278	T	0.44201	0.1282	M	0.70787	2.145	0.09310	N	1	D	0.89917	1.0	D	0.76071	0.987	T	0.18903	-1.0322	10	0.87932	D	0	-12.9309	7.1298	0.25493	0.5114:0.0:0.0:0.4886	.	640	Q02386	ZNF45_HUMAN	C	640	ENSP00000269973:Y640C	ENSP00000269973:Y640C	Y	-	2	0	ZNF45	49109509	0.018000	0.18449	0.954000	0.39281	0.995000	0.86356	0.392000	0.20801	0.544000	0.28883	0.374000	0.22700	TAC		0.468	ZNF45-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459919.1	NM_003425		12	111	0	0	0	1	0	12	111				
RAB11FIP2	22841	broad.mit.edu	37	10	119798775	119798775	+	Missense_Mutation	SNP	A	A	C			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr10:119798775A>C	ENST00000355624.3	-	3	1412	c.973T>G	c.(973-975)Ttt>Gtt	p.F325V	RP11-354M20.3_ENST00000451610.2_RNA|RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.F325V|RP11-354M20.3_ENST00000417968.4_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	325					establishment of cell polarity (GO:0030010)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		CTTTCTTCAAATGGATTTTTC	0.348																																						ENST00000355624.3																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19						c.(973-975)Ttt>Gtt		RAB11 family interacting protein 2 (class I)							113.0	112.0	112.0					10																	119798775		2202	4299	6501	SO:0001583	missense	22841				protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity	g.chr10:119798775A>C	AY037299	CCDS7602.1	10q26.12	2004-07-22			ENSG00000107560	ENSG00000107560			29152	protein-coding gene	gene with protein product		608599				11994279, 10231032	Standard	NM_014904		Approved	KIAA0941, nRip11, Rab11-FIP2	uc001ldj.2	Q7L804	OTTHUMG00000019128	ENST00000355624.3:c.973T>G	10.37:g.119798775A>C	ENSP00000347839:p.Phe325Val					RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.F325V|RP11-354M20.3_ENST00000451610.2_RNA	p.F325V	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN		all cancers(201;0.0238)	3	1412	-		Colorectal(252;0.235)	325					A6NEI4|Q3I768|Q9Y2F0	Missense_Mutation	SNP	ENST00000355624.3	37	c.973T>G	CCDS7602.1	.	.	.	.	.	.	.	.	.	.	A	19.64	3.865165	0.71949	.	.	ENSG00000107560	ENST00000355624;ENST00000369199	T;T	0.72051	-0.59;-0.62	5.76	5.76	0.90799	.	0.211151	0.52532	D	0.000077	T	0.64616	0.2614	L	0.53249	1.67	0.58432	D	0.999999	P;B	0.36412	0.552;0.307	B;B	0.33454	0.164;0.083	T	0.62530	-0.6835	10	0.17369	T	0.5	-16.142	16.3786	0.83431	1.0:0.0:0.0:0.0	.	325;325	Q3I768;Q7L804	.;RFIP2_HUMAN	V	325	ENSP00000347839:F325V;ENSP00000358200:F325V	ENSP00000347839:F325V	F	-	1	0	RAB11FIP2	119788765	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.077000	0.89505	2.323000	0.78572	0.528000	0.53228	TTT		0.348	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050583.1	NM_014904		5	58	0	0	0	1	0	5	58				
SEC16A	9919	broad.mit.edu	37	9	139369942	139369942	+	Nonsense_Mutation	SNP	G	G	C			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr9:139369942G>C	ENST00000371706.3	-	1	1625	c.1592C>G	c.(1591-1593)tCa>tGa	p.S531*	SEC16A_ENST00000431893.2_Nonsense_Mutation_p.S531*|SEC16A_ENST00000290037.6_Nonsense_Mutation_p.S531*|SEC16A_ENST00000313050.7_Nonsense_Mutation_p.S709*			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	531					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GGTCCTGGCTGAAGGCCTCTT	0.617																																						ENST00000313050.7																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2125-2127)tCa>tGa		SEC16 homolog A (S. cerevisiae)							29.0	33.0	32.0					9																	139369942		1978	4165	6143	SO:0001587	stop_gained	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139369942G>C	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.1592C>G	9.37:g.139369942G>C	ENSP00000360771:p.Ser531*					SEC16A_ENST00000290037.6_Nonsense_Mutation_p.S531*|SEC16A_ENST00000431893.2_Nonsense_Mutation_p.S531*|SEC16A_ENST00000371706.3_Nonsense_Mutation_p.S531*	p.S709*	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	1	2199	-		Myeloproliferative disorder(178;0.0511)	531					A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Nonsense_Mutation	SNP	ENST00000371706.3	37	c.2126C>G		.	.	.	.	.	.	.	.	.	.	G	17.68	3.448492	0.63178	.	.	ENSG00000148396	ENST00000313050;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925	.	.	.	5.39	-1.15	0.09709	.	0.574522	0.18518	N	0.138854	.	.	.	.	.	.	0.24211	N	0.995472	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	5.0E-4	10.7157	0.46011	0.3511:0.0:0.6489:0.0	.	.	.	.	X	709;531;531;531;336	.	ENSP00000290037:S531X	S	-	2	0	SEC16A	138489763	0.102000	0.21896	0.000000	0.03702	0.002000	0.02628	1.323000	0.33701	-0.422000	0.07405	-0.127000	0.14921	TCA		0.617	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		3	33	0	0	0	1	0	3	33				
EHMT2	10919	broad.mit.edu	37	6	31864575	31864575	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr6:31864575G>A	ENST00000375537.4	-	3	142	c.136C>T	c.(136-138)Cgt>Tgt	p.R46C	EHMT2_ENST00000480912.1_5'Flank|C2_ENST00000469372.1_5'Flank|EHMT2_ENST00000395728.3_Missense_Mutation_p.R103C|EHMT2_ENST00000375528.4_Missense_Mutation_p.R103C|EHMT2_ENST00000375530.4_Missense_Mutation_p.R46C	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	46					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						TCTTCACTACGAGGGGTGTCC	0.567																																						ENST00000395728.3																			0				central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						c.(307-309)Cgt>Tgt		euchromatic histone-lysine N-methyltransferase 2							71.0	77.0	75.0					6																	31864575		1511	2709	4220	SO:0001583	missense	10919				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr6:31864575G>A	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.136C>T	6.37:g.31864575G>A	ENSP00000364687:p.Arg46Cys					EHMT2_ENST00000375530.4_Missense_Mutation_p.R46C|EHMT2_ENST00000375528.4_Missense_Mutation_p.R103C|EHMT2_ENST00000375537.4_Missense_Mutation_p.R46C	p.R103C			Q96KQ7	EHMT2_HUMAN			2	306	-			46					B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	ENST00000375537.4	37	c.307C>T	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.275710	0.23307	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537	T;T;T;T	0.34667	1.35;1.35;1.35;1.35	2.99	2.02	0.26589	.	0.752666	0.11064	N	0.603608	T	0.10380	0.0254	N	0.08118	0	0.32718	N	0.510746	B;D;B;B	0.67145	0.0;0.996;0.0;0.0	B;P;B;B	0.47573	0.0;0.55;0.0;0.0	T	0.05115	-1.0905	10	0.59425	D	0.04	.	5.3893	0.16236	0.1793:0.0:0.8207:0.0	.	103;46;46;46	A2ABF8;Q96KQ7-3;Q96KQ7-2;Q96KQ7	.;.;.;EHMT2_HUMAN	C	103;103;46;46	ENSP00000379078:R103C;ENSP00000364678:R103C;ENSP00000364680:R46C;ENSP00000364687:R46C	ENSP00000364678:R103C	R	-	1	0	EHMT2	31972554	0.863000	0.29885	0.972000	0.41901	0.413000	0.31143	1.552000	0.36244	0.734000	0.32515	-0.367000	0.07326	CGT		0.567	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		19	107	0	0	0	1	0	19	107				
FASN	2194	broad.mit.edu	37	17	80045999	80045999	+	Silent	SNP	G	G	C	rs369562322		TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr17:80045999G>C	ENST00000306749.2	-	17	2996	c.2778C>G	c.(2776-2778)ccC>ccG	p.P926P		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	926					acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CACCAGTCTTGGGCAGGATGG	0.672																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.(2776-2778)ccC>ccG		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	G		0,4404		0,0,2202	43.0	50.0	48.0		2778	1.6	1.0	17		48	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	FASN	NM_004104.4		0,1,6499	CC,CG,GG		0.0116,0.0,0.0077		926/2512	80045999	1,12999	2202	4298	6500	SO:0001819	synonymous_variant	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80045999G>C	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.2778C>G	17.37:g.80045999G>C							p.P926P	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		17	2996	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		926					Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	ENST00000306749.2	37	c.2778C>G	CCDS11801.1																																																																																				0.672	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		17	95	0	0	0	1	0	17	95				
RPS6KA6	27330	broad.mit.edu	37	X	83390119	83390119	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chrX:83390119G>A	ENST00000262752.2	-	7	608	c.601C>T	c.(601-603)Cca>Tca	p.P201S	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.P201S	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	201	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TACTTTTCTGGCTTCAGGTCT	0.363																																						ENST00000262752.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						c.(601-603)Cca>Tca		ribosomal protein S6 kinase, 90kDa, polypeptide 6							49.0	44.0	46.0					X																	83390119		2203	4297	6500	SO:0001583	missense	27330				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:83390119G>A	AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.601C>T	X.37:g.83390119G>A	ENSP00000262752:p.Pro201Ser					RPS6KA6_ENST00000543399.1_Missense_Mutation_p.P201S	p.P201S	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN			7	608	-			201			Protein kinase 1.		B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	ENST00000262752.2	37	c.601C>T	CCDS14451.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.275105	0.80580	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.40756	1.02;1.02	4.82	4.82	0.62117	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	0.68174	0.2972	M	0.85462	2.755	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74023	0.982;0.982	T	0.73525	-0.3955	10	0.49607	T	0.09	.	17.1226	0.86705	0.0:0.0:1.0:0.0	.	201;201	B7ZL90;Q9UK32	.;KS6A6_HUMAN	S	201	ENSP00000262752:P201S;ENSP00000440830:P201S	ENSP00000262752:P201S	P	-	1	0	RPS6KA6	83276775	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.642000	0.98461	1.963000	0.57068	0.538000	0.68166	CCA		0.363	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496		3	5	0	0	0	1	0	3	5				
CEP78	84131	broad.mit.edu	37	9	80879159	80879159	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr9:80879159G>C	ENST00000424347.2	+	13	1841	c.1552G>C	c.(1552-1554)Gaa>Caa	p.E518Q	CEP78_ENST00000376598.2_Missense_Mutation_p.E518Q|CEP78_ENST00000376597.4_Missense_Mutation_p.E519Q|CEP78_ENST00000277082.5_Missense_Mutation_p.E518Q|CEP78_ENST00000415759.2_Missense_Mutation_p.E519Q			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	518					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						CCTGGATGATGAAGGTGTTTT	0.373																																						ENST00000424347.2																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						c.(1552-1554)Gaa>Caa		centrosomal protein 78kDa							114.0	108.0	110.0					9																	80879159		1854	4094	5948	SO:0001583	missense	84131				G2/M transition of mitotic cell cycle	centrosome|cytosol		g.chr9:80879159G>C	BC058931	CCDS47984.1, CCDS47985.1	9q21.2	2014-02-20	2005-12-01	2005-12-01	ENSG00000148019	ENSG00000148019			25740	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 81"""	C9orf81		14654843	Standard	NM_001098802		Approved	FLJ12643	uc004aky.4	Q5JTW2	OTTHUMG00000020062	ENST00000424347.2:c.1552G>C	9.37:g.80879159G>C	ENSP00000411284:p.Glu518Gln					CEP78_ENST00000277082.5_Missense_Mutation_p.E518Q|CEP78_ENST00000376597.4_Missense_Mutation_p.E519Q|CEP78_ENST00000415759.2_Missense_Mutation_p.E519Q|CEP78_ENST00000376598.2_Missense_Mutation_p.E518Q	p.E518Q			Q5JTW2	CEP78_HUMAN			13	1841	+			518					A1A4S8|E9PHX5|Q5BJE3|Q5JTW0|Q5JTW1|Q9H9N3	Missense_Mutation	SNP	ENST00000424347.2	37	c.1552G>C		.	.	.	.	.	.	.	.	.	.	G	26.7	4.767043	0.90020	.	.	ENSG00000148019	ENST00000424347;ENST00000415085;ENST00000415759;ENST00000376597;ENST00000277082;ENST00000376598	T;T;T;T;T	0.47528	0.88;1.05;0.84;0.86;0.86	5.62	5.62	0.85841	.	0.050626	0.85682	D	0.000000	T	0.70011	0.3175	M	0.75264	2.295	0.50313	D	0.999864	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.72338	0.949;0.977;0.929	T	0.72534	-0.4264	10	0.72032	D	0.01	-18.6852	18.6513	0.91431	0.0:0.0:1.0:0.0	.	519;519;518	E9PHX5;Q5JTW2-2;Q5JTW2	.;.;CEP78_HUMAN	Q	518;518;519;519;518;518	ENSP00000411284:E518Q;ENSP00000399286:E519Q;ENSP00000365782:E519Q;ENSP00000277082:E518Q;ENSP00000365783:E518Q	ENSP00000277082:E518Q	E	+	1	0	CEP78	80068979	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.590000	0.90821	2.625000	0.88918	0.655000	0.94253	GAA		0.373	CEP78-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000052766.2	XM_095991		5	41	0	0	0	1	0	5	41				
PARD6G	84552	broad.mit.edu	37	18	77917940	77917940	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr18:77917940G>A	ENST00000353265.3	-	3	1042	c.845C>T	c.(844-846)cCg>cTg	p.P282L	AC139100.2_ENST00000589574.1_Intron|AC139100.2_ENST00000585422.1_Intron|AC139100.2_ENST00000586421.1_Intron|AC139100.2_ENST00000587254.1_Intron	NM_032510.3	NP_115899.1	Q9BYG4	PAR6G_HUMAN	par-6 family cell polarity regulator gamma	282					cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		CAGGACGCGCGGGGCGGGGGG	0.731																																						ENST00000353265.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(844-846)cCg>cTg		par-6 family cell polarity regulator gamma							13.0	15.0	14.0					18																	77917940		2164	4215	6379	SO:0001583	missense	84552				cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding	g.chr18:77917940G>A		CCDS12022.1	18q23	2013-08-28	2013-08-28		ENSG00000178184	ENSG00000178184			16076	protein-coding gene	gene with protein product		608976	"""par-6 (partitioning defective 6, C.elegans) homolog gamma"", ""par-6 partitioning defective 6 homolog gamma (C. elegans)"""			11260256	Standard	NM_032510		Approved	PAR-6G, PAR6gamma	uc002lny.3	Q9BYG4	OTTHUMG00000132922	ENST00000353265.3:c.845C>T	18.37:g.77917940G>A	ENSP00000343144:p.Pro282Leu					AC139100.2_ENST00000587254.1_Intron|AC139100.2_ENST00000586421.1_Intron|AC139100.2_ENST00000589574.1_Intron|AC139100.2_ENST00000585422.1_Intron	p.P282L	NM_032510.3	NP_115899.1	Q9BYG4	PAR6G_HUMAN		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)	3	1042	-		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)	282					A8QM57	Missense_Mutation	SNP	ENST00000353265.3	37	c.845C>T	CCDS12022.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.475640	0.44044	.	.	ENSG00000178184	ENST00000353265	T	0.11930	2.73	4.81	4.81	0.61882	.	0.406139	0.27043	N	0.021216	T	0.12220	0.0297	L	0.38175	1.15	0.80722	D	1	B	0.28291	0.206	B	0.21917	0.037	T	0.10965	-1.0607	9	.	.	.	-19.8443	16.8098	0.85716	0.0:0.0:1.0:0.0	.	282	Q9BYG4	PAR6G_HUMAN	L	282	ENSP00000343144:P282L	.	P	-	2	0	PARD6G	76018931	0.733000	0.28132	0.007000	0.13788	0.223000	0.24884	2.122000	0.41987	2.494000	0.84150	0.557000	0.71058	CCG		0.731	PARD6G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256435.2	NM_032510		3	15	0	0	0	1	0	3	15				
OR52M1	119772	broad.mit.edu	37	11	4567367	4567367	+	Missense_Mutation	SNP	T	T	A	rs148181600	byFrequency	TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr11:4567367T>A	ENST00000360213.1	+	1	947	c.947T>A	c.(946-948)aTt>aAt	p.I316N		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	316						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAAATGAAGATTAGATGATTA	0.403																																						ENST00000360213.1																			0				endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(946-948)aTt>aAt		olfactory receptor, family 52, subfamily M, member 1							57.0	54.0	55.0					11																	4567367		2201	4298	6499	SO:0001583	missense	119772				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4567367T>A	AB065789	CCDS31353.1	11p15.4	2012-08-09	2002-11-13	2002-11-15	ENSG00000197790	ENSG00000197790		"""GPCR / Class A : Olfactory receptors"""	15225	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily M, member 1 pseudogene"""	OR52M1P			Standard	NM_001004137		Approved		uc010qyf.2	Q8NGK5	OTTHUMG00000165706	ENST00000360213.1:c.947T>A	11.37:g.4567367T>A	ENSP00000353343:p.Ile316Asn						p.I316N	NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	947	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	316						Missense_Mutation	SNP	ENST00000360213.1	37	c.947T>A	CCDS31353.1	.	.	.	.	.	.	.	.	.	.	T	9.798	1.179732	0.21787	.	.	ENSG00000197790	ENST00000360213	T	0.01203	5.18	4.82	-1.63	0.08345	.	0.921032	0.09022	N	0.859990	T	0.00666	0.0022	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46857	-0.9161	10	0.26408	T	0.33	.	2.6612	0.05027	0.1409:0.0894:0.4038:0.3659	.	316	Q8NGK5	O52M1_HUMAN	N	316	ENSP00000353343:I316N	ENSP00000353343:I316N	I	+	2	0	OR52M1	4523943	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-0.903000	0.04084	-0.217000	0.10033	0.533000	0.62120	ATT		0.403	OR52M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385847.1	NM_001004137		7	24	0	0	0	1	0	7	24				
CALHM2	51063	broad.mit.edu	37	10	105207066	105207066	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr10:105207066G>A	ENST00000260743.5	-	4	1338	c.815C>T	c.(814-816)aCg>aTg	p.T272M	RP11-225H22.7_ENST00000608063.1_RNA|CALHM2_ENST00000369788.3_Missense_Mutation_p.T272M|CALHM2_ENST00000494180.1_5'Flank	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	272					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						CCGTGGCTGCGTGCCTTCCAC	0.597																																						ENST00000260743.5																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						c.(814-816)aCg>aTg		calcium homeostasis modulator 2							104.0	88.0	94.0					10																	105207066		2203	4300	6503	SO:0001583	missense	51063					integral to membrane		g.chr10:105207066G>A	BC000039	CCDS7549.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000138172	ENSG00000138172			23493	protein-coding gene	gene with protein product		612235	"""family with sequence similarity 26, member B"""	FAM26B		18585350	Standard	NM_015916		Approved		uc001kxa.3	Q9HA72	OTTHUMG00000018990	ENST00000260743.5:c.815C>T	10.37:g.105207066G>A	ENSP00000260743:p.Thr272Met					CALHM2_ENST00000369788.3_Missense_Mutation_p.T272M	p.T272M	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN			4	1338	-			272					D3DR94|O95893|Q6ZUV9	Missense_Mutation	SNP	ENST00000260743.5	37	c.815C>T	CCDS7549.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.555579	0.45487	.	.	ENSG00000138172	ENST00000369788;ENST00000260743	T;T	0.18810	2.19;2.19	5.37	4.46	0.54185	.	0.451987	0.23674	N	0.045690	T	0.15305	0.0369	L	0.38175	1.15	0.80722	D	1	P	0.42123	0.771	B	0.39068	0.289	T	0.01604	-1.1314	10	0.32370	T	0.25	-13.2639	8.2335	0.31612	0.1816:0.0:0.8184:0.0	.	272	Q9HA72	CAHM2_HUMAN	M	272	ENSP00000358803:T272M;ENSP00000260743:T272M	ENSP00000260743:T272M	T	-	2	0	CALHM2	105197056	0.691000	0.27709	0.959000	0.39883	0.905000	0.53344	2.563000	0.45922	2.529000	0.85273	0.561000	0.74099	ACG		0.597	CALHM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050159.1	NM_015916		44	77	0	0	0	1	0	44	77				
IFNA17	3451	broad.mit.edu	37	9	21227789	21227789	+	Silent	SNP	C	C	T	rs143881964	byFrequency	TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr9:21227789C>T	ENST00000413767.2	-	1	432	c.384G>A	c.(382-384)ggG>ggA	p.G128G		NM_021268.2	NP_067091.1	P01571	IFN17_HUMAN	interferon, alpha 17	128					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			breast(1)|endometrium(2)|lung(4)|ovary(1)|skin(1)	9				Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TCTCTTCCATCCCAACCTCCT	0.443																																						ENST00000413767.2																			0				breast(1)|endometrium(2)|lung(4)|ovary(1)|skin(1)	9						c.(382-384)ggG>ggA		interferon, alpha 17		C		1,4405	2.1+/-5.4	0,1,2202	195.0	199.0	197.0		384	-1.8	0.0	9	dbSNP_134	197	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	IFNA17	NM_021268.2		0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384		128/190	21227789	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	3451				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21227789C>T		CCDS6500.1	9p22	2010-12-10			ENSG00000234829	ENSG00000234829		"""Interferons"""	5422	protein-coding gene	gene with protein product		147583				1385305	Standard	NM_021268		Approved	LEIF2C1, IFN-alphaI	uc003zos.1	P01571	OTTHUMG00000019667	ENST00000413767.2:c.384G>A	9.37:g.21227789C>T							p.G128G	NM_021268.2	NP_067091.1	P01571	IFN17_HUMAN		Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)	1	432	-			128					Q14639|Q4KMT4|Q5VZ53|Q7M4Q4	Silent	SNP	ENST00000413767.2	37	c.384G>A	CCDS6500.1																																																																																				0.443	IFNA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051896.1	NM_021268		162	61	0	0	0	1	0	162	61				
ASB4	51666	broad.mit.edu	37	7	95166913	95166913	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr7:95166913A>T	ENST00000325885.5	+	5	1194	c.1123A>T	c.(1123-1125)Act>Tct	p.T375S		NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	375	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|positive regulation of vasculogenesis (GO:2001214)|protein autoubiquitination (GO:0051865)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			CTCTCTCTTTACTGTGTGCTG	0.393																																						ENST00000325885.5																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20						c.(1123-1125)Act>Tct		ankyrin repeat and SOCS box containing 4							172.0	161.0	164.0					7																	95166913		2203	4300	6503	SO:0001583	missense	51666				intracellular signal transduction			g.chr7:95166913A>T	AF156779	CCDS5641.1, CCDS5642.1	7q21-q22	2013-01-10	2011-01-25		ENSG00000005981	ENSG00000005981		"""Ankyrin repeat domain containing"""	16009	protein-coding gene	gene with protein product		605761	"""ankyrin repeat and SOCS box-containing 4"""				Standard	NM_145872		Approved	ASB-4	uc011kij.2	Q9Y574	OTTHUMG00000153960	ENST00000325885.5:c.1123A>T	7.37:g.95166913A>T	ENSP00000321388:p.Thr375Ser						p.T375S	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		5	1194	+	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		375			SOCS box.		A4D1H6|O14586|Q14D68|Q8TBT2	Missense_Mutation	SNP	ENST00000325885.5	37	c.1123A>T	CCDS5641.1	.	.	.	.	.	.	.	.	.	.	A	13.29	2.192960	0.38707	.	.	ENSG00000005981	ENST00000325885	T	0.29397	1.57	5.05	3.9	0.45041	.	0.477626	0.22797	N	0.055529	T	0.07458	0.0188	N	0.00483	-1.445	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20638	-1.0269	10	0.11182	T	0.66	-21.5161	7.0198	0.24908	0.772:0.0:0.228:0.0	.	375	Q9Y574	ASB4_HUMAN	S	375	ENSP00000321388:T375S	ENSP00000321388:T375S	T	+	1	0	ASB4	95004849	0.803000	0.28956	0.957000	0.39632	0.955000	0.61496	1.644000	0.37228	2.039000	0.60335	0.533000	0.62120	ACT		0.393	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333225.2	NM_016116		30	57	0	0	0	1	0	30	57				
TENM1	10178	broad.mit.edu	37	X	123514622	123514622	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chrX:123514622C>A	ENST00000371130.3	-	31	8005	c.7942G>T	c.(7942-7944)Gag>Tag	p.E2648*	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Nonsense_Mutation_p.E2655*	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2648					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)										CTGGCAATCTCCAACACGTGA	0.537																																						ENST00000422452.2																			0											c.(7963-7965)Gag>Tag		teneurin transmembrane protein 1							123.0	110.0	114.0					X																	123514622		2203	4300	6503	SO:0001587	stop_gained	10178							g.chrX:123514622C>A	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.7942G>T	X.37:g.123514622C>A	ENSP00000360171:p.Glu2648*					STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Nonsense_Mutation_p.E2648*	p.E2655*	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					32	8026	-								B2RTR5|Q5JZ17	Nonsense_Mutation	SNP	ENST00000371130.3	37	c.7963G>T	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	48	14.896189	0.99814	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	.	.	.	5.73	5.73	0.89815	.	0.151309	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	18.9144	0.92499	0.0:1.0:0.0:0.0	.	.	.	.	X	2648;2655	.	ENSP00000360171:E2648X	E	-	1	0	ODZ1	123342303	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	7.818000	0.86416	2.414000	0.81942	0.538000	0.68166	GAG		0.537	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		48	31	1	0	3.05275e-18	1	3.29218e-18	48	31				
ZKSCAN2	342357	broad.mit.edu	37	16	25266692	25266692	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr16:25266692C>T	ENST00000328086.7	-	2	1224	c.421G>A	c.(421-423)Gag>Aag	p.E141K		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	141					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GAGTGCTTCTCCCGGTGCACG	0.567																																						ENST00000328086.7																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36						c.(421-423)Gag>Aag		zinc finger with KRAB and SCAN domains 2							40.0	37.0	38.0					16																	25266692		2197	4300	6497	SO:0001583	missense	342357				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:25266692C>T	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.421G>A	16.37:g.25266692C>T	ENSP00000331626:p.Glu141Lys						p.E141K	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN		GBM - Glioblastoma multiforme(48;0.0378)	2	1224	-			141					A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	37	c.421G>A	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	C	9.511	1.105776	0.20632	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.13657	2.57	5.3	2.09	0.27110	Transcription regulator SCAN (1);	0.300021	0.29273	N	0.012625	T	0.15912	0.0383	M	0.69823	2.125	0.23089	N	0.998312	B;B	0.31949	0.348;0.001	B;B	0.35655	0.207;0.003	T	0.17715	-1.0360	10	0.72032	D	0.01	-5.1678	5.1567	0.15038	0.0:0.6346:0.1665:0.1989	.	141;141	Q63HK3-2;Q63HK3	.;ZKSC2_HUMAN	K	141	ENSP00000331626:E141K	ENSP00000331626:E141K	E	-	1	0	ZKSCAN2	25174193	0.682000	0.27624	0.056000	0.19401	0.003000	0.03518	0.923000	0.28757	0.248000	0.21435	-0.378000	0.06908	GAG		0.567	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		8	16	0	0	0	1	0	8	16				
PSMC6	5706	broad.mit.edu	37	14	53185712	53185712	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr14:53185712G>A	ENST00000606149.1	+	10	749	c.733G>A	c.(733-735)Gag>Aag	p.E245K	PSMC6_ENST00000445930.2_Missense_Mutation_p.E259K	NM_002806.3	NP_002797.3	P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	245					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein binding, bridging (GO:0030674)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					TCGGTTTTCTGAGGGTACTTC	0.348																																						ENST00000445930.2																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19						c.(775-777)Gag>Aag		proteasome (prosome, macropain) 26S subunit, ATPase, 6							115.0	115.0	115.0					14																	53185712		2203	4300	6503	SO:0001583	missense	5706				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging	g.chr14:53185712G>A		CCDS9710.2	14q22.1	2010-04-21			ENSG00000100519	ENSG00000100519		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9553	protein-coding gene	gene with protein product		602708				8674546, 9473509	Standard	NM_002806		Approved	p42	uc010tqx.2	P62333	OTTHUMG00000152333	ENST00000606149.1:c.733G>A	14.37:g.53185712G>A	ENSP00000475721:p.Glu245Lys					PSMC6_ENST00000606149.1_Missense_Mutation_p.E245K	p.E259K			P62333	PRS10_HUMAN			10	781	+	Breast(41;0.176)		245					B2R975|P49719|Q6IBU3|Q92524	Missense_Mutation	SNP	ENST00000606149.1	37	c.775G>A		.	.	.	.	.	.	.	.	.	.	G	21.3	4.122272	0.77436	.	.	ENSG00000100519	ENST00000445930	D	0.95035	-3.59	4.85	4.85	0.62838	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.94169	0.8129	L	0.28694	0.88	0.80722	D	1	P	0.44344	0.833	P	0.53760	0.734	D	0.94931	0.8082	10	0.62326	D	0.03	.	18.3437	0.90314	0.0:0.0:1.0:0.0	.	245	P62333	PRS10_HUMAN	K	259	ENSP00000401802:E259K	ENSP00000401802:E259K	E	+	1	0	PSMC6	52255462	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.153000	0.94687	2.391000	0.81399	0.585000	0.79938	GAG		0.348	PSMC6-018	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470741.1	NM_002806		16	70	0	0	0	1	0	16	70				
GSPT2	23708	broad.mit.edu	37	X	51487158	51487158	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chrX:51487158C>G	ENST00000340438.4	+	1	678	c.436C>G	c.(436-438)Cta>Gta	p.L146V		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	146					cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					GGAAATGGCCCTAGAAGAATC	0.507																																						ENST00000340438.4																			0				breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20						c.(436-438)Cta>Gta		G1 to S phase transition 2							29.0	28.0	28.0					X																	51487158		2203	4298	6501	SO:0001583	missense	23708				cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding	g.chrX:51487158C>G	AI285711	CCDS14336.1	Xp11.22	2008-05-14			ENSG00000189369	ENSG00000189369			4622	protein-coding gene	gene with protein product		300418				10575220	Standard	NM_018094		Approved	eRF3b, FLJ10441	uc004dpl.3	Q8IYD1	OTTHUMG00000021538	ENST00000340438.4:c.436C>G	X.37:g.51487158C>G	ENSP00000341247:p.Leu146Val						p.L146V	NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN			1	678	+	Ovarian(276;0.236)		146					Q9H909|Q9NVY0|Q9NY44	Missense_Mutation	SNP	ENST00000340438.4	37	c.436C>G	CCDS14336.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.153264	0.00325	.	.	ENSG00000189369	ENST00000340438;ENST00000502175	T	0.29142	1.58	4.97	1.14	0.20703	.	1.810830	0.02917	N	0.137461	T	0.22551	0.0544	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.13818	-1.0495	10	0.23891	T	0.37	-3.3156	5.0065	0.14291	0.0:0.5634:0.151:0.2856	.	146	Q8IYD1	ERF3B_HUMAN	V	146;63	ENSP00000341247:L146V	ENSP00000341247:L146V	L	+	1	2	GSPT2	51503898	0.998000	0.40836	0.018000	0.16275	0.019000	0.09904	0.803000	0.27083	-0.012000	0.14223	-0.196000	0.12772	CTA		0.507	GSPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056587.1			9	3	0	0	0	1	0	9	3				
MRPS15	64960	broad.mit.edu	37	1	36921903	36921903	+	Missense_Mutation	SNP	T	T	G			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr1:36921903T>G	ENST00000373116.5	-	7	682	c.521A>C	c.(520-522)aAc>aCc	p.N174T	MRPS15_ENST00000488606.1_5'UTR	NM_031280.3	NP_112570.2	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15	174					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GACATCATAGTTGGTGTTACG	0.468																																						ENST00000373116.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)	14						c.(520-522)aAc>aCc		mitochondrial ribosomal protein S15							93.0	88.0	90.0					1																	36921903		2203	4300	6503	SO:0001583	missense	64960				translation	mitochondrial small ribosomal subunit|nuclear membrane	structural constituent of ribosome	g.chr1:36921903T>G	AB049946	CCDS411.1	1p34.3	2012-09-13			ENSG00000116898	ENSG00000116898		"""Mitochondrial ribosomal proteins / small subunits"""	14504	protein-coding gene	gene with protein product		611979					Standard	NM_031280		Approved	FLJ11564	uc001cas.2	P82914	OTTHUMG00000008042	ENST00000373116.5:c.521A>C	1.37:g.36921903T>G	ENSP00000362208:p.Asn174Thr					MRPS15_ENST00000488606.1_5'UTR	p.N174T	NM_031280.3	NP_112570.2	P82914	RT15_HUMAN			7	682	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	174					B2RD82|Q9H2K1	Missense_Mutation	SNP	ENST00000373116.5	37	c.521A>C	CCDS411.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.007045	0.74932	.	.	ENSG00000116898	ENST00000373116	.	.	.	6.06	6.06	0.98353	S15/NS1, RNA-binding (2);	0.210728	0.48767	D	0.000173	T	0.80808	0.4694	M	0.91406	3.205	0.37709	D	0.924508	D	0.89917	1.0	D	0.77004	0.989	D	0.85670	0.1294	9	0.66056	D	0.02	-6.6297	7.6522	0.28354	0.0:0.1482:0.0:0.8518	.	174	P82914	RT15_HUMAN	T	174	.	ENSP00000362208:N174T	N	-	2	0	MRPS15	36694490	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.146000	0.42216	2.324000	0.78689	0.533000	0.62120	AAC		0.468	MRPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022052.2	NM_031280		10	51	0	0	0	1	0	10	51				
GOLPH3L	55204	broad.mit.edu	37	1	150636133	150636133	+	Missense_Mutation	SNP	C	C	T	rs587718255		TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr1:150636133C>T	ENST00000271732.3	-	3	334	c.290G>A	c.(289-291)cGt>cAt	p.R97H	GOLPH3L_ENST00000540514.1_Intron	NM_018178.5	NP_060648.2	Q9H4A5	GLP3L_HUMAN	golgi phosphoprotein 3-like	97					Golgi organization (GO:0007030)|positive regulation of protein secretion (GO:0050714)	Golgi membrane (GO:0000139)|trans-Golgi network membrane (GO:0032588)	phosphatidylinositol-4-phosphate binding (GO:0070273)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			TCGCTTCTTACGCATGGTCGG	0.488													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17582	0.0		0.0	False		,,,				2504	0.0					ENST00000271732.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8						c.(289-291)cGt>cAt		golgi phosphoprotein 3-like							113.0	107.0	109.0					1																	150636133		2203	4300	6503	SO:0001583	missense	55204					Golgi cisterna membrane		g.chr1:150636133C>T	AJ296153	CCDS966.1	1q21	2008-02-05			ENSG00000143457	ENSG00000143457			24882	protein-coding gene	gene with protein product		612208					Standard	NM_018178		Approved	GPP34R	uc001evj.2	Q9H4A5	OTTHUMG00000035009	ENST00000271732.3:c.290G>A	1.37:g.150636133C>T	ENSP00000271732:p.Arg97His					GOLPH3L_ENST00000540514.1_Intron	p.R97H	NM_018178.5	NP_060648.2	Q9H4A5	GLP3L_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)		3	334	-	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		97					B1AN09|B7Z6N3|Q9NVK0	Missense_Mutation	SNP	ENST00000271732.3	37	c.290G>A	CCDS966.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.806642	0.70682	.	.	ENSG00000143457	ENST00000271732;ENST00000369003;ENST00000427665	.	.	.	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000003	D	0.85822	0.5786	H	0.95260	3.645	0.80722	D	1	D	0.71674	0.998	D	0.69824	0.966	D	0.89592	0.3828	9	0.87932	D	0	-2.2844	18.1946	0.89817	0.0:1.0:0.0:0.0	.	97	Q9H4A5	GLP3L_HUMAN	H	97;119;119	.	ENSP00000271732:R97H	R	-	2	0	GOLPH3L	148902757	1.000000	0.71417	1.000000	0.80357	0.003000	0.03518	7.328000	0.79160	2.645000	0.89757	0.585000	0.79938	CGT		0.488	GOLPH3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084734.1	NM_018178		38	36	0	0	0	1	0	38	36				
SLC46A1	113235	broad.mit.edu	37	17	26726702	26726702	+	Silent	SNP	G	G	C			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr17:26726702G>C	ENST00000440501.1	-	6	1445	c.1350C>G	c.(1348-1350)ctC>ctG	p.L450L	SLC46A1_ENST00000321666.5_Silent_p.L421L|SLC46A1_ENST00000584729.1_5'UTR|SARM1_ENST00000457710.3_3'UTR|CTD-2350C19.1_ENST00000583956.1_RNA	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1	450					cellular iron ion homeostasis (GO:0006879)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|heme transporter activity (GO:0015232)|methotrexate transporter activity (GO:0015350)			lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)|Methotrexate(DB00563)|Sulfasalazine(DB00795)	GCTGGAACTCGAGGTGAGGAT	0.547																																						ENST00000440501.1																			0				lung(5)	5						c.(1348-1350)ctC>ctG		solute carrier family 46 (folate transporter), member 1	Folic Acid(DB00158)						91.0	92.0	92.0					17																	26726702		1959	4153	6112	SO:0001819	synonymous_variant	113235				cellular iron ion homeostasis|folic acid metabolic process	apical plasma membrane|cytoplasm|integral to membrane	folic acid binding|folic acid transporter activity|heme transporter activity	g.chr17:26726702G>C	AK054669	CCDS74019.1, CCDS74020.1	17q11.2	2014-09-17	2007-09-24			ENSG00000076351		"""Solute carriers"""	30521	protein-coding gene	gene with protein product	"""heme carrier protein 1"", ""proton-coupled folate transporter"""	611672	"""solute carrier family 46, member 1"""			16143108, 17129779	Standard	XM_005277786		Approved	HCP1, MGC9564, PCFT	uc002hbf.2	Q96NT5		ENST00000440501.1:c.1350C>G	17.37:g.26726702G>C						SARM1_ENST00000457710.3_3'UTR|SLC46A1_ENST00000584729.1_5'UTR|SLC46A1_ENST00000321666.5_Silent_p.L421L	p.L450L	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	6	1445	-	all_lung(13;0.000533)|Lung NSC(42;0.00171)		450					Q1HE20|Q86T92|Q8TEG3|Q96FL0	Silent	SNP	ENST00000440501.1	37	c.1350C>G																																																																																					0.547	SLC46A1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_080669		5	50	0	0	0	1	0	5	50				
ZNF846	162993	broad.mit.edu	37	19	9868341	9868341	+	Missense_Mutation	SNP	G	G	A	rs370153110		TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr19:9868341G>A	ENST00000397902.2	-	6	1825	c.1412C>T	c.(1411-1413)aCg>aTg	p.T471M	ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000588267.1_Intron|ZNF846_ENST00000592859.1_Intron	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	471					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						TCCTGTGTGCGTTCGCATGTG	0.428																																						ENST00000397902.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						c.(1411-1413)aCg>aTg		zinc finger protein 846		G	MET/THR	0,4310		0,0,2155	96.0	105.0	102.0		1412	2.0	0.0	19		102	2,8566		0,2,4282	no	missense	ZNF846	NM_001077624.1	81	0,2,6437	AA,AG,GG		0.0233,0.0,0.0155	probably-damaging	471/534	9868341	2,12876	2155	4284	6439	SO:0001583	missense	162993				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9868341G>A	AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"""Zinc fingers, C2H2-type"", ""-"""	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.1412C>T	19.37:g.9868341G>A	ENSP00000380999:p.Thr471Met					ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000588267.1_Intron	p.T471M	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN			6	1825	-			471					A8K0H1|B3KUP1	Missense_Mutation	SNP	ENST00000397902.2	37	c.1412C>T	CCDS42496.1	.	.	.	.	.	.	.	.	.	.	.	11.85	1.760237	0.31137	0.0	2.33E-4	ENSG00000196605	ENST00000397902	T	0.13089	2.62	2.01	2.01	0.26516	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22820	0.0551	L	0.45137	1.4	0.09310	N	1	D	0.89917	1.0	D	0.68353	0.957	T	0.07271	-1.0781	9	0.66056	D	0.02	.	4.5737	0.12223	0.1843:0.0:0.8157:0.0	.	471	Q147U1	ZN846_HUMAN	M	471	ENSP00000380999:T471M	ENSP00000380999:T471M	T	-	2	0	ZNF846	9729341	0.000000	0.05858	0.016000	0.15963	0.171000	0.22731	-3.209000	0.00557	1.458000	0.47871	0.456000	0.33151	ACG		0.428	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450253.1	NM_001077624		18	62	0	0	0	1	0	18	62				
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	159610009	159610009	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr3:159610009G>A	ENST00000460298.1	+	7	1563	c.1322G>A	c.(1321-1323)aGa>aAa	p.R441K	IQCJ-SCHIP1_ENST00000527095.1_Intron|SCHIP1_ENST00000482804.1_Intron|IQCJ-SCHIP1_ENST00000485419.1_Intron|IQCJ-SCHIP1_ENST00000337808.6_Intron|IQCJ-SCHIP1_ENST00000412423.2_Intron|SCHIP1_ENST00000445224.2_Intron|IQCJ-SCHIP1_ENST00000476809.1_Intron					IQCJ-SCHIP1 readthrough											central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						TGCCAAAGAAGAAAAGCCCAG	0.463																																						ENST00000460298.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						c.(1321-1323)aGa>aAa									50.0	46.0	48.0					3																	159610009		2203	4300	6503	SO:0001583	missense	100505385					cytoplasm	identical protein binding|protein binding	g.chr3:159610009G>A		CCDS56289.1, CCDS56291.1	3q25.33	2011-03-24			ENSG00000250588	ENSG00000250588			38842	other	readthrough							Standard	NM_001197113		Approved		uc003fcq.2		OTTHUMG00000162426	ENST00000460298.1:c.1322G>A	3.37:g.159610009G>A	ENSP00000417305:p.Arg441Lys					SCHIP1_ENST00000482804.1_Intron|IQCJ-SCHIP1_ENST00000527095.1_Intron|SCHIP1_ENST00000445224.2_Intron|IQCJ-SCHIP1_ENST00000476809.1_Intron|IQCJ-SCHIP1_ENST00000337808.6_Intron|IQCJ-SCHIP1_ENST00000412423.2_Intron|IQCJ-SCHIP1_ENST00000485419.1_Intron	p.R441K			Q9P0W5	SCHI1_HUMAN			7	1563	+			0						Missense_Mutation	SNP	ENST00000460298.1	37	c.1322G>A		.	.	.	.	.	.	.	.	.	.	G	3.519	-0.098168	0.07010	.	.	ENSG00000250588	ENST00000460298	T	0.40756	1.02	4.15	0.381	0.16228	.	.	.	.	.	T	0.22205	0.0535	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21552	-1.0242	7	.	.	.	.	4.0596	0.09832	0.3204:0.2079:0.4716:0.0	.	441	C9J366	.	K	441	ENSP00000417305:R441K	.	R	+	2	0	IQCJ-SCHIP1	161092703	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.259000	0.08721	0.045000	0.15804	-0.140000	0.14226	AGA		0.463	IQCJ-SCHIP1-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000352558.2	NM_001197113		8	13	0	0	0	1	0	8	13				
SS18L1	26039	broad.mit.edu	37	20	60737907	60737907	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr20:60737907C>T	ENST00000331758.3	+	5	502	c.476C>T	c.(475-477)tCg>tTg	p.S159L	SS18L1_ENST00000370848.4_Missense_Mutation_p.S162L|SS18L1_ENST00000421564.1_Missense_Mutation_p.S159L|SS18L1_ENST00000491916.1_3'UTR	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	159	Methionine-rich intra-molecular domain. {ECO:0000250}.				chromatin modification (GO:0016568)|dendrite development (GO:0016358)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of dendrite development (GO:0050773)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)|kinetochore (GO:0000776)|nuclear body (GO:0016604)|nucleus (GO:0005634)			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			GGACCCGCCTCGCAGGGCGTC	0.652			T	SSX1	synovial sarcoma																																	ENST00000331758.3				Dom	yes		20	20q13.3	26039	T	synovial sarcoma translocation gene on chromosome 18-like 1			M	SSX1		synovial sarcoma	SS18L1/SSX1(2)	0				ovary(2)|skin(1)	3						c.(475-477)tCg>tTg		synovial sarcoma translocation gene on chromosome 18-like 1							44.0	37.0	39.0					20																	60737907		2203	4300	6503	SO:0001583	missense	26039				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore		g.chr20:60737907C>T	AB014593	CCDS13491.1	20q13.3	2008-07-28			ENSG00000184402	ENSG00000184402			15592	protein-coding gene	gene with protein product		606472					Standard	XM_005260389		Approved	KIAA0693	uc002ycb.3	O75177	OTTHUMG00000032902	ENST00000331758.3:c.476C>T	20.37:g.60737907C>T	ENSP00000333012:p.Ser159Leu					SS18L1_ENST00000491916.1_3'UTR|SS18L1_ENST00000370848.4_Missense_Mutation_p.S162L|SS18L1_ENST00000421564.1_Missense_Mutation_p.S159L	p.S159L	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.92e-08)		5	502	+	Breast(26;3.97e-09)		159			Methionine-rich intra-molecular domain (By similarity).		A6NNE3|A8K620|B3KWR8|E1P5H7|Q5JXJ3|Q6MZV9|Q6NTH3|Q6XYD9|Q8NE69|Q9BR55|Q9H4K6	Missense_Mutation	SNP	ENST00000331758.3	37	c.476C>T	CCDS13491.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273755	0.80580	.	.	ENSG00000184402	ENST00000421564;ENST00000331758;ENST00000370848	T;T;T	0.40756	1.27;1.27;1.02	5.23	5.23	0.72850	.	0.131315	0.52532	D	0.000068	T	0.59183	0.2175	M	0.70275	2.135	0.52501	D	0.999958	D;D	0.76494	0.999;0.992	P;P	0.54664	0.758;0.628	T	0.64884	-0.6302	10	0.87932	D	0	-10.6255	18.7907	0.91973	0.0:1.0:0.0:0.0	.	159;159	B4DSR7;O75177	.;CREST_HUMAN	L	159;159;162	ENSP00000393999:S159L;ENSP00000333012:S159L;ENSP00000359885:S162L	ENSP00000333012:S159L	S	+	2	0	SS18L1	60171302	1.000000	0.71417	0.978000	0.43139	0.108000	0.19459	7.363000	0.79516	2.438000	0.82558	0.563000	0.77884	TCG		0.652	SS18L1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080004.2			26	50	0	0	0	1	0	26	50				
SPAG17	200162	broad.mit.edu	37	1	118644398	118644398	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr1:118644398C>T	ENST00000336338.5	-	5	664	c.599G>A	c.(598-600)cGg>cAg	p.R200Q		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	200						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTCTCCTCTCCGCTTTAACTG	0.512																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(598-600)cGg>cAg		sperm associated antigen 17							297.0	249.0	265.0					1																	118644398		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118644398C>T		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.599G>A	1.37:g.118644398C>T	ENSP00000337804:p.Arg200Gln						p.R200Q	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	5	664	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	200					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.599G>A	CCDS899.1	.	.	.	.	.	.	.	.	.	.	C	10.41	1.342664	0.24339	.	.	ENSG00000155761	ENST00000336338	T	0.70045	-0.45	5.24	3.38	0.38709	.	0.114058	0.64402	N	0.000020	T	0.35158	0.0922	L	0.50333	1.59	0.19945	N	0.999946	B	0.26876	0.162	B	0.21360	0.034	T	0.15464	-1.0436	10	0.26408	T	0.33	.	8.7278	0.34480	0.0:0.7553:0.0:0.2447	.	200	Q6Q759	SPG17_HUMAN	Q	200	ENSP00000337804:R200Q	ENSP00000337804:R200Q	R	-	2	0	SPAG17	118445921	0.331000	0.24713	0.361000	0.25849	0.101000	0.19017	0.630000	0.24553	0.723000	0.32274	0.555000	0.69702	CGG		0.512	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		46	84	0	0	0	1	0	46	84				
NUDT18	79873	broad.mit.edu	37	8	21965792	21965792	+	Silent	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr8:21965792C>T	ENST00000309188.6	-	4	346	c.228G>A	c.(226-228)ggG>ggA	p.G76G	NUDT18_ENST00000522405.1_5'UTR|NUDT18_ENST00000521807.2_3'UTR	NM_024815.3	NP_079091.3	Q6ZVK8	NUD18_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 18	76	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				dADP catabolic process (GO:0046057)|dGDP catabolic process (GO:0046067)|GDP catabolic process (GO:0046712)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	8-hydroxy-dADP phosphatase activity (GO:0044717)|8-oxo-dGDP phosphatase activity (GO:0044715)|8-oxo-GDP phosphatase activity (GO:0044716)|magnesium ion binding (GO:0000287)			breast(1)|central_nervous_system(1)|lung(2)	4				Colorectal(74;0.00185)|COAD - Colon adenocarcinoma(73;0.0608)|READ - Rectum adenocarcinoma(5;0.0986)		GCTCCATTCTCCCCGCAGGCA	0.652																																						ENST00000309188.6																			0				breast(1)|central_nervous_system(1)|lung(2)	4						c.(226-228)ggG>ggA		nudix (nucleoside diphosphate linked moiety X)-type motif 18							29.0	36.0	34.0					8																	21965792		2129	4216	6345	SO:0001819	synonymous_variant	79873						hydrolase activity|metal ion binding|protein binding	g.chr8:21965792C>T		CCDS75706.1	8p21.3	2012-07-31				ENSG00000275074		"""Nudix motif containing"""	26194	protein-coding gene	gene with protein product	"""mutT human homolog 3"""	615791				22556419	Standard	NM_024815		Approved	FLJ22494, MTH3	uc003xaq.1	Q6ZVK8		ENST00000309188.6:c.228G>A	8.37:g.21965792C>T						NUDT18_ENST00000521807.2_3'UTR|NUDT18_ENST00000522405.1_5'UTR	p.G76G	NM_024815.3	NP_079091.3	Q6ZVK8	NUD18_HUMAN		Colorectal(74;0.00185)|COAD - Colon adenocarcinoma(73;0.0608)|READ - Rectum adenocarcinoma(5;0.0986)	4	346	-			76			Nudix hydrolase.		Q8IZ75|Q9H687	Silent	SNP	ENST00000309188.6	37	c.228G>A		.	.	.	.	.	.	.	.	.	.	C	10.32	1.317400	0.23908	.	.	ENSG00000173566	ENST00000522379	.	.	.	5.1	4.21	0.49690	.	.	.	.	.	T	0.61751	0.2372	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59306	-0.7479	4	.	.	.	-39.9974	10.5141	0.44879	0.0:0.9027:0.0:0.0973	.	.	.	.	K	112	.	.	E	-	1	0	NUDT18	22021737	0.136000	0.22515	0.998000	0.56505	0.987000	0.75469	0.191000	0.17076	1.128000	0.42052	0.561000	0.74099	GAG		0.652	NUDT18-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_024815		3	13	0	0	0	1	0	3	13				
SPATA31D1	389763	broad.mit.edu	37	9	84607776	84607776	+	Silent	SNP	G	G	C			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr9:84607776G>C	ENST00000344803.2	+	4	2438	c.2391G>C	c.(2389-2391)ctG>ctC	p.L797L		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	797					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											ACAAGGATCTGAGGTCTAACT	0.468																																						ENST00000344803.2																			0											c.(2389-2391)ctG>ctC		SPATA31 subfamily D, member 1							97.0	94.0	95.0					9																	84607776		1896	4110	6006	SO:0001819	synonymous_variant	389763							g.chr9:84607776G>C		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.2391G>C	9.37:g.84607776G>C							p.L797L	NM_001001670.2	NP_001001670.1					4	2438	+									Silent	SNP	ENST00000344803.2	37	c.2391G>C	CCDS47986.1																																																																																				0.468	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		14	74	0	0	0	1	0	14	74				
C10orf55	414236	broad.mit.edu	37	10	75671331	75671331	+	3'UTR	SNP	G	G	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr10:75671331G>T	ENST00000409178.1	-	0	908				C10orf55_ENST00000412307.2_3'UTR|PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000446342.1_5'UTR|PLAU_ENST00000372762.4_Silent_p.A6A|PLAU_ENST00000372764.3_Silent_p.A6A	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55											endometrium(1)	1	Prostate(51;0.0112)					CCCTGCTGGCGCGCCTGCTTC	0.632																																						ENST00000372764.3																			0				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16						c.(16-18)gcG>gcT		plasminogen activator, urokinase	Amiloride(DB00594)|Urokinase(DB00013)						41.0	40.0	40.0					10																	75671331		2203	4300	6503	SO:0001624	3_prime_UTR_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.chr10:75671331G>T		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.*112C>A	10.37:g.75671331G>T						C10orf55_ENST00000412307.2_3'UTR|PLAU_ENST00000446342.1_5'UTR|C10orf55_ENST00000409178.1_3'UTR|PLAU_ENST00000372762.4_Silent_p.A6A|PLAU_ENST00000494287.1_3'UTR	p.A6A	NM_002658.3	NP_002649.1	P00749	UROK_HUMAN			2	111	+	Prostate(51;0.0112)		6					Q3KRG4|Q8NAK4	Silent	SNP	ENST00000409178.1	37	c.18G>T	CCDS53541.1																																																																																				0.632	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048746.1	NM_001001791		4	35	1	0	0.014758	1	0.0149391	4	35				
HDAC9	9734	broad.mit.edu	37	7	18684345	18684345	+	Silent	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr7:18684345C>T	ENST00000432645.2	+	8	955	c.955C>T	c.(955-957)Cta>Tta	p.L319L	HDAC9_ENST00000441542.2_Silent_p.L322L|HDAC9_ENST00000417496.2_Silent_p.L317L|HDAC9_ENST00000406072.1_Silent_p.L306L|HDAC9_ENST00000456174.2_Silent_p.L291L|HDAC9_ENST00000524023.1_Silent_p.L242L|HDAC9_ENST00000428307.2_Silent_p.L275L|HDAC9_ENST00000405010.3_Silent_p.L319L|HDAC9_ENST00000401921.1_Silent_p.L278L|HDAC9_ENST00000406451.4_Silent_p.L319L	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	319	Interaction with MAPK10. {ECO:0000250}.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|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)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CATGAACCTGCTAAGTCTTTA	0.413																																						ENST00000406451.3																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82						c.(955-957)Cta>Tta		histone deacetylase 9	Valproic Acid(DB00313)						121.0	111.0	114.0					7																	18684345		1884	4104	5988	SO:0001819	synonymous_variant	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase 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)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18684345C>T	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.955C>T	7.37:g.18684345C>T						HDAC9_ENST00000417496.2_Silent_p.L317L|HDAC9_ENST00000432645.2_Silent_p.L319L|HDAC9_ENST00000441542.2_Silent_p.L322L|HDAC9_ENST00000456174.2_Silent_p.L291L|HDAC9_ENST00000405010.3_Silent_p.L319L|HDAC9_ENST00000406072.1_Silent_p.L306L|HDAC9_ENST00000428307.2_Silent_p.L275L|HDAC9_ENST00000401921.1_Silent_p.L278L|HDAC9_ENST00000524023.1_Silent_p.L242L	p.L319L	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN			9	1105	+	all_lung(11;0.187)		319			Interaction with MAPK10 (By similarity).		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Silent	SNP	ENST00000432645.2	37	c.955C>T	CCDS47555.1																																																																																				0.413	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			18	24	0	0	0	1	0	18	24				
MYOCD	93649	broad.mit.edu	37	17	12655993	12655993	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr17:12655993C>G	ENST00000343344.4	+	10	1388	c.1388C>G	c.(1387-1389)tCt>tGt	p.S463C	MYOCD_ENST00000395988.1_3'UTR|MYOCD_ENST00000425538.1_Missense_Mutation_p.S463C|AC005358.1_ENST00000609971.1_Missense_Mutation_p.S367C			Q8IZQ8	MYCD_HUMAN	myocardin	463	Ser-rich.				cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CCAGCCTCCTCTGACCTGTCA	0.622																																						ENST00000425538.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70						c.(1387-1389)tCt>tGt		myocardin							76.0	71.0	73.0					17																	12655993		2203	4300	6503	SO:0001583	missense	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12655993C>G	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.1388C>G	17.37:g.12655993C>G	ENSP00000341835:p.Ser463Cys					MYOCD_ENST00000343344.4_Missense_Mutation_p.S463C|MYOCD_ENST00000395988.1_Missense_Mutation_p.S367C	p.S463C	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	10	1588	+			463			Ser-rich.		Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	c.1388C>G	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.900318	0.72754	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000395988;ENST00000443061	T;T	0.60171	0.28;0.21	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.79793	0.4507	M	0.85777	2.775	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;0.999	T	0.82287	-0.0532	10	0.72032	D	0.01	-10.1993	18.5089	0.90909	0.0:1.0:0.0:0.0	.	182;367;463;463	E9PEP9;Q8IZQ8-2;Q8IZQ8-3;Q8IZQ8	.;.;.;MYCD_HUMAN	C	182;463;463;367;168	ENSP00000341835:S463C;ENSP00000400148:S168C	ENSP00000341835:S463C	S	+	2	0	MYOCD	12596718	1.000000	0.71417	0.086000	0.20670	0.613000	0.37349	5.629000	0.67798	2.672000	0.90937	0.591000	0.81541	TCT		0.622	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		20	104	0	0	0	1	0	20	104				
MAN1A1	4121	broad.mit.edu	37	6	119611873	119611873	+	Nonsense_Mutation	SNP	G	G	C			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr6:119611873G>C	ENST00000368468.3	-	5	1313	c.872C>G	c.(871-873)tCa>tGa	p.S291*	MAN1A1_ENST00000368466.2_Nonsense_Mutation_p.S314*	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	291					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		ATAGTAGGCTGAGAGTAGTCC	0.318																																					Ovarian(136;8 1825 12608 33541 47587)	ENST00000368468.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24						c.(871-873)tCa>tGa		mannosidase, alpha, class 1A, member 1							84.0	87.0	86.0					6																	119611873		2203	4294	6497	SO:0001587	stop_gained	4121				post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr6:119611873G>C	AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.872C>G	6.37:g.119611873G>C	ENSP00000357453:p.Ser291*					MAN1A1_ENST00000368466.2_Nonsense_Mutation_p.S314*	p.S291*	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)	5	1313	-		all_epithelial(87;0.173)	291					E7EU32|Q6P052|Q9NU44|Q9UJI3	Nonsense_Mutation	SNP	ENST00000368468.3	37	c.872C>G	CCDS5122.1	.	.	.	.	.	.	.	.	.	.	G	42	9.602285	0.99216	.	.	ENSG00000111885	ENST00000368468;ENST00000368466	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-29.3088	19.3531	0.94398	0.0:0.0:1.0:0.0	.	.	.	.	X	291;314	.	.	S	-	2	0	MAN1A1	119653572	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.849000	0.86908	2.941000	0.99782	0.655000	0.94253	TCA		0.318	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042015.1	NM_005907		6	52	0	0	0	1	0	6	52				
TP53	7157	broad.mit.edu	37	17	7577085	7577085	+	Nonsense_Mutation	SNP	C	C	A	rs112431538		TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr17:7577085C>A	ENST00000269305.4	-	8	1042	c.853G>T	c.(853-855)Gag>Tag	p.E285*	TP53_ENST00000445888.2_Nonsense_Mutation_p.E285*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Nonsense_Mutation_p.E285*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E285*|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Nonsense_Mutation_p.E285*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	285	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726, ECO:0000269|PubMed:1694291}.|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|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)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|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 core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E285K(111)|p.E285*(24)|p.0?(8)|p.E285Q(4)|p.?(2)|p.R283fs*16(2)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTCTCTTCCTCTGTGCGCCGG	0.562		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		165	Substitution - Missense(115)|Substitution - Nonsense(24)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(2)	p.E285K(111)|p.E285*(24)|p.0?(8)|p.E285Q(4)|p.?(2)|p.R283fs*16(2)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1)	urinary_tract(53)|breast(18)|large_intestine(15)|lung(11)|upper_aerodigestive_tract(10)|stomach(8)|haematopoietic_and_lymphoid_tissue(8)|central_nervous_system(6)|oesophagus(6)|liver(6)|skin(5)|prostate(4)|bone(4)|biliary_tract(3)|ovary(3)|adrenal_gland(1)|soft_tissue(1)|eye(1)|pancreas(1)|thyroid(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM995136	TP53	M	rs112431538	c.(853-855)Gag>Tag	Other conserved DNA damage response genes	tumor protein p53							91.0	78.0	82.0					17																	7577085		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577085C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.853G>T	17.37:g.7577085C>A	ENSP00000269305:p.Glu285*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.E285*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E285*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E285*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E285*	p.E285*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	985	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	285		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.853G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	36	5.741087	0.96873	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-38.0538	15.807	0.78520	0.0:1.0:0.0:0.0	.	.	.	.	X	285;285;285;285;285;274;153	.	ENSP00000269305:E285X	E	-	1	0	TP53	7517810	1.000000	0.71417	0.900000	0.35374	0.716000	0.41182	7.587000	0.82613	2.579000	0.87056	0.462000	0.41574	GAG		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		38	17	1	0	6.2361e-21	1	6.76946e-21	38	17				
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	byFrequency	TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr16:90161926T>C	ENST00000564451.1	+	0	1279				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527													.|||	3140	0.626997	0.9395	0.5	5008	,	,		11330	0.7847		0.4702	False		,,,				2504	0.2935					ENST00000567960.1																			3	Substitution - Missense(3)	p.I221T(3)	kidney(2)|prostate(1)																																																197331							g.chr16:90161926T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161926T>C						TUBB8P7_ENST00000564451.1_RNA								0	662	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.527	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		5	39	0	0	0	1	0	5	39				
ADAM20	8748	broad.mit.edu	37	14	70990093	70990093	+	Nonsense_Mutation	SNP	G	G	C	rs376505523		TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr14:70990093G>C	ENST00000256389.3	-	2	1776	c.1532C>G	c.(1531-1533)tCa>tGa	p.S511*	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	461	Cys-rich.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TAAAGTTCCTGATGGCAGAAA	0.458																																						ENST00000256389.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27						c.(1531-1533)tCa>tGa		ADAM metallopeptidase domain 20							124.0	116.0	119.0					14																	70990093		2203	4300	6503	SO:0001587	stop_gained	8748				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70990093G>C	AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"""ADAM metallopeptidase domain containing"""	199	protein-coding gene	gene with protein product		603712	"""a disintegrin and metalloproteinase domain 20"""			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.1532C>G	14.37:g.70990093G>C	ENSP00000256389:p.Ser511*					RP11-486O13.4_ENST00000556646.1_lincRNA	p.S511*	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)	2	1776	-			461			Cys-rich.		Q6GTZ1|Q9UKJ9	Nonsense_Mutation	SNP	ENST00000256389.3	37	c.1532C>G	CCDS32111.1	.	.	.	.	.	.	.	.	.	.	G	33	5.285401	0.95517	.	.	ENSG00000134007	ENST00000256389	.	.	.	4.44	3.53	0.40419	.	0.549039	0.13566	U	0.378403	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	7.0748	0.25199	0.0904:0.0:0.7394:0.1702	.	.	.	.	X	511	.	ENSP00000256389:S511X	S	-	2	0	ADAM20	70059846	0.019000	0.18553	0.009000	0.14445	0.004000	0.04260	1.562000	0.36353	0.945000	0.37605	0.557000	0.71058	TCA		0.458	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2			23	121	0	0	0	1	0	23	121				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		5	65	0	0	0	1	0	5	65				
CAD	790	broad.mit.edu	37	2	27454980	27454980	+	Missense_Mutation	SNP	G	G	A	rs368446772		TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr2:27454980G>A	ENST00000403525.1	+	16	2488	c.2344G>A	c.(2344-2346)Gca>Aca	p.A782T	CAD_ENST00000464159.1_3'UTR|CAD_ENST00000264705.4_Missense_Mutation_p.A845T			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCGTATCATCGCACATGCCCA	0.562																																						ENST00000264705.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(2533-2535)Gca>Aca		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	G	THR/ALA	0,4406		0,0,2203	117.0	100.0	106.0		2533	-2.8	0.0	2		106	1,8599	1.2+/-3.3	0,1,4299	no	missense	CAD	NM_004341.3	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	845/2226	27454980	1,13005	2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27454980G>A	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.2344G>A	2.37:g.27454980G>A	ENSP00000384510:p.Ala782Thr					CAD_ENST00000464159.1_3'UTR|CAD_ENST00000403525.1_Missense_Mutation_p.A782T	p.A845T	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			17	2695	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		845			CPSase (Carbamoyl-phosphate synthase).|CPSase A.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.2533G>A		.	.	.	.	.	.	.	.	.	.	G	4.664	0.123539	0.08931	0.0	1.16E-4	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.96554	-4.05;-4.05	5.38	-2.77	0.05877	Carbamoyl-phosphate synthetase, large subunit, oligomerisation (3);	0.411602	0.29348	N	0.012413	D	0.88930	0.6571	N	0.12853	0.265	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.73610	-0.3928	10	0.23891	T	0.37	-6.013	13.2084	0.59811	0.4636:0.0:0.5364:0.0	.	782;845	F8VPD4;P27708	.;PYR1_HUMAN	T	845;782	ENSP00000264705:A845T;ENSP00000384510:A782T	ENSP00000264705:A845T	A	+	1	0	CAD	27308484	0.374000	0.25081	0.000000	0.03702	0.006000	0.05464	1.271000	0.33098	-1.202000	0.02655	-1.814000	0.00607	GCA		0.562	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			17	97	0	0	0	1	0	17	97				
ARHGEF4	50649	broad.mit.edu	37	2	131796456	131796456	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr2:131796456G>A	ENST00000326016.5	+	6	1117	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K	ARHGEF4_ENST00000355771.3_Missense_Mutation_p.E129K|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.E200K|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.E200K|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000392953.3_Missense_Mutation_p.E200K|ARHGEF4_ENST00000439368.2_3'UTR	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	200	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		GGTCTGCGCTGAAGCACTCTG	0.627																																						ENST00000392953.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29						c.(598-600)Gaa>Aaa		Rho guanine nucleotide exchange factor (GEF) 4							68.0	61.0	63.0					2																	131796456		2203	4300	6503	SO:0001583	missense	50649				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity	g.chr2:131796456G>A	AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	684	protein-coding gene	gene with protein product	"""APC-stimulated guanine nucleotide exchange factor"""	605216				10873612	Standard	NM_015320		Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657	ENST00000326016.5:c.598G>A	2.37:g.131796456G>A	ENSP00000316845:p.Glu200Lys					ARHGEF4_ENST00000409303.1_Missense_Mutation_p.E200K|ARHGEF4_ENST00000355771.3_Missense_Mutation_p.E129K|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000326016.5_Missense_Mutation_p.E200K|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.E200K|ARHGEF4_ENST00000439368.2_3'UTR	p.E200K	NM_032995.1	NP_127462.1	Q9NR80	ARHG4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.097)	6	1117	+		Prostate(154;0.055)	200			SH3.		Q9HDC6|Q9UPP0	Missense_Mutation	SNP	ENST00000326016.5	37	c.598G>A	CCDS2165.1	.	.	.	.	.	.	.	.	.	.	G	35	5.589734	0.96590	.	.	ENSG00000136002	ENST00000326016;ENST00000392953;ENST00000525839;ENST00000409303;ENST00000355771	T;T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49;-1.49	4.57	4.57	0.56435	Src homology-3 domain (2);	0.000000	0.85682	D	0.000000	D	0.82710	0.5096	L	0.28054	0.825	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.999	T	0.81636	-0.0843	10	0.32370	T	0.25	.	15.1989	0.73120	0.0:0.0:1.0:0.0	.	200;200;200	E9PEM0;Q9NR80-4;Q9NR80	.;.;ARHG4_HUMAN	K	200;200;200;200;129	ENSP00000316845:E200K;ENSP00000376680:E200K;ENSP00000432267:E200K;ENSP00000387285:E200K;ENSP00000348017:E129K	ENSP00000316845:E200K	E	+	1	0	ARHGEF4	131512926	1.000000	0.71417	0.992000	0.48379	0.970000	0.65996	9.053000	0.93860	2.248000	0.74166	0.563000	0.77884	GAA		0.627	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254554.4			11	55	0	0	0	1	0	11	55				
ZNF699	374879	broad.mit.edu	37	19	9406167	9406167	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr19:9406167G>A	ENST00000591998.1	-	6	2141	c.1913C>T	c.(1912-1914)aCt>aTt	p.T638I	CTC-325H20.4_ENST00000591336.1_RNA|ZNF699_ENST00000308650.3_Missense_Mutation_p.T638I			Q32M78	ZN699_HUMAN	zinc finger protein 699	638					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)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTTTTCTCTAGTGTGAGTTTT	0.423																																						ENST00000591998.1																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1912-1914)aCt>aTt		zinc finger protein 699							99.0	105.0	103.0					19																	9406167		2188	4294	6482	SO:0001583	missense	374879				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9406167G>A	BC109268	CCDS42495.1	19p13.2	2013-01-08				ENSG00000196110		"""Zinc fingers, C2H2-type"", ""-"""	24750	protein-coding gene	gene with protein product	hangover homolog (Drosophila)	609571				16940975	Standard	NM_198535		Approved	FLJ38144, hang	uc002mlc.1	Q32M78		ENST00000591998.1:c.1913C>T	19.37:g.9406167G>A	ENSP00000467723:p.Thr638Ile					ZNF699_ENST00000308650.3_Missense_Mutation_p.T638I	p.T638I			Q32M78	ZN699_HUMAN			6	2141	-			638					Q8N9A1	Missense_Mutation	SNP	ENST00000591998.1	37	c.1913C>T	CCDS42495.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.063504	0.36373	.	.	ENSG00000196110	ENST00000308650	T	0.07800	3.16	3.81	-3.02	0.05446	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.278890	0.05827	N	0.616826	T	0.11367	0.0277	M	0.65975	2.015	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.44726	-0.9309	10	0.56958	D	0.05	.	10.0675	0.42313	0.086:0.535:0.379:0.0	.	638	Q32M78	ZN699_HUMAN	I	638	ENSP00000311596:T638I	ENSP00000311596:T638I	T	-	2	0	ZNF699	9267167	0.000000	0.05858	0.000000	0.03702	0.448000	0.32197	0.460000	0.21924	-0.366000	0.08064	0.555000	0.69702	ACT		0.423	ZNF699-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449010.1	NM_198535		30	57	0	0	0	1	0	30	57				
MSH4	4438	broad.mit.edu	37	1	76378501	76378501	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr1:76378501A>G	ENST00000263187.3	+	20	2844	c.2740A>G	c.(2740-2742)Agt>Ggt	p.S914G		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	914			S -> N (in dbSNP:rs5745549). {ECO:0000269|Ref.3}.		ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						AATATATTTAAGTAACCTCAA	0.358								Mismatch excision repair (MMR)																														ENST00000263187.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						c.(2740-2742)Agt>Ggt	Mismatch excision repair (MMR)	mutS homolog 4							53.0	55.0	55.0					1																	76378501		2203	4300	6503	SO:0001583	missense	4438				chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr1:76378501A>G	U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.2740A>G	1.37:g.76378501A>G	ENSP00000263187:p.Ser914Gly						p.S914G	NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN			20	2844	+			914		S -> N (in dbSNP:rs5745549).			Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	ENST00000263187.3	37	c.2740A>G	CCDS670.1	.	.	.	.	.	.	.	.	.	.	A	10.83	1.461465	0.26248	.	.	ENSG00000057468	ENST00000263187	D	0.87809	-2.3	5.22	2.8	0.32819	.	0.393563	0.29389	N	0.012283	T	0.62011	0.2393	L	0.36672	1.1	0.23827	N	0.996736	B	0.33413	0.411	B	0.27076	0.076	T	0.51340	-0.8718	10	0.30078	T	0.28	-23.8937	8.074	0.30706	0.7271:0.1274:0.0:0.1455	.	914	O15457	MSH4_HUMAN	G	914	ENSP00000263187:S914G	ENSP00000263187:S914G	S	+	1	0	MSH4	76151089	1.000000	0.71417	0.980000	0.43619	0.837000	0.47467	3.933000	0.56545	0.335000	0.23614	0.383000	0.25322	AGT		0.358	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440		4	25	0	0	0	1	0	4	25				
SOGA3	387104	broad.mit.edu	37	6	127796884	127796884	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr6:127796884C>T	ENST00000525778.1	-	6	3032	c.2287G>A	c.(2287-2289)Gac>Aac	p.D763N	SOGA3_ENST00000556132.1_Missense_Mutation_p.D763N|SOGA3_ENST00000465909.2_Missense_Mutation_p.D763N|SOGA3_ENST00000474293.2_5'Flank|SOGA3_ENST00000481848.2_Missense_Mutation_p.D763N|SOGA3_ENST00000368268.2_Missense_Mutation_p.D763N			Q5TF21	SOGA3_HUMAN	SOGA family member 3	763					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											GAGTCGTCGTCGCTCTCCTTC	0.706																																						ENST00000556132.1																			0											c.(2287-2289)Gac>Aac		SOGA family member 3							34.0	42.0	40.0					6																	127796884		2139	4222	6361	SO:0001583	missense	387104					integral to membrane		g.chr6:127796884C>T	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.2287G>A	6.37:g.127796884C>T	ENSP00000434570:p.Asp763Asn					SOGA3_ENST00000481848.2_Missense_Mutation_p.D763N|SOGA3_ENST00000368268.2_Missense_Mutation_p.D763N|SOGA3_ENST00000465909.2_Missense_Mutation_p.D763N|SOGA3_ENST00000525778.1_Missense_Mutation_p.D763N	p.D763N	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN			6	3151	-			763						Missense_Mutation	SNP	ENST00000525778.1	37	c.2287G>A	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.776668	0.90195	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	5.27	5.27	0.74061	.	0.330280	0.33591	N	0.004745	T	0.50222	0.1603	M	0.69358	2.11	0.58432	D	0.999998	D	0.76494	0.999	D	0.63283	0.913	T	0.51204	-0.8735	10	0.54805	T	0.06	-27.7462	18.91	0.92479	0.0:1.0:0.0:0.0	.	763	Q5TF21	CF174_HUMAN	N	763	ENSP00000451768:D763N;ENSP00000357251:D763N;ENSP00000434570:D763N;ENSP00000435559:D763N	ENSP00000435559:D763N	D	-	1	0	C6orf174	127838577	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.670000	0.61583	2.476000	0.83614	0.462000	0.41574	GAC		0.706	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		22	87	0	0	0	1	0	22	87				
NMBR	4829	broad.mit.edu	37	6	142399868	142399868	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr6:142399868T>C	ENST00000258042.1	-	2	735	c.595A>G	c.(595-597)Atc>Gtc	p.I199V	NMBR_ENST00000480652.1_5'Flank	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	199					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		GGGTATGGGATACATGCTGTG	0.433																																						ENST00000258042.1																			0				breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(595-597)Atc>Gtc		neuromedin B receptor							178.0	171.0	173.0					6																	142399868		2203	4300	6503	SO:0001583	missense	4829				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity	g.chr6:142399868T>C		CCDS5196.1	6q24.1	2014-02-21			ENSG00000135577	ENSG00000135577		"""GPCR / Class A : Bombesin receptors"""	7843	protein-coding gene	gene with protein product	"""bombesin receptor 1"""	162341					Standard	NM_002511		Approved	BB1	uc003qiu.3	P28336	OTTHUMG00000015704	ENST00000258042.1:c.595A>G	6.37:g.142399868T>C	ENSP00000258042:p.Ile199Val						p.I199V	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)	2	735	-	Breast(32;0.155)		199					E9KL38|Q5VUK8	Missense_Mutation	SNP	ENST00000258042.1	37	c.595A>G	CCDS5196.1	.	.	.	.	.	.	.	.	.	.	T	1.312	-0.601769	0.03744	.	.	ENSG00000135577	ENST00000258042	T	0.36340	1.26	5.48	3.05	0.35203	GPCR, rhodopsin-like superfamily (1);	0.148484	0.64402	N	0.000015	T	0.07863	0.0197	N	0.17278	0.47	0.34979	D	0.753895	B	0.06786	0.001	B	0.15870	0.014	T	0.20405	-1.0276	10	0.15499	T	0.54	-11.519	9.9001	0.41342	0.0:0.14:0.0:0.86	.	199	P28336	NMBR_HUMAN	V	199	ENSP00000258042:I199V	ENSP00000258042:I199V	I	-	1	0	NMBR	142441561	1.000000	0.71417	0.715000	0.30552	0.779000	0.44077	1.542000	0.36137	0.370000	0.24538	0.477000	0.44152	ATC		0.433	NMBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042479.1			77	81	0	0	0	1	0	77	81				
CPQ	10404	broad.mit.edu	37	8	97847351	97847351	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr8:97847351C>T	ENST00000220763.5	+	3	794	c.584C>T	c.(583-585)gCc>gTc	p.A195V		NM_016134.2	NP_057218.1	Q9Y646	CBPQ_HUMAN	carboxypeptidase Q	195					peptide catabolic process (GO:0043171)|proteolysis (GO:0006508)|thyroid hormone generation (GO:0006590)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)	carboxypeptidase activity (GO:0004180)|metal ion binding (GO:0046872)|metallodipeptidase activity (GO:0070573)|protein homodimerization activity (GO:0042803)										GTGGAAGCTGCCAAGGTGGGG	0.488																																						ENST00000220763.5																			0											c.(583-585)gCc>gTc		carboxypeptidase Q							99.0	99.0	99.0					8																	97847351		2203	4300	6503	SO:0001583	missense	10404				peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity	g.chr8:97847351C>T	AF107834	CCDS6273.1	8q22.2	2012-02-17			ENSG00000104324	ENSG00000104324			16910	protein-coding gene	gene with protein product	"""lysosomal dipeptidase"", ""Ser-Met dipeptidase"", ""plasma glutamate carboxypeptidase"""					10206990	Standard	NM_016134		Approved	LDP, PGCP	uc003yhw.3	Q9Y646	OTTHUMG00000164690	ENST00000220763.5:c.584C>T	8.37:g.97847351C>T	ENSP00000220763:p.Ala195Val						p.A195V	NM_016134.2	NP_057218.1	Q9Y646	PGCP_HUMAN			3	794	+			195					B2RD88|Q8NBZ1|Q9UNM8|Q9Y5X6	Missense_Mutation	SNP	ENST00000220763.5	37	c.584C>T	CCDS6273.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.740522	0.69304	.	.	ENSG00000104324	ENST00000220763	T	0.51325	0.71	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.71970	0.3403	M	0.87547	2.89	0.58432	D	0.999991	D;D	0.76494	0.996;0.999	D;D	0.73380	0.954;0.98	T	0.70528	-0.4847	10	0.25106	T	0.35	-24.9599	17.8439	0.88724	0.0:1.0:0.0:0.0	.	195;195	B5MDX4;Q9Y646	.;PGCP_HUMAN	V	195	ENSP00000220763:A195V	ENSP00000220763:A195V	A	+	2	0	AC010859.1	97916527	1.000000	0.71417	0.997000	0.53966	0.277000	0.26821	5.452000	0.66638	2.638000	0.89438	0.655000	0.94253	GCC		0.488	CPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379757.2	NM_016134		4	88	0	0	0	1	0	4	88				
ARHGAP19	84986	broad.mit.edu	37	10	99003736	99003736	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr10:99003736G>A	ENST00000358531.4	-	8	1202	c.1174C>T	c.(1174-1176)Ctt>Ttt	p.L392F	ARHGAP19_ENST00000487035.1_5'UTR|ARHGAP19-SLIT1_ENST00000453547.2_Missense_Mutation_p.L392F|ARHGAP19_ENST00000371027.1_Missense_Mutation_p.L383F|ARHGAP19_ENST00000355366.5_Missense_Mutation_p.L383F|ARHGAP19-SLIT1_ENST00000316676.8_Missense_Mutation_p.L392F|ARHGAP19-SLIT1_ENST00000358308.3_Missense_Mutation_p.L363F	NM_001204300.1|NM_032900.5	NP_001191229.1|NP_116289.4	Q14CB8	RHG19_HUMAN	Rho GTPase activating protein 19	392					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1)	13		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		TGTCTAATAAGTTGTTTCTTC	0.458																																						ENST00000453547.2																			0											c.(1174-1176)Ctt>Ttt									139.0	125.0	130.0					10																	99003736		2203	4300	6503	SO:0001583	missense	100533184							g.chr10:99003736G>A	AK074122	CCDS7454.2, CCDS58092.1, CCDS73175.1	10q24.2	2011-06-29			ENSG00000213390	ENSG00000213390		"""Rho GTPase activating proteins"""	23724	protein-coding gene	gene with protein product		611587					Standard	NM_032900		Approved	FLJ00194, MGC14258	uc001knb.3	Q14CB8	OTTHUMG00000018845	ENST00000358531.4:c.1174C>T	10.37:g.99003736G>A	ENSP00000351333:p.Leu392Phe					ARHGAP19_ENST00000355366.5_Missense_Mutation_p.L383F|ARHGAP19_ENST00000358531.4_Missense_Mutation_p.L392F|ARHGAP19_ENST00000487035.1_5'UTR|ARHGAP19-SLIT1_ENST00000316676.8_Missense_Mutation_p.L392F|ARHGAP19_ENST00000371027.1_Missense_Mutation_p.L383F|ARHGAP19-SLIT1_ENST00000358308.3_Missense_Mutation_p.L363F	p.L392F							8	1173	-								A1XCP1|B4DZR1|Q14CF2|Q5J8M2|Q5T460|Q5T462|Q68DG6|Q8N9X1|Q8NF34|Q8TEK1	Missense_Mutation	SNP	ENST00000358531.4	37	c.1174C>T	CCDS7454.2	.	.	.	.	.	.	.	.	.	.	G	23.6	4.430075	0.83776	.	.	ENSG00000213390	ENST00000453547;ENST00000316676;ENST00000355366;ENST00000358531;ENST00000371027;ENST00000393817;ENST00000358308	T;T;T;T;T;T	0.29142	2.6;2.63;2.65;2.63;2.65;1.58	5.82	5.82	0.92795	.	0.000000	0.64402	U	0.000001	T	0.59004	0.2162	M	0.75264	2.295	0.54753	D	0.999983	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.992;0.992;0.995	T	0.59526	-0.7438	10	0.66056	D	0.02	-12.2531	19.694	0.96016	0.0:0.0:1.0:0.0	.	363;392;383	Q14CB8-6;Q14CB8;Q14CB8-3	.;RHG19_HUMAN;.	F	392;392;383;392;383;211;363	ENSP00000414774:L392F;ENSP00000324468:L392F;ENSP00000347526:L383F;ENSP00000351333:L392F;ENSP00000360066:L383F;ENSP00000351058:L363F	ENSP00000324468:L392F	L	-	1	0	ARHGAP19	98993726	1.000000	0.71417	0.744000	0.31058	0.965000	0.64279	5.297000	0.65704	2.751000	0.94390	0.655000	0.94253	CTT		0.458	ARHGAP19-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049647.2	NM_032900		35	71	0	0	0	1	0	35	71				
OOEP	441161	broad.mit.edu	37	6	74079426	74079426	+	Silent	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr6:74079426C>T	ENST00000370359.5	-	1	89	c.90G>A	c.(88-90)ccG>ccA	p.P30P	OOEP-AS1_ENST00000445350.2_RNA|OOEP_ENST00000370363.1_Intron	NM_001080507.2	NP_001073976.1	A6NGQ2	OOEP_HUMAN	oocyte expressed protein	30					cellular protein complex assembly (GO:0043623)|embryo implantation (GO:0007566)|embryonic pattern specification (GO:0009880)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|protein phosphorylation (GO:0006468)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|protein complex (GO:0043234)	RNA binding (GO:0003723)			large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						TCTGTGGCGGCGGAAGTGGTA	0.612																																						ENST00000370359.5																			0				large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(88-90)ccG>ccA		oocyte expressed protein							61.0	71.0	68.0					6																	74079426		2100	4246	6346	SO:0001819	synonymous_variant	441161					cytoplasm		g.chr6:74079426C>T	BC024931	CCDS47451.1	6q13	2012-02-22	2012-02-22	2007-11-13	ENSG00000203907	ENSG00000203907			21382	protein-coding gene	gene with protein product	"""KH homology domain containing 2"""	611689	"""chromosome 6 open reading frame 156"", ""oocyte expressed protein homolog (dog)"""	C6orf156		17913455	Standard	NM_001080507		Approved	Em:AC019205.2, KHDC2	uc003pgu.4	A6NGQ2	OTTHUMG00000150057	ENST00000370359.5:c.90G>A	6.37:g.74079426C>T						OOEP_ENST00000370363.1_Intron|OOEP-AS1_ENST00000445350.2_RNA	p.P30P	NM_001080507.2	NP_001073976.1	A6NGQ2	OOEP_HUMAN			1	89	-			30					A6NIN5|A9UIB7	Silent	SNP	ENST00000370359.5	37	c.90G>A	CCDS47451.1																																																																																				0.612	OOEP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108414.2	NM_001080507		84	73	0	0	0	1	0	84	73				
CAT	847	broad.mit.edu	37	11	34473710	34473710	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr11:34473710G>A	ENST00000241052.4	+	4	525	c.436G>A	c.(436-438)Gtt>Att	p.V146I		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	146					aerobic respiration (GO:0009060)|cellular response to growth factor stimulus (GO:0071363)|cholesterol metabolic process (GO:0008203)|hemoglobin metabolic process (GO:0020027)|hydrogen peroxide catabolic process (GO:0042744)|menopause (GO:0042697)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleobase-containing small molecule metabolic process (GO:0055086)|osteoblast differentiation (GO:0001649)|positive regulation of cell division (GO:0051781)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to reactive oxygen species (GO:0000302)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|ureteric bud development (GO:0001657)|UV protection (GO:0009650)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	aminoacylase activity (GO:0004046)|antioxidant activity (GO:0016209)|catalase activity (GO:0004096)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	CTGGGATCTCGTTGGAAATAA	0.403																																						ENST00000241052.4																			0				breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26						c.(436-438)Gtt>Att		catalase	Fomepizole(DB01213)						112.0	109.0	110.0					11																	34473710		2202	4298	6500	SO:0001583	missense	847				hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity	g.chr11:34473710G>A	AY028632	CCDS7891.1	11p13	2012-10-02			ENSG00000121691	ENSG00000121691	1.11.1.6		1516	protein-coding gene	gene with protein product		115500					Standard	NM_001752		Approved		uc001mvm.3	P04040	OTTHUMG00000044353	ENST00000241052.4:c.436G>A	11.37:g.34473710G>A	ENSP00000241052:p.Val146Ile						p.V146I	NM_001752.3	NP_001743.1	P04040	CATA_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000995)	4	525	+		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)	146					A8K6C0|B2RCZ9|D3DR07|Q2M1U4|Q4VXX5|Q9BWT9|Q9UC85	Missense_Mutation	SNP	ENST00000241052.4	37	c.436G>A	CCDS7891.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.618821	0.87460	.	.	ENSG00000121691	ENST00000241052	D	0.94828	-3.53	5.91	3.85	0.44370	Catalase domain (1);Catalase, N-terminal (2);	0.277456	0.35407	N	0.003237	D	0.95554	0.8555	H	0.96662	3.86	0.43058	D	0.994678	P	0.35226	0.491	B	0.34346	0.18	D	0.95512	0.8587	10	0.87932	D	0	-16.4956	9.2882	0.37771	0.2611:0.0:0.7389:0.0	.	146	P04040	CATA_HUMAN	I	146	ENSP00000241052:V146I	ENSP00000241052:V146I	V	+	1	0	CAT	34430286	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	4.418000	0.59828	1.522000	0.49001	0.555000	0.69702	GTT		0.403	CAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103197.2	NM_001752		33	30	0	0	0	1	0	33	30				
ADAMTS3	9508	broad.mit.edu	37	4	73175219	73175219	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr4:73175219C>G	ENST00000286657.4	-	15	2110	c.2074G>C	c.(2074-2076)Gaa>Caa	p.E692Q		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	692	Cys-rich.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAACCAATTTCTTTATCACAG	0.448																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(2074-2076)Gaa>Caa		ADAM metallopeptidase with thrombospondin type 1 motif, 3							120.0	111.0	114.0					4																	73175219		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73175219C>G	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.2074G>C	4.37:g.73175219C>G	ENSP00000286657:p.Glu692Gln						p.E692Q	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		15	2110	-			692			Cys-rich.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.2074G>C	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.593039	0.66219	.	.	ENSG00000156140	ENST00000286657	T	0.69175	-0.38	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.75671	0.3881	L	0.31926	0.97	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74529	-0.3635	10	0.44086	T	0.13	.	19.8115	0.96547	0.0:1.0:0.0:0.0	.	692	O15072	ATS3_HUMAN	Q	692	ENSP00000286657:E692Q	ENSP00000286657:E692Q	E	-	1	0	ADAMTS3	73394083	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.442000	0.80503	2.751000	0.94390	0.557000	0.71058	GAA		0.448	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			11	48	0	0	0	1	0	11	48				
SPAG4	6676	broad.mit.edu	37	20	34205117	34205117	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr20:34205117C>G	ENST00000374273.3	+	2	476	c.364C>G	c.(364-366)Ctg>Gtg	p.L122V	SPAG4_ENST00000462896.1_3'UTR	NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	122					spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|motile cilium (GO:0031514)	structural molecule activity (GO:0005198)			NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			GACCCTGGATCTGAGGCAGGA	0.652																																						ENST00000374273.3																			0				NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21						c.(364-366)Ctg>Gtg		sperm associated antigen 4							27.0	28.0	28.0					20																	34205117		2203	4300	6503	SO:0001583	missense	6676				spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity	g.chr20:34205117C>G	AF043344	CCDS13259.1	20q11.2	2010-04-23			ENSG00000061656	ENSG00000061656			11214	protein-coding gene	gene with protein product	"""acrosomal protein ACR55"", ""Sad1 and UNC84 domain containing 4"", ""cancer/testis antigen 127"""	603038				9691178, 10373309	Standard	NM_003116		Approved	SUN4, CT127	uc002xdb.1	Q9NPE6	OTTHUMG00000032352	ENST00000374273.3:c.364C>G	20.37:g.34205117C>G	ENSP00000363391:p.Leu122Val					SPAG4_ENST00000462896.1_3'UTR	p.L122V	NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0127)		2	476	+	Lung NSC(9;0.0053)|all_lung(11;0.00785)		122					O43648	Missense_Mutation	SNP	ENST00000374273.3	37	c.364C>G	CCDS13259.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.308534	0.40895	.	.	ENSG00000061656	ENST00000374273	T	0.20598	2.06	4.18	2.1	0.27182	.	1.469950	0.04246	N	0.337793	T	0.17323	0.0416	L	0.38838	1.175	0.27437	N	0.953832	B	0.19817	0.039	B	0.12837	0.008	T	0.27806	-1.0063	10	0.20519	T	0.43	-20.6926	6.6973	0.23205	0.1877:0.5475:0.2649:0.0	.	122	Q9NPE6	SPAG4_HUMAN	V	122	ENSP00000363391:L122V	ENSP00000363391:L122V	L	+	1	2	SPAG4	33668531	0.931000	0.31567	0.997000	0.53966	0.861000	0.49209	0.218000	0.17622	0.614000	0.30107	-0.314000	0.08810	CTG		0.652	SPAG4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078896.1	NM_003116		3	10	0	0	0	1	0	3	10				
YME1L1	10730	broad.mit.edu	37	10	27412521	27412521	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr10:27412521C>T	ENST00000326799.3	-	11	1376	c.1228G>A	c.(1228-1230)Gag>Aag	p.E410K	YME1L1_ENST00000376016.3_Missense_Mutation_p.E353K|YME1L1_ENST00000375972.3_Missense_Mutation_p.E320K|YME1L1_ENST00000463270.1_5'UTR	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	410					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						ACAAACATCTCATCAAATTCG	0.443																																						ENST00000326799.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1228-1230)Gag>Aag		YME1-like 1 ATPase							131.0	135.0	134.0					10																	27412521		2203	4300	6503	SO:0001583	missense	10730				protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	g.chr10:27412521C>T	AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"""ATPases / AAA-type"""	12843	protein-coding gene	gene with protein product		607472	"""YME1 (S.cerevisiae)-like 1"", ""YME1-like 1 (S. cerevisiae)"""			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.1228G>A	10.37:g.27412521C>T	ENSP00000318480:p.Glu410Lys					YME1L1_ENST00000376016.3_Missense_Mutation_p.E353K|YME1L1_ENST00000463270.1_5'UTR|YME1L1_ENST00000375972.3_Missense_Mutation_p.E320K	p.E410K	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN			11	1376	-			410					B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Missense_Mutation	SNP	ENST00000326799.3	37	c.1228G>A	CCDS7152.1	.	.	.	.	.	.	.	.	.	.	C	37	6.152287	0.97329	.	.	ENSG00000136758	ENST00000376016;ENST00000326799;ENST00000375969;ENST00000375972;ENST00000546122	T;T;T	0.79554	-1.28;-1.28;-1.28	6.01	6.01	0.97437	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);Peptidase M41, FtsH (2);	0.000000	0.85682	D	0.000000	D	0.86715	0.5999	L	0.39020	1.185	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.83275	0.995;0.992;0.996	D	0.86942	0.2080	10	0.87932	D	0	-14.7415	20.5211	0.99222	0.0:1.0:0.0:0.0	.	320;353;410	B4DNM1;Q96TA2-2;Q96TA2	.;.;YMEL1_HUMAN	K	353;410;410;320;156	ENSP00000365184:E353K;ENSP00000318480:E410K;ENSP00000365139:E320K	ENSP00000318480:E410K	E	-	1	0	YME1L1	27452527	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.802000	0.85969	2.861000	0.98227	0.650000	0.86243	GAG		0.443	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312		30	166	0	0	0	1	0	30	166				
SLC8A3	6547	broad.mit.edu	37	14	70633987	70633987	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr14:70633987C>T	ENST00000381269.2	-	2	1906	c.1153G>A	c.(1153-1155)Gag>Aag	p.E385K	SLC8A3_ENST00000528359.1_Missense_Mutation_p.E385K|SLC8A3_ENST00000357887.3_Missense_Mutation_p.E385K|SLC8A3_ENST00000534137.1_Missense_Mutation_p.E385K|SLC8A3_ENST00000356921.2_Missense_Mutation_p.E385K	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	385					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GTGTGCACCTCGCTCATGCTG	0.512																																						ENST00000381269.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54						c.(1153-1155)Gag>Aag		solute carrier family 8 (sodium/calcium exchanger), member 3							126.0	116.0	119.0					14																	70633987		2203	4300	6503	SO:0001583	missense	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70633987C>T	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1153G>A	14.37:g.70633987C>T	ENSP00000370669:p.Glu385Lys					SLC8A3_ENST00000356921.2_Missense_Mutation_p.E385K|SLC8A3_ENST00000357887.3_Missense_Mutation_p.E385K|SLC8A3_ENST00000534137.1_Missense_Mutation_p.E385K|SLC8A3_ENST00000528359.1_Missense_Mutation_p.E385K	p.E385K	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	2	1906	-			385					Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	c.1153G>A	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.764362	0.31228	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.36699	1.33;1.24;1.38;1.33;1.38	5.83	5.83	0.93111	Na-Ca exchanger/integrin-beta4 (1);	0.054654	0.64402	D	0.000001	T	0.55386	0.1917	L	0.55990	1.75	0.80722	D	1	P;P;D;D	0.61080	0.811;0.843;0.989;0.989	B;B;P;P	0.62740	0.146;0.228;0.906;0.874	T	0.44143	-0.9347	10	0.37606	T	0.19	.	20.1242	0.97973	0.0:1.0:0.0:0.0	.	385;385;385;385	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	K	385	ENSP00000349392:E385K;ENSP00000370669:E385K;ENSP00000350560:E385K;ENSP00000436688:E385K;ENSP00000433531:E385K	ENSP00000349392:E385K	E	-	1	0	SLC8A3	69703740	1.000000	0.71417	0.979000	0.43373	0.631000	0.37964	4.942000	0.63547	2.744000	0.94065	0.643000	0.83706	GAG		0.512	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			59	100	0	0	0	1	0	59	100				
ARHGAP39	80728	broad.mit.edu	37	8	145781002	145781002	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr8:145781002C>G	ENST00000276826.5	-	3	739	c.538G>C	c.(538-540)Gag>Cag	p.E180Q	ARHGAP39_ENST00000377307.2_Missense_Mutation_p.E180Q|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.E180Q			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	180					axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						TAGTCCTTCTCAAGGAACACT	0.468																																						ENST00000276826.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(538-540)Gag>Cag		Rho GTPase activating protein 39							133.0	115.0	121.0					8																	145781002		2203	4300	6503	SO:0001583	missense	80728				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145781002C>G		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	29351	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.538G>C	8.37:g.145781002C>G	ENSP00000276826:p.Glu180Gln					ARHGAP39_ENST00000377307.2_Missense_Mutation_p.E180Q|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.E180Q	p.E180Q			Q9C0H5	RHG39_HUMAN			3	739	-			180					B4E1I1	Missense_Mutation	SNP	ENST00000276826.5	37	c.538G>C		.	.	.	.	.	.	.	.	.	.	C	14.08	2.430122	0.43122	.	.	ENSG00000147799	ENST00000276826;ENST00000377307;ENST00000540274	T;T;T	0.23348	1.91;1.91;1.91	4.74	4.74	0.60224	.	0.758109	0.12624	N	0.452758	T	0.23766	0.0575	L	0.44542	1.39	0.29236	N	0.87293	P;P	0.51933	0.454;0.949	B;B	0.43301	0.15;0.415	T	0.03034	-1.1080	10	0.12766	T	0.61	-7.2066	13.6038	0.62035	0.0:1.0:0.0:0.0	.	180;180	Q9C0H5;Q9C0H5-2	RHG39_HUMAN;.	Q	180	ENSP00000276826:E180Q;ENSP00000366522:E180Q;ENSP00000445075:E180Q	ENSP00000276826:E180Q	E	-	1	0	ARHGAP39	145751810	0.985000	0.35326	0.942000	0.38095	0.994000	0.84299	3.544000	0.53640	2.345000	0.79718	0.655000	0.94253	GAG		0.468	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1			37	92	0	0	0	1	0	37	92				
MOV10L1	54456	broad.mit.edu	37	22	50598162	50598162	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr22:50598162G>C	ENST00000262794.5	+	24	3355	c.3272G>C	c.(3271-3273)gGa>gCa	p.G1091A	MOV10L1_ENST00000395858.3_Missense_Mutation_p.G1091A|MOV10L1_ENST00000540615.1_Missense_Mutation_p.G1071A|MOV10L1_ENST00000395852.1_Missense_Mutation_p.G218A|MOV10L1_ENST00000545383.1_Missense_Mutation_p.G1091A	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	1091					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		ATAAAGGTTGGATCAGTAGAG	0.413																																						ENST00000262794.5																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67						c.(3271-3273)gGa>gCa		Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)							166.0	156.0	160.0					22																	50598162		2203	4300	6503	SO:0001583	missense	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50598162G>C	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.3272G>C	22.37:g.50598162G>C	ENSP00000262794:p.Gly1091Ala					MOV10L1_ENST00000545383.1_Missense_Mutation_p.G1091A|MOV10L1_ENST00000540615.1_Missense_Mutation_p.G1071A|MOV10L1_ENST00000395852.1_Missense_Mutation_p.G218A|MOV10L1_ENST00000395858.3_Missense_Mutation_p.G1091A	p.G1091A	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	24	3355	+		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)	1091					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	c.3272G>C	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	.	17.22	3.333774	0.60853	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615;ENST00000395852	D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82	5.36	5.36	0.76844	.	0.096157	0.64402	D	0.000001	D	0.90494	0.7022	L	0.52011	1.625	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.997;0.996;0.999;0.999	D	0.90987	0.4832	10	0.62326	D	0.03	-35.999	17.8849	0.88851	0.0:0.0:1.0:0.0	.	1071;218;1091;1091	F5H403;Q9BXT6-2;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	A	1091;1091;1091;1071;218	ENSP00000438978:G1091A;ENSP00000262794:G1091A;ENSP00000379199:G1091A;ENSP00000438542:G1071A;ENSP00000379193:G218A	ENSP00000262794:G1091A	G	+	2	0	MOV10L1	48940289	1.000000	0.71417	0.776000	0.31678	0.200000	0.23975	8.837000	0.92110	2.499000	0.84300	0.544000	0.68410	GGA		0.413	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		24	87	0	0	0	1	0	24	87				
COL12A1	1303	broad.mit.edu	37	6	75865511	75865511	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr6:75865511G>A	ENST00000322507.8	-	16	3619	c.3310C>T	c.(3310-3312)Cga>Tga	p.R1104*	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Nonsense_Mutation_p.R1104*|COL12A1_ENST00000483888.2_Nonsense_Mutation_p.R1104*	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1104	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.R1104R(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CAAGTCACTCGGAAGCTTGAC	0.458																																						ENST00000322507.8																			1	Substitution - coding silent(1)	p.R1104R(1)	lung(1)	breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(3310-3312)Cga>Tga		collagen, type XII, alpha 1							103.0	106.0	105.0					6																	75865511		1830	4087	5917	SO:0001587	stop_gained	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75865511G>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.3310C>T	6.37:g.75865511G>A	ENSP00000325146:p.Arg1104*					COL12A1_ENST00000483888.2_Nonsense_Mutation_p.R1104*|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Nonsense_Mutation_p.R1104*	p.R1104*	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			16	3619	-			1104			Fibronectin type-III 8.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Nonsense_Mutation	SNP	ENST00000322507.8	37	c.3310C>T	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	G	41	9.120893	0.99073	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	.	.	.	5.44	3.36	0.38483	.	0.200426	0.34268	N	0.004110	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.0761	0.80969	0.0:0.0:0.6692:0.3308	.	.	.	.	X	1104	.	ENSP00000325146:R1104X	R	-	1	2	COL12A1	75922231	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.589000	0.23939	1.406000	0.46857	0.650000	0.86243	CGA		0.458	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		21	138	0	0	0	1	0	21	138				
PIK3C2A	5286	broad.mit.edu	37	11	17113797	17113797	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr11:17113797C>T	ENST00000265970.7	-	28	4477	c.4478G>A	c.(4477-4479)aGa>aAa	p.R1493K	PIK3C2A_ENST00000540361.1_Missense_Mutation_p.R1113K|PIK3C2A_ENST00000531428.1_5'UTR	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1493	Interaction with PtdIns(4,5)P2-containing membranes.|PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						TATGTGTGTTCTTCCTAGAAC	0.318																																						ENST00000265970.7																			0				central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(4477-4479)aGa>aAa		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	Phosphatidylserine(DB00144)						107.0	100.0	103.0					11																	17113797		2199	4293	6492	SO:0001583	missense	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17113797C>T	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.4478G>A	11.37:g.17113797C>T	ENSP00000265970:p.Arg1493Lys					PIK3C2A_ENST00000531428.1_5'UTR|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.R1113K	p.R1493K	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN			28	4477	-			1493			Interaction with PtdIns(4,5)P2-containing membranes.|PX.		B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	c.4478G>A	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	C	34	5.331963	0.95733	.	.	ENSG00000011405	ENST00000265970;ENST00000540361	T;T	0.39592	1.07;1.07	5.85	5.85	0.93711	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.67979	0.2951	M	0.79258	2.445	0.80722	D	1	D;D	0.69078	0.994;0.997	D;D	0.79108	0.944;0.992	T	0.67325	-0.5699	10	0.51188	T	0.08	-20.6644	20.1766	0.98178	0.0:1.0:0.0:0.0	.	1113;1493	F5H2B0;O00443	.;P3C2A_HUMAN	K	1493;1113	ENSP00000265970:R1493K;ENSP00000438687:R1113K	ENSP00000265970:R1493K	R	-	2	0	PIK3C2A	17070373	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.772000	0.85439	2.772000	0.95346	0.655000	0.94253	AGA		0.318	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		8	42	0	0	0	1	0	8	42				
DGCR8	54487	broad.mit.edu	37	22	20074700	20074700	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr22:20074700G>T	ENST00000351989.3	+	3	1165	c.736G>T	c.(736-738)Gat>Tat	p.D246Y	MIR3618_ENST00000580330.1_RNA|MIR1306_ENST00000408439.1_RNA|DGCR8_ENST00000383024.2_Missense_Mutation_p.D246Y|DGCR8_ENST00000407755.1_Missense_Mutation_p.D246Y	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	246	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.			DDFDNDV -> VCWQPLL (in Ref. 6; AAF82263). {ECO:0000305}.	gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					CTTTGACAACGATGTGGATGC	0.537																																						ENST00000351989.3																			0				NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(736-738)Gat>Tat		DGCR8 microprocessor complex subunit							173.0	157.0	162.0					22																	20074700		2203	4300	6503	SO:0001583	missense	54487				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	g.chr22:20074700G>T	AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"""chromosome 22 open reading frame 12"", ""DiGeorge syndrome critical region gene 8"""	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.736G>T	22.37:g.20074700G>T	ENSP00000263209:p.Asp246Tyr					DGCR8_ENST00000407755.1_Missense_Mutation_p.D246Y|DGCR8_ENST00000383024.2_Missense_Mutation_p.D246Y	p.D246Y	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN			3	1165	+	Colorectal(54;0.0993)		246	DDFDNDV -> VCWQPLL (in Ref. 6; AAF82263).		Necessary for interaction with NCL.|Necessary for nuclear localization and retention.		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	ENST00000351989.3	37	c.736G>T	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	G	31	5.096307	0.94197	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	T;T;T	0.46063	0.99;0.88;0.88	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.65719	0.2718	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72982	0.979;0.952	T	0.65372	-0.6184	10	0.87932	D	0	-18.2454	20.1743	0.98175	0.0:0.0:1.0:0.0	.	246;246	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	Y	246	ENSP00000263209:D246Y;ENSP00000372488:D246Y;ENSP00000384726:D246Y	ENSP00000263209:D246Y	D	+	1	0	DGCR8	18454700	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.444000	0.97578	2.873000	0.98535	0.561000	0.74099	GAT		0.537	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1			41	125	1	0	3.4345e-17	1	3.65608e-17	41	125				
TRBV5-4	28611	broad.mit.edu	37	7	142168862	142168862	+	RNA	SNP	A	A	G			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr7:142168862A>G	ENST00000454561.2	-	0	183									T cell receptor beta variable 5-4																		TGGGCCAGGCAGCACTGCACC	0.597																																						ENST00000454561.2																			0																				28.0	28.0	28.0					7																	142168862		1933	4131	6064			28611							g.chr7:142168862A>G	L36092		7q34	2012-02-07			ENSG00000230099	ENSG00000230099		"""T cell receptors / TRB locus"""	12221	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV54, TCRBV5S4, TCRBV5S6A3N2T			OTTHUMG00000158524		7.37:g.142168862A>G														0	183	-									RNA	SNP	ENST00000454561.2	37																																																																																						0.597	TRBV5-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351230.2	NG_001333		5	27	0	0	0	1	0	5	27				
RP1	6101	broad.mit.edu	37	8	55534103	55534103	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr8:55534103C>T	ENST00000220676.1	+	2	725	c.577C>T	c.(577-579)Cgc>Tgc	p.R193C		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	193	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGTCATGCAGCGCCCTGTGGT	0.587																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(577-579)Cgc>Tgc		retinitis pigmentosa 1 (autosomal dominant)							120.0	123.0	122.0					8																	55534103		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55534103C>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.577C>T	8.37:g.55534103C>T	ENSP00000220676:p.Arg193Cys						p.R193C	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		2	725	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	193			Doublecortin 2.			Missense_Mutation	SNP	ENST00000220676.1	37	c.577C>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.275673	0.23307	.	.	ENSG00000104237	ENST00000427058;ENST00000220676	D	0.91740	-2.9	5.14	1.52	0.23074	Doublecortin domain (5);	1.393490	0.04355	N	0.356450	D	0.85031	0.5604	N	0.14661	0.345	0.30465	N	0.773896	B;B	0.10296	0.001;0.003	B;B	0.06405	0.001;0.002	T	0.72966	-0.4131	10	0.38643	T	0.18	13.0175	8.239	0.31650	0.0:0.2389:0.0:0.7611	.	3;193	E7EVW9;P56715	.;RP1_HUMAN	C	3;193	ENSP00000220676:R193C	ENSP00000220676:R193C	R	+	1	0	RP1	55696656	1.000000	0.71417	0.004000	0.12327	0.554000	0.35429	4.134000	0.57990	0.021000	0.15133	-0.312000	0.09012	CGC		0.587	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		37	217	0	0	0	1	0	37	217				
FBXL13	222235	broad.mit.edu	37	7	102553619	102553619	+	Missense_Mutation	SNP	G	G	A	rs370558905		TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr7:102553619G>A	ENST00000313221.4	-	11	1348	c.922C>T	c.(922-924)Cgg>Tgg	p.R308W	FBXL13_ENST00000379308.3_Missense_Mutation_p.R308W|FBXL13_ENST00000455112.2_Missense_Mutation_p.R308W|FBXL13_ENST00000436908.1_Missense_Mutation_p.R308W|FBXL13_ENST00000393772.2_Missense_Mutation_p.R308W|LRRC17_ENST00000339431.4_Intron|LRRC17_ENST00000249377.4_Intron|FBXL13_ENST00000456695.1_Missense_Mutation_p.R308W|FBXL13_ENST00000379305.3_Missense_Mutation_p.R308W|FBXL13_ENST00000379306.3_Missense_Mutation_p.R308W	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	308										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TCTGTGAACCGTCTGCAATAA	0.438																																						ENST00000393772.2																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						c.(922-924)Cgg>Tgg		F-box and leucine-rich repeat protein 13							142.0	129.0	133.0					7																	102553619		2203	4300	6503	SO:0001583	missense	222235							g.chr7:102553619G>A	BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"""F-boxes / Leucine-rich repeats"""	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.922C>T	7.37:g.102553619G>A	ENSP00000321927:p.Arg308Trp					FBXL13_ENST00000313221.4_Missense_Mutation_p.R308W|FBXL13_ENST00000379308.3_Missense_Mutation_p.R308W|FBXL13_ENST00000379306.3_Missense_Mutation_p.R308W|FBXL13_ENST00000379305.3_Missense_Mutation_p.R308W|FBXL13_ENST00000436908.1_Missense_Mutation_p.R308W|LRRC17_ENST00000249377.4_Intron|FBXL13_ENST00000456695.1_Missense_Mutation_p.R308W|LRRC17_ENST00000339431.4_Intron|FBXL13_ENST00000455112.2_Missense_Mutation_p.R308W	p.R308W			Q8NEE6	FXL13_HUMAN			11	1348	-			308					C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Missense_Mutation	SNP	ENST00000313221.4	37	c.922C>T	CCDS5726.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.299451	0.60195	.	.	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000379306;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000456695;ENST00000455112	T;T;T;T;T;T;T;T	0.03553	4.25;4.25;3.89;4.25;4.25;4.25;3.89;4.25	5.43	3.03	0.35002	.	0.275088	0.33515	N	0.004832	T	0.12646	0.0307	M	0.74258	2.255	0.80722	D	1	D;D;D;D	0.71674	0.987;0.998;0.986;0.994	P;P;P;P	0.61397	0.663;0.888;0.599;0.846	T	0.00338	-1.1806	10	0.72032	D	0.01	.	8.5842	0.33649	0.0:0.0676:0.1313:0.801	.	308;308;308;308	Q8NEE6-3;Q8NEE6-4;Q8NEE6-2;Q8NEE6	.;.;.;FXL13_HUMAN	W	308	ENSP00000377367:R308W;ENSP00000368610:R308W;ENSP00000368608:R308W;ENSP00000368607:R308W;ENSP00000388608:R308W;ENSP00000321927:R308W;ENSP00000409716:R308W;ENSP00000391550:R308W	ENSP00000321927:R308W	R	-	1	2	FBXL13	102340855	1.000000	0.71417	0.998000	0.56505	0.784000	0.44337	2.916000	0.48813	0.494000	0.27859	-1.152000	0.01820	CGG		0.438	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1	NM_145032		20	47	0	0	0	1	0	20	47				
ZBTB46	140685	broad.mit.edu	37	20	62421836	62421836	+	Nonsense_Mutation	SNP	G	G	C			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr20:62421836G>C	ENST00000245663.4	-	2	425	c.275C>G	c.(274-276)tCa>tGa	p.S92*	ZBTB46_ENST00000395104.1_Nonsense_Mutation_p.S92*|ZBTB46_ENST00000480766.1_5'Flank|ZBTB46_ENST00000302995.2_Nonsense_Mutation_p.S92*	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	92	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CAGGTGCGCTGAGTACATGAA	0.607																																						ENST00000245663.4																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(274-276)tCa>tGa		zinc finger and BTB domain containing 46							68.0	58.0	62.0					20																	62421836		2203	4300	6503	SO:0001587	stop_gained	140685				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr20:62421836G>C	AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16094	protein-coding gene	gene with protein product	"""BTB-ZF protein expressed in effector lymphocytes"""	614639	"""BTB (POZ) domain containing 4"""	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.275C>G	20.37:g.62421836G>C	ENSP00000245663:p.Ser92*					ZBTB46_ENST00000302995.2_Nonsense_Mutation_p.S92*|ZBTB46_ENST00000395104.1_Nonsense_Mutation_p.S92*	p.S92*	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN			2	425	-	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)		92			BTB.		E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Nonsense_Mutation	SNP	ENST00000245663.4	37	c.275C>G	CCDS13538.1	.	.	.	.	.	.	.	.	.	.	G	38	6.968144	0.97971	.	.	ENSG00000130584	ENST00000245663;ENST00000302995;ENST00000395104	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.6368	0.91382	0.0:0.0:1.0:0.0	.	.	.	.	X	92	.	ENSP00000245663:S92X	S	-	2	0	ZBTB46	61892280	1.000000	0.71417	0.959000	0.39883	0.705000	0.40729	9.697000	0.98697	2.655000	0.90218	0.655000	0.94253	TCA		0.607	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080232.2	NM_025224		19	89	0	0	0	1	0	19	89				
VPS33A	65082	broad.mit.edu	37	12	122745861	122745861	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr12:122745861G>A	ENST00000267199.4	-	4	542	c.430C>T	c.(430-432)Ctc>Ttc	p.L144F	RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.L144F|VPS33A_ENST00000542310.1_5'UTR|VPS33A_ENST00000451053.2_Missense_Mutation_p.L144F	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	144					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of developmental pigmentation (GO:0048070)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		AATGGAATGAGATCTAAGCTG	0.453																																						ENST00000267199.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28						c.(430-432)Ctc>Ttc		vacuolar protein sorting 33 homolog A (S. cerevisiae)							124.0	108.0	113.0					12																	122745861		2203	4300	6503	SO:0001583	missense	65082				lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	g.chr12:122745861G>A	AK026048	CCDS9231.1	12q24.31	2008-06-23	2006-04-04		ENSG00000139719	ENSG00000139719			18179	protein-coding gene	gene with protein product		610034	"""vacuolar protein sorting 33A (yeast)"""			11250079	Standard	NM_022916		Approved		uc001ucd.3	Q96AX1	OTTHUMG00000168920	ENST00000267199.4:c.430C>T	12.37:g.122745861G>A	ENSP00000267199:p.Leu144Phe					VPS33A_ENST00000451053.2_Missense_Mutation_p.L144F|RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.L144F|VPS33A_ENST00000542310.1_5'UTR	p.L144F	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)	4	542	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		144					Q547V4|Q9H5Q0	Missense_Mutation	SNP	ENST00000267199.4	37	c.430C>T	CCDS9231.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.610750	0.28712	.	.	ENSG00000139719	ENST00000267199;ENST00000451053	T;T	0.72615	-0.67;-0.67	5.29	5.29	0.74685	.	0.134244	0.51477	D	0.000091	T	0.55625	0.1932	N	0.16656	0.425	0.58432	D	0.999999	B;B	0.29432	0.244;0.022	B;B	0.29176	0.099;0.02	T	0.53387	-0.8446	10	0.09590	T	0.72	-10.9264	19.2838	0.94063	0.0:0.0:1.0:0.0	.	144;144	F5H6Y0;Q96AX1	.;VP33A_HUMAN	F	144	ENSP00000267199:L144F;ENSP00000442951:L144F	ENSP00000446319:L144F	L	-	1	0	VPS33A	121311814	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	4.825000	0.62708	2.647000	0.89833	0.561000	0.74099	CTC		0.453	VPS33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401607.2			31	45	0	0	0	1	0	31	45				
TRMT61B	55006	broad.mit.edu	37	2	29092577	29092577	+	Missense_Mutation	SNP	G	G	T	rs7583228		TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr2:29092577G>T	ENST00000306108.5	-	1	590	c.567C>A	c.(565-567)ttC>ttA	p.F189L		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	189					mitochondrial tRNA methylation (GO:0070901)|protein homooligomerization (GO:0051260)	mitochondrion (GO:0005739)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						CGATCTTGCCGAACGGGACTG	0.468																																						ENST00000306108.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						c.(565-567)ttC>ttA		tRNA methyltransferase 61 homolog B (S. cerevisiae)							88.0	95.0	92.0					2																	29092577		2203	4300	6503	SO:0001583	missense	55006						tRNA (adenine-N1-)-methyltransferase activity	g.chr2:29092577G>T	BC010365	CCDS1768.1	2p23.2	2009-01-09			ENSG00000171103	ENSG00000171103			26070	protein-coding gene	gene with protein product						11230166	Standard	NM_017910		Approved	FLJ20628	uc002rmm.3	Q9BVS5	OTTHUMG00000128433	ENST00000306108.5:c.567C>A	2.37:g.29092577G>T	ENSP00000302801:p.Phe189Leu						p.F189L	NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN			1	590	-			189					Q9H0Q9|Q9NWS7	Missense_Mutation	SNP	ENST00000306108.5	37	c.567C>A	CCDS1768.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.575445	0.45902	.	.	ENSG00000171103	ENST00000306108	T	0.20069	2.1	5.5	4.63	0.57726	.	0.523162	0.17713	N	0.164504	T	0.17704	0.0425	N	0.12471	0.22	0.24889	N	0.992173	B;P	0.49783	0.008;0.928	B;P	0.47705	0.026;0.555	T	0.07770	-1.0755	10	0.38643	T	0.18	.	14.2514	0.66023	0.0717:0.0:0.9283:0.0	.	189;189	F8WDR2;Q9BVS5	.;TR61B_HUMAN	L	189	ENSP00000302801:F189L	ENSP00000302801:F189L	F	-	3	2	TRMT61B	28946081	1.000000	0.71417	0.632000	0.29296	0.886000	0.51366	4.895000	0.63214	1.335000	0.45486	0.561000	0.74099	TTC		0.468	TRMT61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250224.1	NM_017910		39	68	1	0	2.19489e-29	1	2.39839e-29	39	68				
GTPBP1	9567	broad.mit.edu	37	22	39124110	39124110	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr22:39124110G>C	ENST00000216044.5	+	10	1893	c.1660G>C	c.(1660-1662)Gac>Cac	p.D554H		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	554					GTP catabolic process (GO:0006184)|immune response (GO:0006955)|positive regulation of mRNA catabolic process (GO:0061014)|signal transduction (GO:0007165)	cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					CCTGCACATAGACCAGCGGCT	0.602																																						ENST00000216044.5																			0				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18						c.(1660-1662)Gac>Cac		GTP binding protein 1							120.0	82.0	95.0					22																	39124110		2203	4300	6503	SO:0001583	missense	9567				immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity	g.chr22:39124110G>C	U87964	CCDS13977.2	22q13.1	2008-07-01			ENSG00000100226	ENSG00000100226			4669	protein-coding gene	gene with protein product		602245				9070279	Standard	XM_005261857		Approved	GP-1, HSPC018	uc003awg.3	O00178	OTTHUMG00000151002	ENST00000216044.5:c.1660G>C	22.37:g.39124110G>C	ENSP00000216044:p.Asp554His						p.D554H	NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN			10	1893	+	Melanoma(58;0.04)		554					Q6IC67	Missense_Mutation	SNP	ENST00000216044.5	37	c.1660G>C	CCDS13977.2	.	.	.	.	.	.	.	.	.	.	G	32	5.147764	0.94603	.	.	ENSG00000100226	ENST00000216044;ENST00000458073	T	0.34472	1.36	5.75	5.75	0.90469	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (1);Translation elongation factor EFTu/EF1A, C-terminal (1);	0.043108	0.85682	D	0.000000	T	0.59609	0.2206	M	0.63843	1.955	0.80722	D	1	D	0.64830	0.994	D	0.67382	0.951	T	0.60052	-0.7338	10	0.87932	D	0	.	19.942	0.97168	0.0:0.0:1.0:0.0	.	554	O00178	GTPB1_HUMAN	H	554;132	ENSP00000216044:D554H	ENSP00000216044:D554H	D	+	1	0	GTPBP1	37454056	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.742000	0.85008	2.714000	0.92807	0.561000	0.74099	GAC		0.602	GTPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075532.1	NM_004286		7	44	0	0	0	1	0	7	44				
DCC	1630	broad.mit.edu	37	18	50912420	50912420	+	Missense_Mutation	SNP	T	T	G			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr18:50912420T>G	ENST00000442544.2	+	16	2983	c.2367T>G	c.(2365-2367)agT>agG	p.S789R	DCC_ENST00000412726.1_Missense_Mutation_p.S637R|DCC_ENST00000581580.1_Missense_Mutation_p.S444R	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	789	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CAGAGTCAAGTTCCCATTATG	0.343																																						ENST00000442544.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(2365-2367)agT>agG		deleted in colorectal carcinoma							100.0	94.0	96.0					18																	50912420		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50912420T>G	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.2367T>G	18.37:g.50912420T>G	ENSP00000389140:p.Ser789Arg					DCC_ENST00000412726.1_Missense_Mutation_p.S637R|DCC_ENST00000581580.1_Missense_Mutation_p.S444R	p.S789R	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	16	2983	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	789			Fibronectin type-III 4.			Missense_Mutation	SNP	ENST00000442544.2	37	c.2367T>G	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	T	11.95	1.790221	0.31685	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T;T	0.57907	0.37;0.41;0.37	6.17	3.81	0.43845	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.69133	0.3077	M	0.78801	2.425	0.41360	D	0.987423	D;D;D	0.63880	0.972;0.972;0.993	D;D;D	0.78314	0.914;0.914;0.991	T	0.69587	-0.5105	10	0.87932	D	0	.	8.3377	0.32224	0.0:0.2161:0.0:0.7839	.	637;637;789	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	R	789;722;637	ENSP00000389140:S789R;ENSP00000304146:S722R;ENSP00000397322:S637R	ENSP00000304146:S722R	S	+	3	2	DCC	49166418	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.231000	0.43009	0.568000	0.29311	-0.274000	0.10170	AGT		0.343	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		6	38	0	0	0	1	0	6	38				
HOXB13	10481	broad.mit.edu	37	17	46805632	46805632	+	Silent	SNP	C	C	T			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr17:46805632C>T	ENST00000290295.7	-	1	908	c.324G>A	c.(322-324)gcG>gcA	p.A108A	PRAC2_ENST00000422730.2_RNA	NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN	homeobox B13	108					angiogenesis (GO:0001525)|epidermis development (GO:0008544)|epithelial cell maturation involved in prostate gland development (GO:0060743)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|response to testosterone (GO:0033574)|response to wounding (GO:0009611)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						CCGCGGGGTACGCGGCCAGGG	0.647																																						ENST00000290295.7																			0				endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						c.(322-324)gcG>gcA		homeobox B13							56.0	68.0	64.0					17																	46805632		2203	4300	6503	SO:0001819	synonymous_variant	10481				angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46805632C>T	U57052	CCDS11536.1	17q21.32	2014-09-17	2005-12-22		ENSG00000159184	ENSG00000159184		"""Homeoboxes / ANTP class : HOXL subclass"""	5112	protein-coding gene	gene with protein product		604607	"""homeo box B13"""			8756292, 9665387	Standard	NM_006361		Approved		uc002ioa.3	Q92826	OTTHUMG00000159900	ENST00000290295.7:c.324G>A	17.37:g.46805632C>T							p.A108A	NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN			1	908	-			108					B2R878|Q96QM4|Q99810	Silent	SNP	ENST00000290295.7	37	c.324G>A	CCDS11536.1																																																																																				0.647	HOXB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358087.3	NM_006361		69	121	0	0	0	1	0	69	121				
OR7D4	125958	broad.mit.edu	37	19	9325150	9325150	+	Missense_Mutation	SNP	G	G	A	rs552376975		TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr19:9325150G>A	ENST00000308682.2	-	1	392	c.364C>T	c.(364-366)Cgg>Tgg	p.R122W		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						GCCACAAACCGGTCATAGGCC	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		20891	0.0		0.0	False		,,,				2504	0.001					ENST00000308682.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						c.(364-366)Cgg>Tgg		olfactory receptor, family 7, subfamily D, member 4							87.0	79.0	82.0					19																	9325150		2203	4300	6503	SO:0001583	missense	125958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9325150G>A		CCDS32901.1	19p13.2	2013-12-17		2004-03-10	ENSG00000174667	ENSG00000174667		"""GPCR / Class A : Olfactory receptors"""	8380	protein-coding gene	gene with protein product		611538		OR7D4P			Standard	NM_001005191		Approved	hg105, OR19-B	uc002mla.2	Q8NG98	OTTHUMG00000179936	ENST00000308682.2:c.364C>T	19.37:g.9325150G>A	ENSP00000310488:p.Arg122Trp						p.R122W	NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN			1	392	-			122					A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Missense_Mutation	SNP	ENST00000308682.2	37	c.364C>T	CCDS32901.1	.	.	.	.	.	.	.	.	.	.	G	9.590	1.125799	0.20959	.	.	ENSG00000174667	ENST00000308682	T	0.77620	-1.11	4.0	0.493	0.16878	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000036	T	0.81240	0.4781	H	0.97390	3.995	0.33784	D	0.62468	B	0.22211	0.066	B	0.08055	0.003	T	0.78301	-0.2257	10	0.87932	D	0	.	5.4796	0.16717	0.1815:0.0:0.6597:0.1588	.	122	Q8NG98	OR7D4_HUMAN	W	122	ENSP00000310488:R122W	ENSP00000310488:R122W	R	-	1	2	OR7D4	9186150	0.375000	0.25089	0.907000	0.35723	0.323000	0.28346	0.213000	0.17521	0.107000	0.17824	-0.436000	0.05848	CGG		0.502	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449004.1			31	79	0	0	0	1	0	31	79				
SPEN	23013	broad.mit.edu	37	1	16258342	16258342	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr1:16258342G>C	ENST00000375759.3	+	11	5811	c.5607G>C	c.(5605-5607)aaG>aaC	p.K1869N		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1869					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)		TGGAATTGAAGATGGAGGCAG	0.507																																						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.(5605-5607)aaG>aaC		spen family transcriptional repressor							69.0	75.0	73.0					1																	16258342		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.chr1:16258342G>C		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.5607G>C	1.37:g.16258342G>C	ENSP00000364912:p.Lys1869Asn						p.K1869N	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	5811	+		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)	1869					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.5607G>C	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.038263	0.35989	.	.	ENSG00000065526	ENST00000375759	T	0.12465	2.68	5.27	5.27	0.74061	.	.	.	.	.	T	0.29684	0.0741	M	0.65975	2.015	0.39982	D	0.974933	D	0.89917	1.0	D	0.64144	0.922	T	0.02288	-1.1182	9	0.45353	T	0.12	-21.861	9.3127	0.37915	0.1671:0.0:0.8329:0.0	.	1869	Q96T58	MINT_HUMAN	N	1869	ENSP00000364912:K1869N	ENSP00000364912:K1869N	K	+	3	2	SPEN	16130929	1.000000	0.71417	0.997000	0.53966	0.913000	0.54294	2.282000	0.43461	2.466000	0.83321	0.467000	0.42956	AAG		0.507	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		10	65	0	0	0	1	0	10	65				
HSF1	3297	broad.mit.edu	37	8	145534902	145534902	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr8:145534902G>C	ENST00000528838.1	+	5	691	c.531G>C	c.(529-531)caG>caC	p.Q177H	HSF1_ENST00000400780.4_Missense_Mutation_p.Q112H	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	177	Hydrophobic repeat HR-A/B.				cellular response to heat (GO:0034605)|defense response (GO:0006952)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|female meiotic division (GO:0007143)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)|response to lipopolysaccharide (GO:0032496)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pronucleus (GO:0045120)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|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)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	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;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			GCCTTCGGCAGAAGCATGCCC	0.662																																						ENST00000528838.1																			0				endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11						c.(529-531)caG>caC		heat shock transcription factor 1							20.0	21.0	21.0					8																	145534902		2203	4296	6499	SO:0001583	missense	3297					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:145534902G>C	M64673	CCDS6419.1	8q24.3	2014-04-10			ENSG00000185122	ENSG00000185122			5224	protein-coding gene	gene with protein product		140580				1871105	Standard	NM_005526		Approved	HSTF1	uc003zbt.4	Q00613	OTTHUMG00000174604	ENST00000528838.1:c.531G>C	8.37:g.145534902G>C	ENSP00000431512:p.Gln177His					HSF1_ENST00000400780.4_Missense_Mutation_p.Q112H	p.Q177H	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)		5	691	+	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)		177			Hydrophobic repeat HR-A/B.		A8K4L0|A8MW26|Q53XT4	Missense_Mutation	SNP	ENST00000528838.1	37	c.531G>C	CCDS6419.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.233817	0.79688	.	.	ENSG00000185122	ENST00000528838;ENST00000533240;ENST00000400780	.	.	.	5.22	3.39	0.38822	.	0.000000	0.85682	D	0.000000	T	0.75796	0.3898	M	0.78637	2.42	0.58432	D	0.999999	D	0.89917	1.0	D	0.72075	0.976	T	0.76743	-0.2847	9	0.51188	T	0.08	-11.0995	10.2601	0.43421	0.1737:0.0:0.8263:0.0	.	177	Q00613	HSF1_HUMAN	H	177;112;112	.	ENSP00000383590:Q112H	Q	+	3	2	HSF1	145505710	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.359000	0.59449	1.329000	0.45376	0.655000	0.94253	CAG		0.662	HSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382053.1	NM_005526		3	39	0	0	0	1	0	3	39				
SCN5A	6331	broad.mit.edu	37	3	38592386	38592386	+	Missense_Mutation	SNP	C	C	T	rs137854610		TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr3:38592386C>T	ENST00000333535.4	-	28	5626	c.5477G>A	c.(5476-5478)cGt>cAt	p.R1826H	SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000425664.1_Missense_Mutation_p.R1808H|SCN5A_ENST00000451551.2_Missense_Mutation_p.R1772H|SCN5A_ENST00000413689.1_Missense_Mutation_p.R1826H|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1825H|SCN5A_ENST00000414099.2_Missense_Mutation_p.R1808H|SCN5A_ENST00000455624.2_Missense_Mutation_p.R1793H|SCN5A_ENST00000450102.2_Missense_Mutation_p.R1772H|SCN5A_ENST00000443581.1_Missense_Mutation_p.R1825H|SCN5A_ENST00000449557.2_Missense_Mutation_p.R1772H			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1826			R -> C (in ATFB10). {ECO:0000269|PubMed:18378609}.|R -> H (in LQT3; sodium current characterized by slower decay and a 2- to 3-fold increase in late sodium current).		AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CTTGGCGATACGGAGTGGCTC	0.507																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	GRCh37	CM014389	SCN5A	M	rs137854610	c.(5476-5478)cGt>cAt		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4293		0,1,2146	70.0	76.0	74.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	5474,5477,5423,5378,5315,5477	4.8	0.8	3	dbSNP_133	74	1,8535		0,1,4267	no	missense,missense,missense,missense,missense,missense	SCN5A	NM_000335.4,NM_001099404.1,NM_001099405.1,NM_001160160.1,NM_001160161.1,NM_198056.2	29,29,29,29,29,29	0,2,6413	TT,TC,CC		0.0117,0.0233,0.0156	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	1825/2016,1826/2017,1808/1999,1793/1984,1772/1963,1826/2017	38592386	2,12828	2147	4268	6415	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38592386C>T	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.5477G>A	3.37:g.38592386C>T	ENSP00000328968:p.Arg1826His					SCN5A_ENST00000449557.2_Missense_Mutation_p.R1772H|SCN5A_ENST00000443581.1_Missense_Mutation_p.R1825H|SCN5A_ENST00000425664.1_Missense_Mutation_p.R1808H|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1825H|SCN5A_ENST00000414099.2_Missense_Mutation_p.R1808H|SCN5A_ENST00000333535.4_Missense_Mutation_p.R1826H|SCN5A_ENST00000455624.2_Missense_Mutation_p.R1793H|SCN5A_ENST00000451551.2_Missense_Mutation_p.R1772H|SCN5A_ENST00000450102.2_Missense_Mutation_p.R1772H	p.R1826H	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	28	5670	-	Medulloblastoma(35;0.163)		1826		R -> C (found in patients with atrial fibrillation).|R -> H (in LQT3; sodium current characterized by slower decay and a 2- to 3-fold increase in late sodium current).			A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.5477G>A	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.295159	0.81025	2.33E-4	1.17E-4	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.96300	-3.87;-3.9;-3.9;-3.94;-3.9;-3.87;-3.9;-3.97;-3.94;-3.94	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	D	0.98349	0.9452	M	0.88704	2.975	0.80722	A	1	P;D;D;D;D;P	0.89917	0.952;1.0;1.0;0.96;1.0;0.948	B;D;D;B;D;P	0.83275	0.259;0.991;0.981;0.388;0.996;0.592	D	0.98794	1.0737	9	0.52906	T	0.07	.	18.0868	0.89460	0.0:1.0:0.0:0.0	.	1772;1793;1808;1826;1825;1826	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	H	1808;1825;1826;1772;1825;1808;1826;1793;1772;1772	ENSP00000398962:R1808H;ENSP00000398266:R1825H;ENSP00000410257:R1826H;ENSP00000388797:R1772H;ENSP00000397915:R1825H;ENSP00000416634:R1808H;ENSP00000328968:R1826H;ENSP00000399524:R1793H;ENSP00000403355:R1772H;ENSP00000413996:R1772H	ENSP00000328968:R1826H	R	-	2	0	SCN5A	38567390	1.000000	0.71417	0.833000	0.33012	0.977000	0.68977	5.902000	0.69869	2.504000	0.84457	0.563000	0.77884	CGT		0.507	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		25	44	0	0	0	1	0	25	44				
SKIL	6498	broad.mit.edu	37	3	170078548	170078548	+	Silent	SNP	A	A	G			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr3:170078548A>G	ENST00000458537.3	+	1	1138	c.429A>G	c.(427-429)gaA>gaG	p.E143E	SKIL_ENST00000413427.2_Silent_p.E143E|SKIL_ENST00000426052.2_Silent_p.E123E|SKIL_ENST00000259119.4_Silent_p.E143E	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like proto-oncogene	143					blastocyst formation (GO:0001825)|cell cycle arrest (GO:0007050)|gene expression (GO:0010467)|lens fiber cell differentiation (GO:0070306)|lymphocyte homeostasis (GO:0002260)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of axonogenesis (GO:0050772)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|protein heterotrimerization (GO:0070208)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|response to antibiotic (GO:0046677)|response to cytokine (GO:0034097)|response to growth factor (GO:0070848)|skeletal muscle tissue development (GO:0007519)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			GCTCCACAGAACTCACTCAGA	0.468																																						ENST00000458537.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25						c.(427-429)gaA>gaG		SKI-like oncogene							167.0	177.0	173.0					3																	170078548		2203	4300	6503	SO:0001819	synonymous_variant	6498				cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity	g.chr3:170078548A>G	X15217	CCDS33890.1, CCDS46953.1, CCDS46954.1	3q26	2014-06-25	2014-06-25		ENSG00000136603	ENSG00000136603		"""SKI transcriptional corepressors"""	10897	protein-coding gene	gene with protein product		165340	"""SKI-like oncogene"""			2762147	Standard	NM_005414		Approved	SNO, SnoN, SnoA	uc003fgw.3	P12757	OTTHUMG00000158831	ENST00000458537.3:c.429A>G	3.37:g.170078548A>G						SKIL_ENST00000413427.2_Silent_p.E143E|SKIL_ENST00000259119.4_Silent_p.E143E|SKIL_ENST00000426052.2_Silent_p.E123E	p.E143E	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		1	1138	+	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		143					A6NGT1|B4DT50|O00464|P12756|Q07501	Silent	SNP	ENST00000458537.3	37	c.429A>G	CCDS33890.1																																																																																				0.468	SKIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352351.4	NM_005414		5	164	0	0	0	1	0	5	164				
CARS	833	broad.mit.edu	37	11	3022357	3022357	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr11:3022357C>G	ENST00000397111.5	-	22	2479	c.2234G>C	c.(2233-2235)gGa>gCa	p.G745A	CARS_ENST00000380525.4_Missense_Mutation_p.G828A|CARS_ENST00000278224.9_3'UTR|CARS_ENST00000401769.3_3'UTR|CARS_ENST00000470221.2_5'UTR|CARS_ENST00000397114.3_Missense_Mutation_p.G735A			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	745					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	CTGGAAGCTTCCATTCTGGGC	0.517			T	ALK	ALCL																																Ovarian(61;932 1157 5961 20446 52152)	ENST00000397114.3				Dom	yes		11	11p15.5	833	T	cysteinyl-tRNA synthetase			L	ALK		ALCL	CARS/ALK(5)	0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31						c.(2203-2205)gGa>gCa		cysteinyl-tRNA synthetase	L-Cysteine(DB00151)						166.0	151.0	156.0					11																	3022357		2202	4299	6501	SO:0001583	missense	833				cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding	g.chr11:3022357C>G	AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	1493	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 1, cytoplasmic"""	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.2234G>C	11.37:g.3022357C>G	ENSP00000380300:p.Gly745Ala					CARS_ENST00000380525.4_Missense_Mutation_p.G828A|CARS_ENST00000397111.5_Missense_Mutation_p.G745A|CARS_ENST00000278224.9_3'UTR|CARS_ENST00000401769.3_3'UTR|CARS_ENST00000470221.2_5'UTR	p.G735A			P49589	SYCC_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	23	2580	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	745					Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Missense_Mutation	SNP	ENST00000397111.5	37	c.2204G>C	CCDS7742.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.260265	0.39995	.	.	ENSG00000110619	ENST00000380525;ENST00000397111;ENST00000397114	T;T;T	0.46451	0.88;0.9;0.87	4.77	2.77	0.32553	.	0.156269	0.41605	D	0.000841	T	0.36413	0.0966	L	0.45422	1.42	0.80722	D	1	B;B;B	0.15719	0.004;0.014;0.01	B;B;B	0.21917	0.009;0.037;0.009	T	0.32903	-0.9889	10	0.51188	T	0.08	-16.5831	13.4152	0.60963	0.0:0.7008:0.2992:0.0	.	745;828;735	P49589;Q5HYE4;A8MVQ3	SYCC_HUMAN;.;.	A	828;745;735	ENSP00000369897:G828A;ENSP00000380300:G745A;ENSP00000380303:G735A	ENSP00000369897:G828A	G	-	2	0	CARS	2978933	0.992000	0.36948	0.016000	0.15963	0.048000	0.14542	3.029000	0.49712	1.184000	0.42957	0.655000	0.94253	GGA		0.517	CARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030117.4	NM_001751		18	103	0	0	0	1	0	18	103				
DST	667	broad.mit.edu	37	6	56482903	56482904	+	Frame_Shift_Ins	INS	-	-	AATG			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr6:56482903_56482904insAATG	ENST00000370765.6	-	23	6035_6036	c.5928_5929insCATT	c.(5926-5931)attacafs	p.T1977fs	DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000361203.3_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	0					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GACAGTCTTGTAATGGGGTTTG	0.426																																						ENST00000370765.6																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(5926-5931)atcaagfs		dystonin																																				SO:0001589	frameshift_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56482903_56482904insAATG	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.5925_5928dupCATT	6.37:g.56482904_56482907dupAATG	ENSP00000359801:p.Thr1977fs					DST_ENST00000446842.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000421834.2_Intron	p.K1977fs	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		23	6035_6036	-	Lung NSC(77;0.103)		1376					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Frame_Shift_Ins	INS	ENST00000370765.6	37	c.5928_5929insCATT	CCDS4959.1																																																																																				0.426	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		10	70						10	70	---	---	---	---
XKR5	389610	broad.mit.edu	37	8	6673270	6673270	+	RNA	DEL	A	A	-	rs532596157		TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	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		4	4						4	4	---	---	---	---
CNTNAP3	79937	broad.mit.edu	37	9	39133068	39133068	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr9:39133068delG	ENST00000297668.6	-	13	2014	c.1941delC	c.(1939-1941)cccfs	p.P647fs	CNTNAP3_ENST00000358144.2_Frame_Shift_Del_p.P559fs|CNTNAP3_ENST00000377656.2_Frame_Shift_Del_p.P646fs|CNTNAP3_ENST00000377659.1_Frame_Shift_Del_p.P646fs|CNTNAP3_ENST00000323947.7_Frame_Shift_Del_p.P553fs	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	647	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GGTGCCCGCTGGGGGCACCTC	0.731																																						ENST00000297668.6																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24						c.(1939-1941)ccfs		contactin associated protein-like 3							4.0	5.0	5.0					9																	39133068		1437	2782	4219	SO:0001589	frameshift_variant	79937				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	g.chr9:39133068delG	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.1941delC	9.37:g.39133068delG	ENSP00000297668:p.Pro647fs					CNTNAP3_ENST00000377659.1_Frame_Shift_Del_p.P646fs|CNTNAP3_ENST00000358144.2_Frame_Shift_Del_p.P559fs|CNTNAP3_ENST00000377656.2_Frame_Shift_Del_p.P646fs|CNTNAP3_ENST00000323947.7_Frame_Shift_Del_p.P553fs	p.P647fs	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	13	2014	-			647			Fibrinogen C-terminal.		B1AMA0|Q9C0E9	Frame_Shift_Del	DEL	ENST00000297668.6	37	c.1941delC	CCDS6616.1																																																																																				0.731	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		2	4						2	4	---	---	---	---
HNRNPUL1	11100	broad.mit.edu	37	19	41800316	41800316	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr19:41800316delC	ENST00000392006.3	+	9	1513	c.1340delC	c.(1339-1341)tccfs	p.S447fs	HNRNPUL1_ENST00000593587.1_Frame_Shift_Del_p.S347fs|HNRNPUL1_ENST00000602130.1_Frame_Shift_Del_p.S447fs|HNRNPUL1_ENST00000378215.4_Frame_Shift_Del_p.S333fs|HNRNPUL1_ENST00000595018.1_Frame_Shift_Del_p.S347fs|HNRNPUL1_ENST00000263367.3_Frame_Shift_Del_p.S358fs|HNRNPUL1_ENST00000352456.3_Frame_Shift_Del_p.S347fs	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	447	Necessary for interaction with TP53.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						TCCAACCCTTCCAAGAAGTAC	0.522																																						ENST00000392006.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1339-1341)tcfs		heterogeneous nuclear ribonucleoprotein U-like 1							172.0	132.0	146.0					19																	41800316		2203	4300	6503	SO:0001589	frameshift_variant	11100				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding	g.chr19:41800316delC	AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"""E1B 55kDa associated protein 5"""	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.1340delC	19.37:g.41800316delC	ENSP00000375863:p.Ser447fs					HNRNPUL1_ENST00000593587.1_Frame_Shift_Del_p.S347fs|HNRNPUL1_ENST00000263367.3_Frame_Shift_Del_p.S358fs|HNRNPUL1_ENST00000378215.4_Frame_Shift_Del_p.S333fs|HNRNPUL1_ENST00000595018.1_Frame_Shift_Del_p.S347fs|HNRNPUL1_ENST00000602130.1_Frame_Shift_Del_p.S447fs|HNRNPUL1_ENST00000352456.3_Frame_Shift_Del_p.S347fs	p.S447fs	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN			9	1513	+			447			Necessary for interaction with TP53.		B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Frame_Shift_Del	DEL	ENST00000392006.3	37	c.1340delC	CCDS12576.1																																																																																				0.522	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463406.1	NM_144732, NM_007040		50	88						50	88	---	---	---	---
RP13-329D4.3	0	broad.mit.edu	37	20	26113543	26113543	+	lincRNA	DEL	A	A	-	rs375245697		TCGA-QK-A6IG-01A-11D-A31L-08	TCGA-QK-A6IG-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5406a-cdd5-48e7-b1d2-d88e9b21df91	f831eb20-90c5-4fcf-8e58-b001f302297c	g.chr20:26113543delA	ENST00000416563.1	-	0	250																											TCTTTGCCTTAACAACATTAT	0.363																																						ENST00000416563.1																			0																																																			0							g.chr20:26113543delA																													20.37:g.26113543delA														0	250	-									RNA	DEL	ENST00000416563.1	37																																																																																						0.363	RP13-329D4.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000078482.1			3	6						3	6	---	---	---	---
