#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_IsAdjacentToRepeatRegion	i_IsMicroSat	i_MUTSIG_Published_Results	i_Mutation_Status	i_NumberOfSatRepeats	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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_is_in_m2pon	i_refseq_mrna_id	i_secondary_variant_classification	i_site
AGAP6	414189	broad.mit.edu	37	10	51769519	51769519	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr10:51769519delA	ENST00000374056.4	+	7	1963	c.1565delA	c.(1564-1566)gaafs	p.E522fs	AGAP6_ENST00000412531.3_Frame_Shift_Del_p.E545fs			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	522	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						AGCATCTGGGAAGGGAGCAGC	0.527																																						ENST00000412531.3		NA																	0				NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						c.(1633-1635)gaafs		ArfGAP with GTPase domain, ankyrin repeat and PH domain 6																																				SO:0001589	frameshift_variant	414189				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51769519delA		CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23466	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 3"""	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.1565delA	10.37:g.51769519delA	ENSP00000363168:p.Glu522fs	True	False		Somatic	2				AGAP6_ENST00000374056.4_Frame_Shift_Del_p.E522fs	p.E545fs	NM_001077665.2	NP_001071133.2	WXS	Illumina HiSeq	Phase_I	C9IYN2	C9IYN2_HUMAN			8	1706	+			545						Frame_Shift_Del	DEL	ENST00000374056.4	37	c.1634delA																																																																																					0.527	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	NM_001077665		10:51769519
RBM4	5936	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000409406.1	+	2	1633_1653	c.856_876delGCTGCTGCTGCAGCAGCAGCC	c.(856-876)gctgctgctgcagcagcagccdel	p.AAAAAAA286del	RBM4_ENST00000396053.4_Intron|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM14-RBM4_ENST00000412278.2_In_Frame_Del_p.AAAAAAA261del			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	286	Interaction with TNPO3.|Poly-Ala.				cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615																																						ENST00000412278.2		NA																	0					NA						c.(781-801)gctgctgctgcagcagcagccdel																																						SO:0001651	inframe_deletion	0							g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.856_876delGCTGCTGCTGCAGCAGCAGCC	11.37:g.66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENSP00000386894:p.Ala286_Ala292del	True	False		Somatic	1				RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000398692.4_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000578778.1_Intron	p.AAAAAAA261del	NM_001198845.1	NP_001185774.1	WXS	Illumina HiSeq	Phase_I					2	876_896	+			NA					B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	In_Frame_Del	DEL	ENST00000409406.1	37	c.781_801delGCTGCTGCTGCAGCAGCAGCC	CCDS41676.1																																																																																				0.615	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334212.1	0	NM_002896		11:66411364
NBPF12	149013	broad.mit.edu	37	1	146459553	146459556	+	Frame_Shift_Del	DEL	GATA	GATA	-			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	GATA	GATA	-	-	GATA	GATA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr1:146459553_146459556delGATA	ENST00000442909.2	+	74	9630_9633	c.8794_8797delGATA	c.(8794-8799)gatagafs	p.DR2932fs	NBPF12_ENST00000537773.1_3'UTR|NBPF12_ENST00000309471.8_Intron|NBPF12_ENST00000446760.2_Intron|NBPF12_ENST00000446080.2_Intron			Q5TAG4	NBPFC_HUMAN	neuroblastoma breakpoint family, member 12	114						cytoplasm (GO:0005737)				ovary(2)	2						GGACTCACTGGATAGATGTTATTC	0.466																																						ENST00000442909.2		NA																	0				ovary(2)	2						c.(8794-8799)gatagafs		neuroblastoma breakpoint family, member 12																																				SO:0001589	frameshift_variant	149013							g.chr1:146459553_146459556delGATA	BG154169	CCDS72881.1	1q21.1	2013-01-17	2011-06-28	2011-06-28	ENSG00000186275	ENSG00000268043		"""neuroblastoma breakpoint family"""	24297	protein-coding gene	gene with protein product		608607	"""KIAA1245"""	KIAA1245		11948409	Standard	NM_001278141		Approved	COAS1		Q5TAG4	OTTHUMG00000043708	ENST00000442909.2:c.8794_8797delGATA	1.37:g.146459553_146459556delGATA	ENSP00000391116:p.Asp2932fs	False	False		Somatic	1				NBPF12_ENST00000309471.8_Intron|NBPF12_ENST00000446760.2_Intron|NBPF12_ENST00000446080.2_Intron|NBPF12_ENST00000537773.1_3'UTR	p.DR2932fs			WXS	Illumina HiSeq	Phase_I					74	9630_9633	+			NA					O95877	Frame_Shift_Del	DEL	ENST00000442909.2	37	c.8794_8797delGATA																																																																																					0.466	NBPF12-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000102086.3	0	XM_003119146		1:146459553
ZFHX3	463	broad.mit.edu	37	16	72991713	72991715	+	In_Frame_Del	DEL	CCA	CCA	-	rs4788682	byFrequency	TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	CCA	CCA	-	-	CCA	CCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr16:72991713_72991715delCCA	ENST00000268489.5	-	2	3002_3004	c.2330_2332delTGG	c.(2329-2334)gtggct>gct	p.V777del	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	777	Poly-Ala.		V -> A (in dbSNP:rs4788682). {ECO:0000269|PubMed:7592926}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.V777V(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gccgccgcagccaccgccgccgc	0.635																																						ENST00000268489.5		NA																	1	Substitution - coding silent(1)	p.V777V(1)	lung(1)	NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(2329-2334)gtggct>gct		zinc finger homeobox 3			,	1706,1886		582,542,672					,	5.5	0.1			17	4240,2792		1606,1028,882	no	coding,intron	ZFHX3	NM_006885.3,NM_001164766.1	,	2188,1570,1554	A1A1,A1R,RR		39.7042,47.4944,44.0324	,	,		5946,4678				SO:0001651	inframe_deletion	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72991713_72991715delCCA	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.2330_2332delTGG	16.37:g.72991713_72991715delCCA	ENSP00000268489:p.Val777del	False	False		Somatic	1				ZFHX3_ENST00000397992.5_Intron	p.V777del	NM_006885.3	NP_008816.3	WXS	Illumina HiSeq	Phase_I	Q15911	ZFHX3_HUMAN			2	3002_3004	-		Ovarian(137;0.13)	777		V -> A (in dbSNP:rs4788682).	Poly-Ala.		D3DWS8|O15101|Q13719	In_Frame_Del	DEL	ENST00000268489.5	37	c.2330_2332delTGG	CCDS10908.1																																																																																				0.635	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	0	NM_006885		16:72991713
NCOA3	8202	broad.mit.edu	37	20	46279864	46279866	+	In_Frame_Del	DEL	CAA	CAA	-	rs578139784|rs112826888|rs1132443	byFrequency	TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	CAA	CAA	-	-	CAA	CAA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr20:46279864_46279866delCAA	ENST00000371998.3	+	20	3981_3983	c.3790_3792delCAA	c.(3790-3792)caadel	p.Q1276del	NCOA3_ENST00000341724.6_In_Frame_Del_p.Q1202del|NCOA3_ENST00000372004.3_In_Frame_Del_p.Q1272del|NCOA3_ENST00000371997.3_In_Frame_Del_p.Q1267del			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1276	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						gcagcagcagcaacagcaacagc	0.567														844	0.16853	0.3699	0.098	5008	,	,		14322	0.0952		0.0795	False		,,,				2504	0.1135					ENST00000372004.3		NA																	0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(3778-3780)caadel		nuclear receptor coactivator 3																																				SO:0001651	inframe_deletion	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46279864_46279866delCAA	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3790_3792delCAA	20.37:g.46279864_46279866delCAA	ENSP00000361066:p.Gln1276del	True	False		Somatic	1				NCOA3_ENST00000341724.6_In_Frame_Del_p.Q1202del|NCOA3_ENST00000371998.3_In_Frame_Del_p.Q1276del|NCOA3_ENST00000371997.3_In_Frame_Del_p.Q1267del	p.Q1272del	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	WXS	Illumina HiSeq	Phase_I	Q9Y6Q9	NCOA3_HUMAN			20	3994_3996	+			1276			Acetyltransferase.|Poly-Gln.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	In_Frame_Del	DEL	ENST00000371998.3	37	c.3778_3780delCAA	CCDS13407.1																																																																																				0.567	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	0	NM_006534		20:46279864
HORMAD2	150280	broad.mit.edu	37	22	30518022	30518024	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	AGG	AGG	-	-	AGG	AGG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr22:30518022_30518024delAGG	ENST00000336726.6	+	10	993_995	c.638_640delAGG	c.(637-642)aaggag>aag	p.E214del	HORMAD2_ENST00000403975.1_In_Frame_Del_p.E214del	NM_152510.2	NP_689723.1	Q8N7B1	HORM2_HUMAN	HORMA domain containing 2	214	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.				meiotic nuclear division (GO:0007126)|meiotic sister chromatid cohesion (GO:0051177)	chromosome (GO:0005694)|nucleus (GO:0005634)				large_intestine(1)|lung(1)	2			Epithelial(10;0.125)			CTGTTTGACAAGGAGCCTATCAA	0.429																																						ENST00000336726.6		NA																	0				large_intestine(1)|lung(1)	2						c.(637-642)aaggag>aag		HORMA domain containing 2																																				SO:0001651	inframe_deletion	150280				meiosis|mitosis	chromosome|nucleus		g.chr22:30518022_30518024delAGG	AK098703	CCDS46683.1	22q12.2	2014-01-21			ENSG00000176635	ENSG00000176635			28383	protein-coding gene	gene with protein product						12477932	Standard	NM_152510		Approved	MGC26710, CT46.2	uc003agy.3	Q8N7B1	OTTHUMG00000150881	ENST00000336726.6:c.638_640delAGG	22.37:g.30518022_30518024delAGG	ENSP00000336984:p.Glu214del	False	False		Somatic	1				HORMAD2_ENST00000403975.1_In_Frame_Del_p.E214del	p.E214del	NM_152510.2	NP_689723.1	WXS	Illumina HiSeq	Phase_I	Q8N7B1	HORM2_HUMAN	Epithelial(10;0.125)		10	993_995	+			214			HORMA.		B5MEB2|Q8NHR2	In_Frame_Del	DEL	ENST00000336726.6	37	c.638_640delAGG	CCDS46683.1																																																																																				0.429	HORMAD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320416.2	0	NM_152510		22:30518022
AKR7A3	22977	broad.mit.edu	37	1	19615114	19615136	+	Frame_Shift_Del	DEL	TGCGGCGCTGGTGGGCGCGTCCA	TGCGGCGCTGGTGGGCGCGTCCA	-	rs552561219		TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	TGCGGCGCTGGTGGGCGCGTCCA	TGCGGCGCTGGTGGGCGCGTCCA	-	-	TGCGGCGCTGGTGGGCGCGTCCA	TGCGGCGCTGGTGGGCGCGTCCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr1:19615114_19615136delTGCGGCGCTGGTGGGCGCGTCCA	ENST00000361640.4	-	1	608_630	c.68_90delTGGACGCGCCCACCAGCGCCGCA	c.(67-90)atggacgcgcccaccagcgccgcafs	p.MDAPTSAA23fs		NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)	23					cellular aldehyde metabolic process (GO:0006081)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|electron carrier activity (GO:0009055)			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CGCGCGTGACTGCGGCGCTGGTGGGCGCGTCCATGCGGCGCCC	0.722																																						ENST00000361640.4		NA																	0				NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13						c.(67-90)atggacgcgcccaccagcgccgcafs		aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)				11,4179		0,11,2084						-1.4	0.0			14	63,8041		2,59,3991	no	frameshift	AKR7A3	NM_012067.2		2,70,6075	A1A1,A1R,RR		0.7774,0.2625,0.6019				74,12220				SO:0001589	frameshift_variant	22977				cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity	g.chr1:19615114_19615136delTGCGGCGCTGGTGGGCGCGTCCA	AF040639	CCDS193.1	1p36.13	2008-05-14			ENSG00000162482	ENSG00000162482		"""Aldo-keto reductases"""	390	protein-coding gene	gene with protein product		608477				10383892	Standard	NM_012067		Approved		uc001bbv.1	O95154	OTTHUMG00000002523	ENST00000361640.4:c.68_90delTGGACGCGCCCACCAGCGCCGCA	1.37:g.19615114_19615136delTGCGGCGCTGGTGGGCGCGTCCA	ENSP00000355377:p.Met23fs	True	False		Somatic	1					p.MDAPTSAA23fs	NM_012067.2	NP_036199.2	WXS	Illumina HiSeq	Phase_I	O95154	ARK73_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	608_630	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	23					Q86SR4|Q8IVN6|Q8N5V6|Q8TAX1|Q9NUC3	Frame_Shift_Del	DEL	ENST00000361640.4	37	c.68_90delTGGACGCGCCCACCAGCGCCGCA	CCDS193.1																																																																																				0.722	AKR7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007166.1	0	NM_012067		1:19615114
CSRNP1	64651	broad.mit.edu	37	3	39185116	39185117	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	AG	AG	-	-	AG	AG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr3:39185116_39185117delAG	ENST00000273153.5	-	5	1376_1377	c.1199_1200delCT	c.(1198-1200)tctfs	p.S400fs	CSRNP1_ENST00000514182.1_Frame_Shift_Del_p.S400fs	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	400					apoptotic process (GO:0006915)|face morphogenesis (GO:0060325)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)	nucleus (GO:0005634)	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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						CACCGAAGTCAGAGTCACTGAA	0.604																																						ENST00000273153.5		NA																	0				central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						c.(1198-1200)tctfs		cysteine-serine-rich nuclear protein 1																																				SO:0001589	frameshift_variant	64651				apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:39185116_39185117delAG	AB053121	CCDS2682.1	3p22	2009-04-17	2009-04-17	2009-04-17	ENSG00000144655	ENSG00000144655			14300	protein-coding gene	gene with protein product		606458	"""AXIN1 up-regulated 1"""	AXUD1		11526492, 17726538	Standard	NM_033027		Approved	URAX1, DKFZp566F164, FAM130B, TAIP-3	uc003cjg.3	Q96S65	OTTHUMG00000131293	ENST00000273153.5:c.1199_1200delCT	3.37:g.39185118_39185119delAG	ENSP00000273153:p.Ser400fs	False	False		Somatic	2				CSRNP1_ENST00000514182.1_Frame_Shift_Del_p.S400fs	p.S400fs	NM_033027.3	NP_149016.2	WXS	Illumina HiSeq	Phase_I	Q96S65	CSRN1_HUMAN			5	1376_1377	-			400					Q69YY5	Frame_Shift_Del	DEL	ENST00000273153.5	37	c.1199_1200delCT	CCDS2682.1																																																																																				0.604	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254061.1	0	NM_033027		3:39185116
MYLK	4638	broad.mit.edu	37	3	123419117	123419119	+	In_Frame_Del	DEL	TTC	TTC	-	rs372794395|rs72491150|rs549428862|rs75967604	byFrequency	TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	TTC	TTC	-	-	TTC	TTC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr3:123419117_123419119delTTC	ENST00000475616.1	-	15	3195_3197	c.3196_3198delGAA	c.(3196-3198)gaadel	p.E1066del	MYLK_ENST00000360772.3_In_Frame_Del_p.E1066del|MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000346322.5_In_Frame_Del_p.E997del|MYLK_ENST00000359169.1_In_Frame_Del_p.E1066del|MYLK_ENST00000360304.3_In_Frame_Del_p.E1066del			Q15746	MYLK_HUMAN	myosin light chain kinase	1066	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)	p.E1066K(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTTTCTTGAGTTCTTCTTTGCTA	0.527														760	0.151757	0.0212	0.0173	5008	,	,		22692	0.498		0.0139	False		,,,				2504	0.2086					ENST00000360772.3		NA																	1	Substitution - Missense(1)	p.E1066K(1)	urinary_tract(1)	NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(3196-3198)gaadel		myosin light chain kinase			,,,	107,4159		3,101,2029					,,,	3.0	1.0		dbSNP_131	266	124,8130		7,110,4010	no	coding,coding,coding,coding	MYLK	NM_053028.3,NM_053027.3,NM_053026.3,NM_053025.3	,,,	10,211,6039	A1A1,A1R,RR		1.5023,2.5082,1.845	,,,	,,,		231,12289				SO:0001651	inframe_deletion	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123419117_123419119delTTC	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.3196_3198delGAA	3.37:g.123419120_123419122delTTC	ENSP00000418335:p.Glu1066del	False	False		Somatic	2				MYLK_ENST00000475616.1_In_Frame_Del_p.E1066del|MYLK_ENST00000360304.3_In_Frame_Del_p.E1066del|MYLK_ENST00000359169.1_In_Frame_Del_p.E1066del|MYLK_ENST00000346322.5_In_Frame_Del_p.E997del	p.E1066del			WXS	Illumina HiSeq	Phase_I	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	19	3574_3576	-		Lung NSC(201;0.0496)	1066			Actin-binding (calcium/calmodulin- insensitive) (By similarity).		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	In_Frame_Del	DEL	ENST00000475616.1	37	c.3196_3198delGAA	CCDS46896.1																																																																																				0.527	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	0	NM_053025		3:123419117
MIR548I2	100302277	broad.mit.edu	37	4	9557816	9557821	+	RNA	DEL	AGAAGG	AGAAGG	-	rs111482845	byFrequency	TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	AGAAGG	AGAAGG	-	-	AGAAGG	AGAAGG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr4:9557816_9557821delAGAAGG	ENST00000408348.1	-	0	116_121					NR_031688.1				microRNA 548i-2																		GAACTTTGTTAGAAGGAGAAAAGATA	0.379														1768	0.353035	0.5711	0.3055	5008	,	,		20513	0.2956		0.2883	False		,,,				2504	0.2178					ENST00000408348.1		NA																	0					NA												1316,1898		338,640,629						0.1	0.0		dbSNP_132	163	1423,5627		193,1037,2295	no	intergenic				531,1677,2924	A1A1,A1R,RR		20.1844,40.9459,26.6855				2739,7525						0							g.chr4:9557816_9557821delAGAAGG			4p16.1	2011-09-12		2008-12-18	ENSG00000221275	ENSG00000221275		"""ncRNAs / Micro RNAs"""	35353	non-coding RNA	RNA, micro				MIRN548I2			Standard	NR_031688		Approved	hsa-mir-548i-2	uc021xlt.1				4.37:g.9557816_9557821delAGAAGG		False	False		Somatic	1						NR_031688.1		WXS	Illumina HiSeq	Phase_I					0	116_121	-			NA						RNA	DEL	ENST00000408348.1	37																																																																																						0.379	MIR548I2-201	KNOWN	basic	miRNA	miRNA		0	NR_031688		4:9557816
BTN2A1	11120	broad.mit.edu	37	6	26458905	26458906	+	In_Frame_Ins	INS	-	-	CTTCCTCCT	rs554227538|rs140375890	byFrequency	TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr6:26458905_26458906insCTTCCTCCT	ENST00000312541.5	+	2	289_290	c.41_42insCTTCCTCCT	c.(40-45)tccctc>tcCTTCCTCCTcctc	p.14_15SL>SFLLL	BTN2A1_ENST00000469185.1_In_Frame_Ins_p.14_15SL>SFLLL|BTN2A1_ENST00000429381.1_In_Frame_Ins_p.14_15SL>SFLLL|BTN2A1_ENST00000541522.1_Intron	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	14					lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						CGGCCAGCCTCCCTCCTCCTCC	0.584																																						ENST00000429381.1		NA																	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						c.(40-45)tccctc>tcCTTCCTCCTcctc		butyrophilin, subfamily 2, member A1																																				SO:0001652	inframe_insertion	11120				lipid metabolic process	integral to plasma membrane		g.chr6:26458905_26458906insCTTCCTCCT	U90543	CCDS4613.1, CCDS47390.1, CCDS56404.1, CCDS56405.1	6p22.1	2014-01-14			ENSG00000112763	ENSG00000112763		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1136	protein-coding gene	gene with protein product		613590				9382921, 9149941	Standard	NM_007049		Approved	BT2.1, BTF1, BTN2.1	uc003nib.2	Q7KYR7	OTTHUMG00000014457	Exception_encountered	6.37:g.26458905_26458906insCTTCCTCCT	ENSP00000312158:p.Ser14_Leu15insPheLeuLeu	True	False		Somatic	0				BTN2A1_ENST00000312541.5_In_Frame_Ins_p.14_15SL>SFLLL|BTN2A1_ENST00000541522.1_Intron|BTN2A1_ENST00000469185.1_In_Frame_Ins_p.14_15SL>SFLLL	p.14_15SL>SFLLL			WXS	Illumina HiSeq	Phase_I	Q7KYR7	BT2A1_HUMAN			2	253_254	+			14					B4DLP9|E9PGR4|O00475|P78408|Q59EN4|Q7KYQ7|Q7Z386|Q96AV7|Q9NU62	In_Frame_Ins	INS	ENST00000312541.5	37	c.41_42insCTTCCTCCT	CCDS4613.1																																																																																				0.584	BTN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040122.2	0	NM_007049		6:26458905
ZSCAN21	7589	broad.mit.edu	37	7	99662512	99662515	+	3'UTR	DEL	TAGT	TAGT	-	rs56833874|rs71689664|rs202229615|rs200297846|rs200795752|rs398111646	byFrequency	TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	TAGT	TAGT	-	-	TAGT	TAGT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr7:99662512_99662515delTAGT	ENST00000292450.4	+	0	1858_1861				ZSCAN21_ENST00000543588.1_3'UTR|ZNF3_ENST00000413658.2_Frame_Shift_Del_p.TT98fs|ZSCAN21_ENST00000456748.2_3'UTR	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21						positive regulation of transcription, DNA-templated (GO:0045893)|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(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			ACCTTTTGCGTAGTTAAACAGACG	0.407														1393	0.278155	0.1573	0.232	5008	,	,		19468	0.4067		0.2763	False		,,,				2504	0.3436					ENST00000413658.2		NA																	0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25						c.(292-297)actacgfs		zinc finger protein 3			,	697,3191		89,519,1336					,	-4.0	0.0		dbSNP_130	140	2233,5761		344,1545,2108	yes	utr-3,frameshift	ZNF3,ZSCAN21	NM_145914.2,NM_017715.2	,	433,2064,3444	A1A1,A1R,RR		27.9335,17.927,24.6591	,	,		2930,8952				SO:0001624	3_prime_UTR_variant	7551				cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99662512_99662515delTAGT	AL136865	CCDS5681.1	7q11.1	2013-01-08	2006-10-06	2006-10-06	ENSG00000166529	ENSG00000166529		"""-"", ""Zinc fingers, C2H2-type"""	13104	protein-coding gene	gene with protein product		601261	"""zinc finger protein 38 (KOX 25)"", ""zinc finger protein 38"""	ZNF38		2288909, 2014798	Standard	NM_145914		Approved	DKFZp434L134, NY-REN-21, Zipro1	uc003uso.3	Q9Y5A6	OTTHUMG00000154583	ENST00000292450.4:c.*275TAGT>-	7.37:g.99662512_99662515delTAGT		False	False		Somatic	1				ZSCAN21_ENST00000543588.1_3'UTR|ZSCAN21_ENST00000456748.2_3'UTR|ZSCAN21_ENST00000292450.4_3'UTR	p.TT98fs	NM_017715.2	NP_060185.2	WXS	Illumina HiSeq	Phase_I	P17036	ZNF3_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		6	581_584	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	0			KRAB.		A4D2A6|D6W5T9|Q9H0B5	Frame_Shift_Del	DEL	ENST00000292450.4	37	c.292_295delACTA	CCDS5681.1																																																																																				0.407	ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336166.1	0	NM_145914		7:99662512
KRT37	8688	broad.mit.edu	37	17	39577780	39577780	+	Silent	SNP	G	G	C	rs372151417		TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr17:39577780G>C	ENST00000225550.3	-	6	1079	c.1080C>G	c.(1078-1080)gcC>gcG	p.A360A	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	360	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				TCTGCATCTGGGCCAGCTCTG	0.572																																						ENST00000225550.3		NA																	0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25						c.(1078-1080)gcC>gcG		keratin 37							67.0	64.0	65.0					17																	39577780		2203	4300	6503	SO:0001819	synonymous_variant	8688					intermediate filament	structural molecule activity	g.chr17:39577780G>C	Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6455	protein-coding gene	gene with protein product		604541	"""keratin, hair, acidic, 7"""	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.1080C>G	17.37:g.39577780G>C		True	False		Somatic	0				AC003958.2_ENST00000432258.1_RNA	p.A360A	NM_003770.4	NP_003761.3	WXS	Illumina HiSeq	Phase_I	O76014	KRT37_HUMAN			6	1079	-		Breast(137;0.000496)	360			Coil 2.|Rod.			Silent	SNP	ENST00000225550.3	37	c.1080C>G	CCDS32653.1																																																																																				0.572	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257714.2	0	NM_003770		17:39577780
POM121	9883	broad.mit.edu	37	7	72413745	72413745	+	Silent	SNP	C	C	T	rs376762742		TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr7:72413745C>T	ENST00000434423.2	+	11	3213	c.3213C>T	c.(3211-3213)tcC>tcT	p.S1071S	POM121_ENST00000446813.1_Silent_p.S806S|POM121_ENST00000257622.4_Silent_p.S806S|POM121_ENST00000395270.1_Silent_p.S806S|POM121_ENST00000358357.3_Silent_p.S806S			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1071	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CCACCAGCTCCGGCTTTGGAG	0.657																																						ENST00000395270.1		NA																	0				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2416-2418)tcC>tcT		POM121 transmembrane nucleoporin							20.0	24.0	22.0					7																	72413745		2203	4297	6500	SO:0001819	synonymous_variant	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72413745C>T	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.3213C>T	7.37:g.72413745C>T		False	False		Somatic	0				POM121_ENST00000358357.3_Silent_p.S806S|POM121_ENST00000446813.1_Silent_p.S806S|POM121_ENST00000434423.2_Silent_p.S1071S|POM121_ENST00000257622.4_Silent_p.S806S	p.S806S	NM_001257190.1	NP_001244119.1	WXS	Illumina HiSeq	Phase_I	Q96HA1	P121A_HUMAN			14	3459	+		Lung NSC(55;0.163)	1071			Pore side (Potential).|Thr-rich.		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Silent	SNP	ENST00000434423.2	37	c.2418C>T																																																																																					0.657	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1	0			7:72413745
SEMA5B	54437	broad.mit.edu	37	3	122634365	122634365	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr3:122634365C>T	ENST00000357599.3	-	14	2296	c.1910G>A	c.(1909-1911)cGa>cAa	p.R637Q	SEMA5B_ENST00000451055.2_Missense_Mutation_p.R691Q|SEMA5B_ENST00000195173.4_Missense_Mutation_p.R637Q	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	637					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		ATCACAGGATCGAGCTCGACA	0.607																																						ENST00000195173.4		NA																	0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55						c.(1909-1911)cGa>cAa		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B							71.0	68.0	69.0					3																	122634365		2203	4300	6503	SO:0001583	missense	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122634365C>T	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.1910G>A	3.37:g.122634365C>T	ENSP00000350215:p.Arg637Gln	False	False		Somatic	0				SEMA5B_ENST00000357599.3_Missense_Mutation_p.R637Q|SEMA5B_ENST00000451055.2_Missense_Mutation_p.R691Q	p.R637Q			WXS	Illumina HiSeq	Phase_I	Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	14	2213	-			637					A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	c.1910G>A	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	C	34	5.335933	0.95758	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.25912	1.77;1.77;1.77;1.77	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.70307	0.3209	H	0.99074	4.42	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.84317	0.0514	10	0.87932	D	0	.	17.2003	0.86904	0.0:1.0:0.0:0.0	.	579;637;637	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	Q	637;637;579;691;637	ENSP00000350215:R637Q;ENSP00000195173:R637Q;ENSP00000389588:R691Q;ENSP00000377208:R637Q	ENSP00000195173:R637Q	R	-	2	0	SEMA5B	124117055	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	7.596000	0.82721	2.520000	0.84964	0.561000	0.74099	CGA		0.607	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	0	NM_001031702		3:122634365
REPIN1	29803	broad.mit.edu	37	7	150069256	150069256	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr7:150069256C>G	ENST00000425389.2	+	1	1004	c.926C>G	c.(925-927)tCt>tGt	p.S309C	REPIN1_ENST00000489432.2_Missense_Mutation_p.S366C|REPIN1_ENST00000444957.1_Missense_Mutation_p.S309C|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000540729.1_Missense_Mutation_p.S309C|REPIN1_ENST00000397281.2_Missense_Mutation_p.S309C	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	309					DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			AACCTGCTGTCTCACAGCAAG	0.701																																						ENST00000397281.2		NA																	0				cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						c.(925-927)tCt>tGt		replication initiator 1							10.0	13.0	12.0					7																	150069256		2112	4239	6351	SO:0001583	missense	29803				DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding	g.chr7:150069256C>G	AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"""Zinc fingers, C2H2-type"""	17922	protein-coding gene	gene with protein product	"""replication initiation region protein (60kD)"", ""zinc finger protein AP4"", ""zinc finger protein 464 (RIP60)"""		"""zinc finger protein 464 (RIP60)"""	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.926C>G	7.37:g.150069256C>G	ENSP00000388287:p.Ser309Cys	False	False		Somatic	0				REPIN1_ENST00000425389.2_Missense_Mutation_p.S309C|REPIN1_ENST00000444957.1_Missense_Mutation_p.S309C|REPIN1_ENST00000540729.1_Missense_Mutation_p.S309C|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000489432.2_Missense_Mutation_p.S366C|RP4-584D14.5_ENST00000488310.1_RNA	p.S309C	NM_013400.3	NP_037532.2	WXS	Illumina HiSeq	Phase_I	Q9BWE0	REPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		4	1415	+	Ovarian(565;0.183)|Melanoma(164;0.226)		309					C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Missense_Mutation	SNP	ENST00000425389.2	37	c.926C>G	CCDS43677.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.450922	0.43531	.	.	ENSG00000214022	ENST00000540729;ENST00000397281;ENST00000444957;ENST00000489432;ENST00000488943;ENST00000425389	T;T;T;T;T;T	0.61158	0.13;0.13;0.13;0.13;0.13;0.13	4.91	4.91	0.64330	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.55049	0.1896	N	0.08118	0	0.22354	N	0.99917	P;D	0.76494	0.553;0.999	B;D	0.69142	0.062;0.962	T	0.49062	-0.8978	9	0.52906	T	0.07	-6.4308	10.6565	0.45678	0.1909:0.8091:0.0:0.0	.	366;309	C9J3L7;Q9BWE0	.;REPI1_HUMAN	C	309;309;309;366;369;309	ENSP00000445016:S309C;ENSP00000380451:S309C;ENSP00000407714:S309C;ENSP00000417291:S366C;ENSP00000419872:S369C;ENSP00000388287:S309C	ENSP00000380451:S309C	S	+	2	0	REPIN1	149700189	0.000000	0.05858	0.995000	0.50966	0.986000	0.74619	-0.090000	0.11163	2.550000	0.86006	0.462000	0.41574	TCT		0.701	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376940.1	0	NM_014374		7:150069256
PTPRB	5787	broad.mit.edu	37	12	70965613	70965613	+	Missense_Mutation	SNP	C	C	T	rs201136742	byFrequency	TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr12:70965613C>T	ENST00000261266.5	-	10	2472	c.2443G>A	c.(2443-2445)Ggg>Agg	p.G815R	PTPRB_ENST00000551525.1_Missense_Mutation_p.G1032R|PTPRB_ENST00000550358.1_Missense_Mutation_p.G945R|PTPRB_ENST00000550857.1_Missense_Mutation_p.G725R|PTPRB_ENST00000334414.6_Missense_Mutation_p.G1033R|PTPRB_ENST00000538708.1_Missense_Mutation_p.G815R|PTPRB_ENST00000451516.2_Missense_Mutation_p.G725R	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	815	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CTTGTTCTCCCATTCCCTTGT	0.378													C|||	2	0.000399361	0.0	0.0	5008	,	,		20946	0.0		0.001	False		,,,				2504	0.001					ENST00000334414.6		NA																	0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(3097-3099)Ggg>Agg		protein tyrosine phosphatase, receptor type, B		C	ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY	0,3782		0,0,1891	176.0	173.0	174.0		3097,2173,2443,2443	4.9	1.0	12		174	2,8210		0,2,4104	yes	missense,missense,missense,missense	PTPRB	NM_001109754.2,NM_001206971.1,NM_001206972.1,NM_002837.4	125,125,125,125	0,2,5995	TT,TC,CC		0.0244,0.0,0.0167	probably-damaging,probably-damaging,probably-damaging,probably-damaging	1033/2216,725/1908,815/1908,815/1998	70965613	2,11992	1891	4106	5997	SO:0001583	missense	0				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70965613C>T	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.2443G>A	12.37:g.70965613C>T	ENSP00000261266:p.Gly815Arg	True	False		Somatic	0				PTPRB_ENST00000550358.1_Missense_Mutation_p.G945R|PTPRB_ENST00000550857.1_Missense_Mutation_p.G725R|PTPRB_ENST00000551525.1_Missense_Mutation_p.G1032R|PTPRB_ENST00000451516.2_Missense_Mutation_p.G725R|PTPRB_ENST00000261266.5_Missense_Mutation_p.G815R|PTPRB_ENST00000538708.1_Missense_Mutation_p.G815R	p.G1033R	NM_001109754.2	NP_001103224.1	WXS	Illumina HiSeq	Phase_I	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		12	3141	-	Renal(347;0.236)		815			Fibronectin type-III 12.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.3097G>A	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.719849	0.68844	0.0	2.44E-4	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.04862	4.04;4.03;4.01;4.05;4.03;4.08;3.54;3.58	5.96	4.9	0.64082	Fibronectin, type III (1);	0.105396	0.64402	D	0.000004	T	0.21921	0.0528	M	0.75777	2.31	0.48830	D	0.999717	D;D;D;D;D;D;D	0.71674	0.996;0.996;0.963;0.963;0.998;0.996;0.996	D;D;D;P;D;D;D	0.77557	0.99;0.99;0.914;0.884;0.99;0.967;0.976	T	0.01078	-1.1459	10	0.19590	T	0.45	.	14.3289	0.66541	0.0:0.9205:0.0:0.0795	.	725;815;912;1032;1033;815;945	P23467-2;F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;PTPRB_HUMAN;.	R	1033;725;945;815;725;815;1032;912	ENSP00000334928:G1033R;ENSP00000393028:G725R;ENSP00000448058:G945R;ENSP00000438927:G815R;ENSP00000447302:G725R;ENSP00000261266:G815R;ENSP00000448349:G1032R;ENSP00000446982:G912R	ENSP00000261266:G815R	G	-	1	0	PTPRB	69251880	1.000000	0.71417	0.967000	0.41034	0.981000	0.71138	4.846000	0.62860	2.832000	0.97577	0.655000	0.94253	GGG		0.378	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1	0			12:70965613
PKN1	5585	broad.mit.edu	37	19	14581423	14581423	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr19:14581423G>A	ENST00000242783.6	+	20	2638	c.2473G>A	c.(2473-2475)Gac>Aac	p.D825N	PKN1_ENST00000342216.4_Missense_Mutation_p.D831N	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	825	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						GGAGGTCTTCGACAGCATCGT	0.672																																					NSCLC(185;2539 2965 10733 52867)	ENST00000242783.6		NA																	0				breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						c.(2473-2475)Gac>Aac		protein kinase N1							20.0	24.0	22.0					19																	14581423		1995	4150	6145	SO:0001583	missense	5585				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding	g.chr19:14581423G>A	S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"""protein kinase C-like 1"""	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.2473G>A	19.37:g.14581423G>A	ENSP00000242783:p.Asp825Asn	False	False		Somatic	0				PKN1_ENST00000342216.4_Missense_Mutation_p.D831N	p.D825N	NM_002741.3	NP_002732.3	WXS	Illumina HiSeq	Phase_I	Q16512	PKN1_HUMAN			20	2638	+			825			Protein kinase.		A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Missense_Mutation	SNP	ENST00000242783.6	37	c.2473G>A	CCDS42513.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.392493	0.83011	.	.	ENSG00000123143	ENST00000242783;ENST00000342216	T;T	0.53206	0.63;0.63	4.18	4.18	0.49190	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	0.64402	U	0.000001	T	0.55194	0.1905	N	0.25992	0.78	0.47276	D	0.999378	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.60757	-0.7200	10	0.87932	D	0	-20.007	14.0135	0.64511	0.0:0.0:1.0:0.0	.	831;825	Q16512-2;Q16512	.;PKN1_HUMAN	N	825;831	ENSP00000242783:D825N;ENSP00000343325:D831N	ENSP00000242783:D825N	D	+	1	0	PKN1	14442423	1.000000	0.71417	0.977000	0.42913	0.569000	0.35902	9.037000	0.93765	2.177000	0.69029	0.555000	0.69702	GAC		0.672	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	0	NM_002741, NM_213560		19:14581423
ADAMTS12	81792	broad.mit.edu	37	5	33549440	33549440	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr5:33549440C>T	ENST00000504830.1	-	21	4509	c.4174G>A	c.(4174-4176)Gtg>Atg	p.V1392M	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.V1307M	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1392	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CGGCTGTCCACGCACTGAATC	0.562										HNSCC(64;0.19)																												ENST00000504830.1		NA																	0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(4174-4176)Gtg>Atg		ADAM metallopeptidase with thrombospondin type 1 motif, 12							86.0	95.0	92.0					5																	33549440		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33549440C>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4174G>A	5.37:g.33549440C>T	ENSP00000422554:p.Val1392Met	False	False	HNSCC(64;0.19)	Somatic	0				ADAMTS12_ENST00000352040.3_Missense_Mutation_p.V1307M	p.V1392M	NM_030955.2	NP_112217.2	WXS	Illumina HiSeq	Phase_I	P58397	ATS12_HUMAN			21	4509	-			1392			TSP type-1 6.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.4174G>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.033374	0.35893	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.62232	0.04;0.04	5.16	1.05	0.20165	.	0.339195	0.30483	N	0.009529	T	0.45377	0.1339	L	0.42529	1.33	0.80722	D	1	B;B	0.29716	0.255;0.194	B;B	0.22601	0.024;0.04	T	0.20472	-1.0274	10	0.51188	T	0.08	.	4.7832	0.13213	0.0:0.4534:0.2926:0.254	.	1307;1392	P58397-3;P58397	.;ATS12_HUMAN	M	1392;1307	ENSP00000422554:V1392M;ENSP00000344847:V1307M	ENSP00000344847:V1307M	V	-	1	0	ADAMTS12	33585197	0.799000	0.28903	0.986000	0.45419	0.987000	0.75469	-0.063000	0.11655	-0.105000	0.12132	-0.312000	0.09012	GTG		0.562	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	0	NM_030955		5:33549440
PAPSS2	9060	broad.mit.edu	37	10	89419767	89419767	+	Splice_Site	SNP	T	T	C			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr10:89419767T>C	ENST00000361175.4	+	1	396		c.e1+2		RP11-57C13.3_ENST00000354527.2_RNA|RP11-57C13.6_ENST00000438082.1_lincRNA|PAPSS2_ENST00000427144.2_5'Flank|PAPSS2_ENST00000456849.1_Splice_Site	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2						3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|blood coagulation (GO:0007596)|bone development (GO:0060348)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		CAAAAGACGGTAGGCTTCCAG	0.731																																						ENST00000361175.4		NA																	0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20						c.e1+2		3'-phosphoadenosine 5'-phosphosulfate synthase 2							15.0	20.0	19.0					10																	89419767		2197	4288	6485	SO:0001630	splice_region_variant	9060				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity	g.chr10:89419767T>C	AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682	2.7.7.4, 2.7.1.25		8604	protein-coding gene	gene with protein product		603005				9771708	Standard	NM_004670		Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	ENST00000361175.4:c.27+2T>C	10.37:g.89419767T>C		False	False		Somatic	0				PAPSS2_ENST00000456849.1_Splice_Site		NM_004670.3	NP_004661.2	WXS	Illumina HiSeq	Phase_I	O95340	PAPS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)	1	396	+		Melanoma(5;0.019)|Colorectal(252;0.123)	NA					Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Splice_Site	SNP	ENST00000361175.4	37		CCDS7385.1	.	.	.	.	.	.	.	.	.	.	T	16.95	3.263517	0.59431	.	.	ENSG00000198682	ENST00000361175;ENST00000456849	.	.	.	4.28	4.28	0.50868	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.7299	0.40355	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PAPSS2	89409747	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	3.292000	0.51772	1.794000	0.52575	0.379000	0.24179	.		0.731	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049229.1	0		Intron	10:89419767
TARS	6897	broad.mit.edu	37	5	33455699	33455699	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr5:33455699T>C	ENST00000265112.3	+	6	894	c.583T>C	c.(583-585)Tct>Cct	p.S195P	TARS_ENST00000414361.2_Missense_Mutation_p.S74P|TARS_ENST00000455217.2_Missense_Mutation_p.S228P|TARS_ENST00000502553.1_Missense_Mutation_p.S195P|TARS_ENST00000541634.1_Missense_Mutation_p.S91P	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	195					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	CAGGGGTGTGTCTAGCAATGA	0.348																																						ENST00000265112.3		NA																	0				NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29						c.(583-585)Tct>Cct		threonyl-tRNA synthetase	L-Threonine(DB00156)						79.0	81.0	81.0					5																	33455699		2203	4300	6503	SO:0001583	missense	6897				threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	g.chr5:33455699T>C	AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	11572	protein-coding gene	gene with protein product	"""threonine tRNA ligase 1, cytoplasmic"""	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.583T>C	5.37:g.33455699T>C	ENSP00000265112:p.Ser195Pro	True	False		Somatic	0				TARS_ENST00000502553.1_Missense_Mutation_p.S195P|TARS_ENST00000541634.1_Missense_Mutation_p.S91P|TARS_ENST00000414361.2_Missense_Mutation_p.S74P|TARS_ENST00000455217.2_Missense_Mutation_p.S228P	p.S195P	NM_152295.4	NP_689508.3	WXS	Illumina HiSeq	Phase_I	P26639	SYTC_HUMAN			6	894	+			195					A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Missense_Mutation	SNP	ENST00000265112.3	37	c.583T>C	CCDS3899.1	.	.	.	.	.	.	.	.	.	.	T	16.49	3.139242	0.56936	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	T;T;T;T;T	0.08896	3.04;3.04;3.04;3.04;3.04	5.45	5.45	0.79879	Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.000000	0.85682	D	0.000000	T	0.35508	0.0934	M	0.90145	3.09	0.80722	D	1	B;D;D;D	0.76494	0.058;0.999;0.993;0.999	B;D;D;D	0.68943	0.035;0.961;0.956;0.944	T	0.39881	-0.9592	10	0.62326	D	0.03	-26.5112	15.5522	0.76161	0.0:0.0:0.0:1.0	.	74;228;91;195	E7ERI3;B4DEG8;G3XAN9;P26639	.;.;.;SYTC_HUMAN	P	195;195;91;228;74	ENSP00000424387:S195P;ENSP00000265112:S195P;ENSP00000438469:S91P;ENSP00000387710:S228P;ENSP00000394291:S74P	ENSP00000265112:S195P	S	+	1	0	TARS	33491456	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	8.040000	0.89188	2.084000	0.62774	0.392000	0.25879	TCT		0.348	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207367.1	0	NM_152295		5:33455699
HERC2	8924	broad.mit.edu	37	15	28459392	28459392	+	Missense_Mutation	SNP	G	G	A	rs138059246	byFrequency	TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr15:28459392G>A	ENST00000261609.7	-	41	6493	c.6385C>T	c.(6385-6387)Cgc>Tgc	p.R2129C		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCCTGCGGGCGCACCCTGCGC	0.667																																						ENST00000261609.7		NA																	0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(6385-6387)Cgc>Tgc		HECT and RLD domain containing E3 ubiquitin protein ligase 2							25.0	26.0	25.0					15																	28459392		2195	4292	6487	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28459392G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.6385C>T	15.37:g.28459392G>A	ENSP00000261609:p.Arg2129Cys	False	False		Somatic	0					p.R2129C	NM_004667.5	NP_004658.3	WXS	Illumina HiSeq	Phase_I	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	41	6493	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	2129						Missense_Mutation	SNP	ENST00000261609.7	37	c.6385C>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.944883	0.53079	.	.	ENSG00000128731	ENST00000261609	T	0.41400	1.0	4.75	3.77	0.43336	.	0.000000	0.85682	D	0.000000	T	0.53594	0.1806	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.55866	-0.8073	10	0.72032	D	0.01	.	12.4051	0.55434	0.0:0.0:0.7652:0.2348	.	2129	O95714	HERC2_HUMAN	C	2129	ENSP00000261609:R2129C	ENSP00000261609:R2129C	R	-	1	0	HERC2	26132987	1.000000	0.71417	0.956000	0.39512	0.126000	0.20510	3.130000	0.50508	2.461000	0.83175	0.484000	0.47621	CGC		0.667	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	0	NM_004667		15:28459392
FRMPD1	22844	broad.mit.edu	37	9	37746200	37746200	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr9:37746200G>A	ENST00000539465.1	+	16	4764	c.4171G>A	c.(4171-4173)Gca>Aca	p.A1391T	FRMPD1_ENST00000377765.3_Missense_Mutation_p.A1391T|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1391						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.A1391T(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CTGCACCACCGCACCCCTGTC	0.662																																						ENST00000539465.1		NA																	1	Substitution - Missense(1)	p.A1391T(1)	kidney(1)	NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(4171-4173)Gca>Aca		FERM and PDZ domain containing 1							31.0	37.0	35.0					9																	37746200		2203	4300	6503	SO:0001583	missense	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37746200G>A	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.4171G>A	9.37:g.37746200G>A	ENSP00000444411:p.Ala1391Thr	False	False		Somatic	0				FRMPD1_ENST00000377765.3_Missense_Mutation_p.A1391T|RP11-613M10.9_ENST00000540557.1_Intron	p.A1391T			WXS	Illumina HiSeq	Phase_I	Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	16	4764	+			1391					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	c.4171G>A	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	G	1.279	-0.610757	0.03690	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.06608	3.28;3.28	5.3	4.39	0.52855	.	1.000500	0.08067	N	0.999257	T	0.03305	0.0096	N	0.08118	0	0.19575	N	0.999967	B	0.27679	0.185	B	0.17722	0.019	T	0.35375	-0.9791	10	0.17832	T	0.49	-1.3239	6.7298	0.23377	0.0936:0.1812:0.7251:0.0	.	1391	Q5SYB0	FRPD1_HUMAN	T	1391	ENSP00000366995:A1391T;ENSP00000444411:A1391T	ENSP00000366995:A1391T	A	+	1	0	FRMPD1	37736200	0.008000	0.16893	0.010000	0.14722	0.003000	0.03518	1.688000	0.37690	2.475000	0.83589	0.655000	0.94253	GCA		0.662	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	0	NM_014907		9:37746200
GNL3	26354	broad.mit.edu	37	3	52726995	52726995	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr3:52726995C>T	ENST00000418458.1	+	10	1150	c.977C>T	c.(976-978)gCa>gTa	p.A326V	GNL3_ENST00000394799.2_Missense_Mutation_p.A314V|GLT8D1_ENST00000463827.1_5'Flank|SNORD19B_ENST00000459623.1_RNA|SNORD19_ENST00000410413.1_RNA|SNORD69_ENST00000391150.1_RNA	NM_014366.4|NM_206826.1	NP_055181.3|NP_996562.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	326	Intermediate. {ECO:0000250}.				cell proliferation (GO:0008283)|GTP catabolic process (GO:0006184)|regulation of cell proliferation (GO:0042127)|ribosome biogenesis (GO:0042254)	extracellular space (GO:0005615)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		CGAAGTCCAGCAAGTATTGAA	0.498																																						ENST00000394799.2		NA																	0				breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12						c.(940-942)gCa>gTa		guanine nucleotide binding protein-like 3 (nucleolar)							108.0	101.0	103.0					3																	52726995		2203	4300	6503	SO:0001583	missense	26354				regulation of cell proliferation	nucleolus	GTP binding|protein binding	g.chr3:52726995C>T	AK027514	CCDS2861.1, CCDS43100.1	3p21.1	2005-01-10			ENSG00000163938	ENSG00000163938			29931	protein-coding gene	gene with protein product		608011				11085516, 12464630	Standard	NM_014366		Approved	C77032, E2IG3, MGC800, NS, nucleostemin	uc003dfd.3	Q9BVP2	OTTHUMG00000158752	ENST00000418458.1:c.977C>T	3.37:g.52726995C>T	ENSP00000395772:p.Ala326Val	False	False		Somatic	0				GNL3_ENST00000418458.1_Missense_Mutation_p.A326V	p.A314V	NM_206825.1	NP_996561.1	WXS	Illumina HiSeq	Phase_I	Q9BVP2	GNL3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)	10	1151	+			326			G.|Intermediate (By similarity).		B2RDC1|Q5PU80|Q96SV6|Q96SV7|Q9UJY0	Missense_Mutation	SNP	ENST00000418458.1	37	c.941C>T	CCDS2861.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.644836	0.47258	.	.	ENSG00000163938	ENST00000418458;ENST00000394799	T;T	0.14022	2.54;2.55	5.91	4.12	0.48240	GTP-binding domain, HSR1-related (1);	0.620210	0.18874	N	0.128751	T	0.03827	0.0108	N	0.01473	-0.845	0.37907	D	0.931235	B	0.02656	0.0	B	0.06405	0.002	T	0.26503	-1.0101	10	0.02654	T	1	.	8.4252	0.32725	0.0:0.7647:0.0:0.2353	.	326	Q9BVP2	GNL3_HUMAN	V	326;314	ENSP00000395772:A326V;ENSP00000378278:A314V	ENSP00000378278:A314V	A	+	2	0	GNL3	52702035	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.211000	0.32382	1.509000	0.48786	0.650000	0.86243	GCA		0.498	GNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352032.1	0	NM_014366		3:52726995
PCDHB3	56132	broad.mit.edu	37	5	140482020	140482020	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr5:140482020C>T	ENST00000231130.2	+	1	1787	c.1787C>T	c.(1786-1788)tCg>tTg	p.S596L	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	596	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACGGCGACTCGGGCCAGAAC	0.716																																						ENST00000231130.2		NA																	0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72						c.(1786-1788)tCg>tTg									10.0	12.0	11.0					5																	140482020		1777	3609	5386	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140482020C>T	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1787C>T	5.37:g.140482020C>T	ENSP00000231130:p.Ser596Leu	True	False		Somatic	0					p.S596L	NM_018937.2	NP_061760.1	WXS	Illumina HiSeq	Phase_I	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1787	+			596			Cadherin 6.		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.1787C>T	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.939596	0.73557	.	.	ENSG00000113205	ENST00000231130	T	0.49432	0.78	4.08	3.13	0.36017	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.68339	0.2990	M	0.82630	2.6	0.33058	D	0.533707	D	0.76494	0.999	D	0.66084	0.941	T	0.79077	-0.1951	9	0.87932	D	0	.	13.9076	0.63845	0.0:0.8468:0.1532:0.0	.	596	Q9Y5E6	PCDB3_HUMAN	L	596	ENSP00000231130:S596L	ENSP00000231130:S596L	S	+	2	0	PCDHB3	140462204	0.005000	0.15991	0.999000	0.59377	0.998000	0.95712	2.101000	0.41787	1.993000	0.58246	0.556000	0.70494	TCG		0.716	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	0	NM_018937		5:140482020
CCDC7	79741	broad.mit.edu	37	10	32740612	32740612	+	Silent	SNP	G	G	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr10:32740612G>A	ENST00000362006.5	+	2	585	c.42G>A	c.(40-42)tcG>tcA	p.S14S	CCDC7_ENST00000537047.1_Silent_p.S14S|CCDC7_ENST00000539197.1_Silent_p.S14S|CCDC7_ENST00000535327.1_Silent_p.S14S|CCDC7_ENST00000545067.1_Silent_p.S14S|CCDC7_ENST00000277657.6_Silent_p.S14S	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	14										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				GTAACAAATCGGCAAATGTTC	0.323																																						ENST00000545067.1		NA																	0				NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14						c.(40-42)tcG>tcA		coiled-coil domain containing 7							85.0	84.0	84.0					10																	32740612		2203	4300	6503	SO:0001819	synonymous_variant	221016							g.chr10:32740612G>A	BC022020	CCDS7173.1	10p11.23	2013-12-13			ENSG00000216937	ENSG00000216937			26533	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 68"""	C10orf68		12477932	Standard	NM_024688		Approved	FLJ32762, FLJ13031	uc001iwk.3	Q96M83	OTTHUMG00000150517	ENST00000362006.5:c.42G>A	10.37:g.32740612G>A		False	False		Somatic	0				CCDC7_ENST00000277657.6_Silent_p.S14S|CCDC7_ENST00000535327.1_Silent_p.S14S|CCDC7_ENST00000362006.5_Silent_p.S14S|CCDC7_ENST00000539197.1_Silent_p.S14S|CCDC7_ENST00000537047.1_Silent_p.S14S	p.S14S			WXS	Illumina HiSeq	Phase_I	Q96M83	CCDC7_HUMAN			2	338	+		Breast(68;0.000207)|Prostate(175;0.0107)	14					Q5VW55|Q8IVQ0|Q8NEQ0	Silent	SNP	ENST00000362006.5	37	c.42G>A	CCDS7173.1																																																																																				0.323	CCDC7-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047490.1	0	NM_145023		10:32740612
CSMD3	114788	broad.mit.edu	37	8	113697836	113697836	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr8:113697836G>A	ENST00000297405.5	-	15	2525	c.2281C>T	c.(2281-2283)Ctt>Ttt	p.L761F	CSMD3_ENST00000455883.2_Missense_Mutation_p.L657F|CSMD3_ENST00000352409.3_Missense_Mutation_p.L761F|CSMD3_ENST00000343508.3_Missense_Mutation_p.L721F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	761	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L721V(2)|p.L761V(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTGAAAGAAAGATGTATCCGG	0.428										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5		NA																	4	Substitution - Missense(4)	p.L721V(2)|p.L761V(2)	lung(4)	breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(2281-2283)Ctt>Ttt		CUB and Sushi multiple domains 3							103.0	110.0	107.0					8																	113697836		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113697836G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2281C>T	8.37:g.113697836G>A	ENSP00000297405:p.Leu761Phe	True	False	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)	Somatic	0				CSMD3_ENST00000352409.3_Missense_Mutation_p.L761F|CSMD3_ENST00000455883.2_Missense_Mutation_p.L657F|CSMD3_ENST00000343508.3_Missense_Mutation_p.L721F	p.L761F	NM_198123.1	NP_937756.1	WXS	Illumina HiSeq	Phase_I	Q7Z407	CSMD3_HUMAN			15	2525	-			761			CUB 4.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.2281C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921663	0.73213	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39	5.96	5.09	0.68999	CUB (5);	0.000000	0.64402	D	0.000009	T	0.64670	0.2619	M	0.86420	2.815	0.34498	D	0.705682	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.998;0.999;1.0	T	0.77381	-0.2609	10	0.40728	T	0.16	.	15.1353	0.72558	0.0675:0.0:0.9325:0.0	.	657;761;721	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	F	721;761;101;657;761	ENSP00000345799:L721F;ENSP00000297405:L761F;ENSP00000341558:L101F;ENSP00000412263:L657F;ENSP00000343124:L761F	ENSP00000297405:L761F	L	-	1	0	CSMD3	113767012	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.552000	0.73914	1.535000	0.49220	0.655000	0.94253	CTT		0.428	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	0	NM_052900		8:113697836
MFAP3L	9848	broad.mit.edu	37	4	170926893	170926893	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr4:170926893C>T	ENST00000361618.3	-	2	443	c.136G>A	c.(136-138)Gtg>Atg	p.V46M	MFAP3L_ENST00000393702.3_Missense_Mutation_p.V46M|MFAP3L_ENST00000506110.1_Missense_Mutation_p.V46M|MFAP3L_ENST00000393704.3_5'Flank	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	46						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		ATTACGGGCACAGAGCCCAAG	0.458																																						ENST00000361618.3		NA																	0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(136-138)Gtg>Atg		microfibrillar-associated protein 3-like							157.0	140.0	146.0					4																	170926893		2203	4300	6503	SO:0001583	missense	9848					integral to membrane|plasma membrane		g.chr4:170926893C>T	AB014526	CCDS34103.1, CCDS43281.1	4q33	2014-08-12			ENSG00000198948	ENSG00000198948		"""Immunoglobulin superfamily / I-set domain containing"""	29083	protein-coding gene	gene with protein product						9734811	Standard	XM_005263366		Approved	KIAA0626, NYD-sp9	uc003isp.4	O75121	OTTHUMG00000160942	ENST00000361618.3:c.136G>A	4.37:g.170926893C>T	ENSP00000354583:p.Val46Met	False	False		Somatic	0				MFAP3L_ENST00000506110.1_Missense_Mutation_p.V46M|MFAP3L_ENST00000393702.3_Missense_Mutation_p.V46M	p.V46M	NM_021647.6	NP_067679.6	WXS	Illumina HiSeq	Phase_I	O75121	MFA3L_HUMAN		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)	2	443	-		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)	46					A8K1X6|D3DP35|Q4W5N7|Q4W5N9|Q6TNA8|Q9BVE1|Q9BXK0	Missense_Mutation	SNP	ENST00000361618.3	37	c.136G>A	CCDS34103.1	.	.	.	.	.	.	.	.	.	.	C	4.276	0.050406	0.08243	.	.	ENSG00000198948	ENST00000361618;ENST00000393702;ENST00000506110;ENST00000504999;ENST00000506764;ENST00000510306	D;D;D;D;D	0.96073	-1.78;-3.9;-3.9;-3.9;-3.9	5.18	1.49	0.22878	Immunoglobulin-like fold (1);	0.598203	0.18825	N	0.130155	D	0.91068	0.7189	L	0.43152	1.355	0.25324	N	0.989092	B	0.09022	0.002	B	0.08055	0.003	T	0.81221	-0.1031	10	0.32370	T	0.25	-0.0058	9.0328	0.36269	0.0:0.6194:0.0:0.3806	.	46	O75121	MFA3L_HUMAN	M	46	ENSP00000354583:V46M;ENSP00000377305:V46M;ENSP00000422571:V46M;ENSP00000425303:V46M;ENSP00000426247:V46M	ENSP00000354583:V46M	V	-	1	0	MFAP3L	171163468	0.074000	0.21230	0.741000	0.31004	0.040000	0.13550	0.703000	0.25646	0.292000	0.22492	-0.258000	0.10820	GTG		0.458	MFAP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363043.2	0	NM_021647		4:170926893
OR52D1	390066	broad.mit.edu	37	11	5510886	5510886	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr11:5510886C>A	ENST00000322641.5	+	1	972	c.950C>A	c.(949-951)tCa>tAa	p.S317*	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	317					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S317L(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGAAGACTTCAATATGAATG	0.423																																						ENST00000322641.5		NA																	1	Substitution - Missense(1)	p.S317L(1)	skin(1)	central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(949-951)tCa>tAa		olfactory receptor, family 52, subfamily D, member 1							57.0	56.0	56.0					11																	5510886		2201	4297	6498	SO:0001587	stop_gained	390066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5510886C>A	BK004276	CCDS31384.1	11p15.4	2012-08-09			ENSG00000181609	ENSG00000181609		"""GPCR / Class A : Olfactory receptors"""	15212	protein-coding gene	gene with protein product							Standard	NM_001005163		Approved		uc010qzg.2	Q9H346	OTTHUMG00000066895	ENST00000322641.5:c.950C>A	11.37:g.5510886C>A	ENSP00000326232:p.Ser317*	False	False		Somatic	0				HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	p.S317*	NM_001005163.2	NP_001005163.1	WXS	Illumina HiSeq	Phase_I	Q9H346	O52D1_HUMAN		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	972	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	317					B9EGY9|Q6IFI6	Nonsense_Mutation	SNP	ENST00000322641.5	37	c.950C>A	CCDS31384.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.370450	0.42003	.	.	ENSG00000181609	ENST00000322641	.	.	.	4.75	0.744	0.18353	.	1.338280	0.05072	N	0.481801	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.3458	0.21349	0.0:0.5709:0.0:0.4291	.	.	.	.	X	317	.	ENSP00000326232:S317X	S	+	2	0	OR52D1	5467462	0.001000	0.12720	0.000000	0.03702	0.039000	0.13416	0.659000	0.24994	0.304000	0.22809	0.655000	0.94253	TCA		0.423	OR52D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143372.1	0	NM_001005163		11:5510886
FAT2	2196	broad.mit.edu	37	5	150907687	150907687	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr5:150907687G>A	ENST00000261800.5	-	15	10046	c.10034C>T	c.(10033-10035)gCg>gTg	p.A3345V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3345	Cadherin 30. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCATCAGTCGCTGATACCTG	0.532																																						ENST00000261800.5		NA																	0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(10033-10035)gCg>gTg		FAT atypical cadherin 2							102.0	95.0	97.0					5																	150907687		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150907687G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.10034C>T	5.37:g.150907687G>A	ENSP00000261800:p.Ala3345Val	False	False		Somatic	0					p.A3345V	NM_001447.2	NP_001438.1	WXS	Illumina HiSeq	Phase_I	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		15	10046	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	3345			Cadherin 30.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.10034C>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.026947	0.93518	.	.	ENSG00000086570	ENST00000261800	T	0.59364	0.27	5.73	5.73	0.89815	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000004	T	0.77824	0.4188	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.78917	-0.2015	10	0.72032	D	0.01	.	19.9191	0.97079	0.0:0.0:1.0:0.0	.	3345;536	Q9NYQ8;E9PDJ8	FAT2_HUMAN;.	V	3345	ENSP00000261800:A3345V	ENSP00000261800:A3345V	A	-	2	0	FAT2	150887880	1.000000	0.71417	0.917000	0.36280	0.778000	0.44026	9.067000	0.93955	2.707000	0.92482	0.643000	0.83706	GCG		0.532	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	0	NM_001447		5:150907687
P4HA1	5033	broad.mit.edu	37	10	74813157	74813157	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr10:74813157C>T	ENST00000307116.2	-	6	771	c.655G>A	c.(655-657)Gga>Aga	p.G219R	P4HA1_ENST00000412021.2_Missense_Mutation_p.G219R|P4HA1_ENST00000440381.1_Missense_Mutation_p.G219R|P4HA1_ENST00000373008.2_Missense_Mutation_p.G219R|P4HA1_ENST00000394890.2_Missense_Mutation_p.G219R|P4HA1_ENST00000263556.3_Missense_Mutation_p.G219R			P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	219					collagen fibril organization (GO:0030199)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|procollagen-proline 4-dioxygenase complex (GO:0016222)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCCAGGTCTCCCTGCTGATAT	0.398																																					Colon(147;367 2405 2662 52127)	ENST00000412021.2		NA																	0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15						c.(655-657)Gga>Aga		prolyl 4-hydroxylase, alpha polypeptide I	Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						128.0	127.0	127.0					10																	74813157		2203	4300	6503	SO:0001583	missense	5033					endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity	g.chr10:74813157C>T		CCDS7320.1, CCDS41537.1, CCDS44432.1	10q21.3-q23.1	2008-12-09	2008-12-09		ENSG00000122884	ENSG00000122884	1.14.11.2		8546	protein-coding gene	gene with protein product	"""collagen prolyl 4-hydroxylase alpha(I)"""	176710	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I"""	P4HA		2556027	Standard	NM_001017962		Approved	C-P4Halpha(I)	uc001jtg.3	P13674	OTTHUMG00000018449	ENST00000307116.2:c.655G>A	10.37:g.74813157C>T	ENSP00000307318:p.Gly219Arg	True	False		Somatic	0				P4HA1_ENST00000263556.3_Missense_Mutation_p.G219R|P4HA1_ENST00000307116.2_Missense_Mutation_p.G219R|P4HA1_ENST00000394890.2_Missense_Mutation_p.G219R|P4HA1_ENST00000373008.2_Missense_Mutation_p.G219R|P4HA1_ENST00000440381.1_Missense_Mutation_p.G219R	p.G219R	NM_001142595.1	NP_001136067.1	WXS	Illumina HiSeq	Phase_I	P13674	P4HA1_HUMAN			7	988	-	Prostate(51;0.0198)		219					C9JL12|Q15082|Q15083|Q5VSQ5	Missense_Mutation	SNP	ENST00000307116.2	37	c.655G>A		.	.	.	.	.	.	.	.	.	.	C	33	5.226826	0.95173	.	.	ENSG00000122884	ENST00000307116;ENST00000373008;ENST00000412021;ENST00000394890;ENST00000263556;ENST00000440381	T;T;T;T;T;T	0.52057	0.7;0.7;0.7;0.7;0.7;0.68	5.83	5.83	0.93111	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.77143	0.4087	M	0.91872	3.25	0.80722	D	1	D;D;D	0.76494	0.999;0.991;0.991	D;D;D	0.76575	0.988;0.953;0.953	T	0.81475	-0.0916	10	0.87932	D	0	-4.2197	20.1224	0.97967	0.0:1.0:0.0:0.0	.	219;219;219	C9JL12;Q5VSQ6;P13674	.;.;P4HA1_HUMAN	R	219	ENSP00000307318:G219R;ENSP00000362099:G219R;ENSP00000411688:G219R;ENSP00000378353:G219R;ENSP00000263556:G219R;ENSP00000414464:G219R	ENSP00000263556:G219R	G	-	1	0	P4HA1	74483163	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.468000	0.80943	2.763000	0.94921	0.655000	0.94253	GGA		0.398	P4HA1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000048601.1	0	NM_000917		10:74813157
PSG7	5676	broad.mit.edu	37	19	43430713	43430713	+	RNA	SNP	G	G	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr19:43430713G>A	ENST00000406070.2	-	0	961				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				TTTTCAATGCGTCGCTTTACC	0.493																																						ENST00000446844.3		NA																	0					NA								pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)							237.0	219.0	225.0					19																	43430713		2202	4284	6486			5676				female pregnancy	extracellular region		g.chr19:43430713G>A			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43430713G>A		False	False		Somatic	0				PSG7_ENST00000406070.2_RNA				WXS	Illumina HiSeq	Phase_I	Q13046	PSG7_HUMAN			0	954	-		Prostate(69;0.00682)	NA					Q15232	RNA	SNP	ENST00000406070.2	37																																																																																						0.493	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	0	NM_001206650		19:43430713
PTCHD2	57540	broad.mit.edu	37	1	11595630	11595630	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr1:11595630G>A	ENST00000294484.6	+	20	3883	c.3745G>A	c.(3745-3747)Gtg>Atg	p.V1249M	PTCHD2_ENST00000304391.6_Missense_Mutation_p.R135H|PTCHD2_ENST00000389575.3_Missense_Mutation_p.V1249M	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1249					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TGGCTCCTCCGTGGATTACTG	0.647																																						ENST00000294484.6		NA																	0				NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76						c.(3745-3747)Gtg>Atg		patched domain containing 2							68.0	80.0	76.0					1																	11595630		2133	4230	6363	SO:0001583	missense	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11595630G>A	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.3745G>A	1.37:g.11595630G>A	ENSP00000294484:p.Val1249Met	False	False		Somatic	0				PTCHD2_ENST00000304391.6_Missense_Mutation_p.R135H|PTCHD2_ENST00000389575.3_Missense_Mutation_p.V1249M	p.V1249M	NM_020780.1	NP_065831.1	WXS	Illumina HiSeq	Phase_I	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	20	3883	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	1249					Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	c.3745G>A	CCDS41247.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.12|18.12	3.552516|3.552516	0.65425|0.65425	.|.	.|.	ENSG00000204624|ENSG00000204624	ENST00000304391|ENST00000294484;ENST00000389575	.|D;D	.|0.94457	.|-3.43;-2.84	5.54|5.54	5.54|5.54	0.83059|0.83059	.|Membrane transport protein, MMPL type (1);	.|0.000000	.|0.64402	.|D	.|0.000003	D|D	0.97334|0.97334	0.9128|0.9128	M|M	0.81802|0.81802	2.56|2.56	0.48185|0.48185	D|D	0.999605|0.999605	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.97740|0.97740	1.0208|1.0208	6|10	0.87932|0.72032	D|D	0|0.01	-24.6787|-24.6787	18.4583|18.4583	0.90729|0.90729	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1249	.|Q9P2K9	.|PTHD2_HUMAN	H|M	135|1249	.|ENSP00000294484:V1249M;ENSP00000374226:V1249M	ENSP00000303400:R135H|ENSP00000294484:V1249M	R|V	+|+	2|1	0|0	PTCHD2|PTCHD2	11518217|11518217	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.766000|0.766000	0.43426|0.43426	7.578000|7.578000	0.82498|0.82498	2.604000|2.604000	0.88044|0.88044	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.647	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	0	XM_052561		1:11595630
ABCC9	10060	broad.mit.edu	37	12	22025599	22025599	+	Missense_Mutation	SNP	C	C	T	rs542184069		TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr12:22025599C>T	ENST00000261201.4	-	16	2157	c.2158G>A	c.(2158-2160)Ggt>Agt	p.G720S	ABCC9_ENST00000261200.4_Missense_Mutation_p.G720S|ABCC9_ENST00000345162.2_Missense_Mutation_p.G684S|RP11-729I10.2_ENST00000539874.1_RNA	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	720	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.G720C(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	TGCATCTCACCGAGGATGGCA	0.418													C|||	1	0.000199681	0.0	0.0	5008	,	,		13730	0.0		0.001	False		,,,				2504	0.0					ENST00000261200.4		NA																	2	Substitution - Missense(2)	p.G720C(2)	kidney(2)	NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(2158-2160)Ggt>Agt		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						238.0	230.0	233.0					12																	22025599		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22025599C>T	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.2158G>A	12.37:g.22025599C>T	ENSP00000261201:p.Gly720Ser	False	False		Somatic	0				ABCC9_ENST00000261201.4_Missense_Mutation_p.G720S|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.G684S	p.G720S	NM_020297.2	NP_064693.2	WXS	Illumina HiSeq	Phase_I	O60706	ABCC9_HUMAN			16	2157	-			720			ABC transporter 1.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.2158G>A	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	C	35	5.413057	0.96072	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.78	5.63	5.63	0.86233	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.96160	0.8748	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96238	0.9173	10	0.87932	D	0	-13.3901	19.6499	0.95796	0.0:1.0:0.0:0.0	.	720;720	O60706;O60706-2	ABCC9_HUMAN;.	S	720;347;720;684	ENSP00000261200:G720S;ENSP00000440521:G347S;ENSP00000261201:G720S;ENSP00000261202:G684S	ENSP00000261200:G720S	G	-	1	0	ABCC9	21916866	1.000000	0.71417	0.917000	0.36280	0.909000	0.53808	7.600000	0.82769	2.814000	0.96858	0.563000	0.77884	GGT		0.418	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	0	NM_005691		12:22025599
ZNF141	7700	broad.mit.edu	37	4	367212	367212	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr4:367212A>G	ENST00000240499.7	+	4	1135	c.986A>G	c.(985-987)cAt>cGt	p.H329R	ZNF141_ENST00000512994.1_Intron|ZNF141_ENST00000505939.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	329					anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						CTTACTAAACATAAGAGAATT	0.373																																						ENST00000240499.7		NA																	0				breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						c.(985-987)cAt>cGt		zinc finger protein 141							52.0	57.0	55.0					4																	367212		2202	4294	6496	SO:0001583	missense	7700				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr4:367212A>G	L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"""Zinc fingers, C2H2-type"", ""-"""	12926	protein-coding gene	gene with protein product		194648	"""zinc finger protein 141 (clone pHZ-44)"""	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.986A>G	4.37:g.367212A>G	ENSP00000240499:p.His329Arg	False	False		Somatic	0				ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	p.H329R	NM_003441.2	NP_003432.1	WXS	Illumina HiSeq	Phase_I	Q15928	ZN141_HUMAN			4	1135	+			329					Q6DK07	Missense_Mutation	SNP	ENST00000240499.7	37	c.986A>G	CCDS33931.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.945443	0.73672	.	.	ENSG00000131127	ENST00000240499	D	0.86865	-2.18	1.24	1.24	0.21308	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94938	0.8363	H	0.98199	4.17	0.29054	N	0.884313	D	0.89917	1.0	D	0.97110	1.0	D	0.87220	0.2253	8	.	.	.	.	6.1877	0.20506	1.0:0.0:0.0:0.0	.	329	Q15928	ZN141_HUMAN	R	329	ENSP00000240499:H329R	.	H	+	2	0	ZNF141	357212	0.991000	0.36638	0.777000	0.31699	0.982000	0.71751	6.242000	0.72376	0.495000	0.27882	0.260000	0.18958	CAT		0.373	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1	0	NM_003441		4:367212
PRG2	5553	broad.mit.edu	37	11	57156526	57156526	+	Missense_Mutation	SNP	C	C	T	rs146040085		TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr11:57156526C>T	ENST00000311862.5	-	3	396	c.323G>A	c.(322-324)cGc>cAc	p.R108H	RP11-872D17.8_ENST00000529411.1_Missense_Mutation_p.R213H|PRG2_ENST00000533605.1_Missense_Mutation_p.R108H|PRG2_ENST00000525955.1_Missense_Mutation_p.R108H	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3	P13727	PRG2_HUMAN	proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)	108	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Sargramostim(DB00020)	CAGGAGGTAGCGGCAGGTCTG	0.547													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20465	0.0		0.0	False		,,,				2504	0.0					ENST00000311862.5		NA																	0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10						c.(322-324)cGc>cAc		proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)		C	HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	94.0	86.0	89.0		323	-1.0	0.0	11	dbSNP_134	89	1,8591	1.2+/-3.3	0,1,4295	no	missense	PRG2	NM_002728.4	29	0,2,6495	TT,TC,CC		0.0116,0.0227,0.0154		108/223	57156526	2,12992	2201	4296	6497	SO:0001583	missense	5553							g.chr11:57156526C>T	BC005929	CCDS7955.1, CCDS58133.1	11q12	2005-11-25				ENSG00000186652			9362	protein-coding gene	gene with protein product		605601				1565101	Standard	NM_001243245		Approved	MBP, BMPG		P13727		ENST00000311862.5:c.323G>A	11.37:g.57156526C>T	ENSP00000312134:p.Arg108His	False	False		Somatic	0				PRG2_ENST00000525955.1_Missense_Mutation_p.R108H|PRG2_ENST00000533605.1_Missense_Mutation_p.R108H|RP11-872D17.8_ENST00000529411.1_Missense_Mutation_p.R213H	p.R108H	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3	WXS	Illumina HiSeq	Phase_I				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	396	-			NA					A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Missense_Mutation	SNP	ENST00000311862.5	37	c.323G>A	CCDS7955.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.142752	0.57044	2.27E-4	1.16E-4	ENSG00000186652;ENSG00000186652;ENSG00000186652;ENSG00000254979	ENST00000311862;ENST00000533605;ENST00000525955;ENST00000529411	T;T;T;T	0.39787	1.06;2.72;1.06;1.21	5.34	-0.992	0.10232	C-type lectin fold (1);C-type lectin (1);	0.139621	0.30277	N	0.009986	T	0.23492	0.0568	L	0.55743	1.74	0.09310	N	1	B;P	0.37548	0.041;0.599	B;B	0.25405	0.015;0.06	T	0.25916	-1.0118	10	0.17832	T	0.49	.	4.4194	0.11472	0.1481:0.4307:0.0:0.4212	.	108;108	A6XMW0;P13727	.;PRG2_HUMAN	H	108;108;108;213	ENSP00000312134:R108H;ENSP00000433231:R108H;ENSP00000433016:R108H;ENSP00000431536:R213H	ENSP00000312134:R108H	R	-	2	0	RP11-872D17.8;PRG2	56913102	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.060000	0.11712	-0.505000	0.06568	-0.291000	0.09656	CGC		0.547	PRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392468.1	0	NM_002728		11:57156526
NTNG1	22854	broad.mit.edu	37	1	108023321	108023321	+	Silent	SNP	G	G	A	rs375220736		TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr1:108023321G>A	ENST00000370068.1	+	8	2325	c.1479G>A	c.(1477-1479)acG>acA	p.T493T	NTNG1_ENST00000542803.1_Silent_p.T493T|NTNG1_ENST00000370066.1_Silent_p.T434T|NTNG1_ENST00000370061.3_Silent_p.T459T|NTNG1_ENST00000370071.2_Silent_p.T434T|NTNG1_ENST00000370072.3_Silent_p.T448T|NTNG1_ENST00000370065.1_Silent_p.T448T|NTNG1_ENST00000370074.4_Silent_p.T392T|NTNG1_ENST00000370073.2_Silent_p.T493T|NTNG1_ENST00000370067.1_Silent_p.T414T|NTNG1_ENST00000370070.2_Silent_p.T414T			Q9Y2I2	NTNG1_HUMAN	netrin G1	493					axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CCGCATACACGGGCATCCTCT	0.687																																						ENST00000370067.1		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37						c.(1240-1242)acG>acA		netrin G1							24.0	27.0	26.0					1																	108023321		2202	4299	6501	SO:0001819	synonymous_variant	22854				axonogenesis	anchored to plasma membrane	protein binding	g.chr1:108023321G>A	AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"""Netrins"""	23319	protein-coding gene	gene with protein product	"""netrin G1f"", ""Netrin-G1"""	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.1479G>A	1.37:g.108023321G>A		True	False		Somatic	0				NTNG1_ENST00000370066.1_Silent_p.T434T|NTNG1_ENST00000370073.2_Silent_p.T493T|NTNG1_ENST00000370061.3_Silent_p.T459T|NTNG1_ENST00000370070.2_Silent_p.T414T|NTNG1_ENST00000542803.1_Silent_p.T493T|NTNG1_ENST00000370068.1_Silent_p.T493T|NTNG1_ENST00000370072.3_Silent_p.T448T|NTNG1_ENST00000370071.2_Silent_p.T434T|NTNG1_ENST00000370065.1_Silent_p.T448T|NTNG1_ENST00000370074.4_Silent_p.T392T	p.T414T			WXS	Illumina HiSeq	Phase_I	Q9Y2I2	NTNG1_HUMAN		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)	7	1869	+		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)	445			Laminin EGF-like 2.		Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Silent	SNP	ENST00000370068.1	37	c.1242G>A	CCDS44180.1																																																																																				0.687	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	0	NM_014917		1:108023321
SVEP1	79987	broad.mit.edu	37	9	113261346	113261346	+	Silent	SNP	G	G	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr9:113261346G>A	ENST00000401783.2	-	7	1992	c.1656C>T	c.(1654-1656)gtC>gtT	p.V552V	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Silent_p.V529V|SVEP1_ENST00000374461.1_Silent_p.V529V|SVEP1_ENST00000302728.8_Silent_p.V552V	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	552	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCTGAACTCCGACATTCCATT	0.413																																						ENST00000401783.2		NA																	0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(1654-1656)gtC>gtT		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							60.0	56.0	57.0					9																	113261346		1933	4152	6085	SO:0001819	synonymous_variant	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113261346G>A	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.1656C>T	9.37:g.113261346G>A		False	False		Somatic	0				SVEP1_ENST00000374461.1_Silent_p.V529V|SVEP1_ENST00000374469.1_Silent_p.V529V|SVEP1_ENST00000302728.8_Silent_p.V552V|SVEP1_ENST00000467821.1_5'UTR	p.V552V	NM_153366.3	NP_699197.3	WXS	Illumina HiSeq	Phase_I	Q4LDE5	SVEP1_HUMAN			7	1992	-			552			Sushi 3.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	c.1656C>T	CCDS48004.1																																																																																				0.413	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0			9:113261346
DYSF	8291	broad.mit.edu	37	2	71896785	71896785	+	Missense_Mutation	SNP	G	G	A	rs143939123	byFrequency	TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr2:71896785G>A	ENST00000258104.3	+	50	5853	c.5576G>A	c.(5575-5577)cGt>cAt	p.R1859H	DYSF_ENST00000429174.2_Missense_Mutation_p.R1880H|DYSF_ENST00000409366.1_Missense_Mutation_p.R1881H|DYSF_ENST00000409651.1_Missense_Mutation_p.R1891H|DYSF_ENST00000409744.1_Missense_Mutation_p.R1867H|DYSF_ENST00000413539.2_Missense_Mutation_p.R1890H|DYSF_ENST00000410041.1_Missense_Mutation_p.R1877H|DYSF_ENST00000409762.1_Missense_Mutation_p.R1876H|DYSF_ENST00000394120.2_Missense_Mutation_p.R1860H|DYSF_ENST00000409582.3_Missense_Mutation_p.R1897H|DYSF_ENST00000410020.3_Missense_Mutation_p.R1898H|DYSF_ENST00000479049.2_3'UTR	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1859	C2 7. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)	p.R1859H(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GTGCATTATCGTTCCCTGGGA	0.438													G|||	2	0.000399361	0.0015	0.0	5008	,	,		23536	0.0		0.0	False		,,,				2504	0.0					ENST00000258104.3		NA																	1	Substitution - Missense(1)	p.R1859H(1)	large_intestine(1)	autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(5575-5577)cGt>cAt		dysferlin		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	219.0	182.0	194.0		5579,5534,5597,5639,5669,5627,5690,5672,5642,5600,5630,5537,5693,5576	4.9	1.0	2	dbSNP_134	194	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	DYSF	NM_001130455.1,NM_001130976.1,NM_001130977.1,NM_001130978.1,NM_001130979.1,NM_001130980.1,NM_001130981.1,NM_001130982.1,NM_001130983.1,NM_001130984.1,NM_001130985.1,NM_001130986.1,NM_001130987.1,NM_003494.3	29,29,29,29,29,29,29,29,29,29,29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	1860/2082,1845/2067,1866/2088,1880/2102,1890/2112,1876/2098,1897/2119,1891/2113,1881/2103,1867/2089,1877/2099,1846/2068,1898/2120,1859/2081	71896785	1,13005	2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71896785G>A	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.5576G>A	2.37:g.71896785G>A	ENSP00000258104:p.Arg1859His	False	False		Somatic	0				DYSF_ENST00000410020.3_Missense_Mutation_p.R1898H|DYSF_ENST00000429174.2_Missense_Mutation_p.R1880H|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409651.1_Missense_Mutation_p.R1891H|DYSF_ENST00000410041.1_Missense_Mutation_p.R1877H|DYSF_ENST00000413539.2_Missense_Mutation_p.R1890H|DYSF_ENST00000409366.1_Missense_Mutation_p.R1881H|DYSF_ENST00000409744.1_Missense_Mutation_p.R1867H|DYSF_ENST00000394120.2_Missense_Mutation_p.R1860H|DYSF_ENST00000409582.3_Missense_Mutation_p.R1897H|DYSF_ENST00000409762.1_Missense_Mutation_p.R1876H	p.R1859H	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	WXS	Illumina HiSeq	Phase_I	O75923	DYSF_HUMAN			50	5853	+			1859					A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.5576G>A	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.831448	0.91036	0.0	1.16E-4	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.90900	-2.75;-2.75;-2.75;-2.75;-2.75;-2.75;-2.75;-2.75;-2.75;-2.75;-2.75	4.87	4.87	0.63330	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.098372	0.64402	D	0.000003	D	0.95294	0.8473	M	0.84433	2.695	0.52099	D	0.999946	D;D;D;D;D;D;D;D;D;D;D;P;D;D;D	0.89917	0.999;0.999;0.999;0.996;0.996;1.0;1.0;1.0;0.977;0.999;0.973;0.614;0.996;0.996;0.999	D;P;D;P;P;D;D;D;P;D;P;B;P;P;D	0.72338	0.967;0.897;0.91;0.897;0.852;0.977;0.977;0.977;0.476;0.938;0.606;0.228;0.897;0.897;0.938	D	0.94569	0.7769	10	0.40728	T	0.16	-26.1585	15.8904	0.79293	0.0:0.0:1.0:0.0	.	623;1891;1898;1881;1846;1877;1867;1876;1866;1890;1897;1880;1845;1860;1859	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	H	1890;1876;1897;1880;1859;1891;1860;1867;1881;1898;1877	ENSP00000407046:R1890H;ENSP00000387137:R1876H;ENSP00000386547:R1897H;ENSP00000398305:R1880H;ENSP00000258104:R1859H;ENSP00000386683:R1891H;ENSP00000377678:R1860H;ENSP00000386285:R1867H;ENSP00000386512:R1881H;ENSP00000386881:R1898H;ENSP00000386617:R1877H	ENSP00000258104:R1859H	R	+	2	0	DYSF	71750293	1.000000	0.71417	0.990000	0.47175	0.912000	0.54170	9.492000	0.97957	2.698000	0.92095	0.655000	0.94253	CGT		0.438	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	0	NM_003494		2:71896785
CYP11B1	1584	broad.mit.edu	37	8	143961141	143961141	+	Missense_Mutation	SNP	C	C	T	rs201103987	byFrequency	TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr8:143961141C>T	ENST00000292427.4	-	1	121	c.89G>A	c.(88-90)cGg>cAg	p.R30Q	CYP11B1_ENST00000377675.3_Missense_Mutation_p.R30Q|CYP11B1_ENST00000517471.1_Missense_Mutation_p.R30Q	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	30					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.R30Q(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	CCTGGGGACCCGGGCGGCTCT	0.647									Familial Hyperaldosteronism type I				.|||	3	0.000599042	0.0	0.0	5008	,	,		19249	0.002		0.001	False		,,,				2504	0.0					ENST00000292427.4		NA																	1	Substitution - Missense(1)	p.R30Q(1)	lung(1)	central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67						c.(88-90)cGg>cAg		cytochrome P450, family 11, subfamily B, polypeptide 1	Mitotane(DB00648)						70.0	70.0	70.0					8																	143961141		2203	4300	6503	SO:0001583	missense	0	Familial Hyperaldosteronism type I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143961141C>T	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.89G>A	8.37:g.143961141C>T	ENSP00000292427:p.Arg30Gln	True	False		Somatic	0				CYP11B1_ENST00000377675.3_Missense_Mutation_p.R30Q|CYP11B1_ENST00000517471.1_Missense_Mutation_p.R30Q	p.R30Q	NM_000497.3	NP_000488.3	WXS	Illumina HiSeq	Phase_I	P15538	C11B1_HUMAN			1	121	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		30					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	c.89G>A	CCDS6392.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	2.900	-0.227612	0.06022	.	.	ENSG00000160882	ENST00000292427;ENST00000517471;ENST00000377675	T;D;T	0.83591	-0.95;-1.74;-0.99	2.96	-5.93	0.02254	.	2.348690	0.02527	U	0.093123	T	0.58424	0.2121	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.54009	-0.8357	10	0.13853	T	0.58	.	0.1773	0.00120	0.2722:0.2676:0.2:0.2603	.	30;30;30	Q4VAR0;Q4VAQ9;P15538	.;.;C11B1_HUMAN	Q	30	ENSP00000292427:R30Q;ENSP00000428043:R30Q;ENSP00000366903:R30Q	ENSP00000292427:R30Q	R	-	2	0	CYP11B1	143958143	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.766000	0.04725	-1.668000	0.01471	-0.680000	0.03767	CGG		0.647	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2	0			8:143961141
POM121L12	285877	broad.mit.edu	37	7	53103801	53103801	+	Missense_Mutation	SNP	G	G	A	rs200929126	byFrequency	TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr7:53103801G>A	ENST00000408890.4	+	1	453	c.437G>A	c.(436-438)cGt>cAt	p.R146H		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	146								p.R146H(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCCCCTGAGCGTCAGGAGAGC	0.711													G|||	2	0.000399361	0.0008	0.0	5008	,	,		11241	0.0		0.001	False		,,,				2504	0.0					ENST00000408890.4		NA																	1	Substitution - Missense(1)	p.R146H(1)	endometrium(1)	endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(436-438)cGt>cAt		POM121 transmembrane nucleoporin-like 12							18.0	22.0	21.0					7																	53103801		1923	4092	6015	SO:0001583	missense	285877							g.chr7:53103801G>A		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.437G>A	7.37:g.53103801G>A	ENSP00000386133:p.Arg146His	False	False		Somatic	0					p.R146H	NM_182595.3	NP_872401.3	WXS	Illumina HiSeq	Phase_I	Q8N7R1	P1L12_HUMAN			1	453	+			146					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.437G>A	CCDS43584.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	6.394	0.440778	0.12104	.	.	ENSG00000221900	ENST00000408890	T	0.24723	1.84	1.37	-1.98	0.07480	.	.	.	.	.	T	0.17408	0.0418	L	0.43923	1.385	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26815	-1.0092	9	0.30078	T	0.28	.	5.2756	0.15647	0.5589:0.0:0.4411:0.0	.	146	Q8N7R1	P1L12_HUMAN	H	146	ENSP00000386133:R146H	ENSP00000386133:R146H	R	+	2	0	POM121L12	53071295	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.211000	0.02997	-0.736000	0.04831	-2.126000	0.00345	CGT		0.711	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	0	NM_182595		7:53103801
SLCO5A1	81796	broad.mit.edu	37	8	70617453	70617453	+	Missense_Mutation	SNP	C	C	T	rs141622109		TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr8:70617453C>T	ENST00000260126.4	-	6	2141	c.1435G>A	c.(1435-1437)Gtc>Atc	p.V479I	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.V479I|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.V424I	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	479						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GCACTGGGGACGATAATAACC	0.413																																						ENST00000260126.4		NA																	0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1435-1437)Gtc>Atc		solute carrier organic anion transporter family, member 5A1		C	ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	57.0	59.0	58.0		1435,1270,1435	5.6	1.0	8	dbSNP_134	58	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	SLCO5A1	NM_001146008.1,NM_001146009.1,NM_030958.2	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	479/688,424/794,479/849	70617453	1,13005	2203	4300	6503	SO:0001583	missense	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70617453C>T	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.1435G>A	8.37:g.70617453C>T	ENSP00000260126:p.Val479Ile	False	False		Somatic	0				SLCO5A1_ENST00000530307.1_Missense_Mutation_p.V424I|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.V479I	p.V479I	NM_030958.2	NP_112220.2	WXS	Illumina HiSeq	Phase_I	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		6	2141	-	Breast(64;0.0654)		NA					A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	c.1435G>A	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.265449	0.40095	0.0	1.16E-4	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.39787	1.06;1.06;1.06	5.55	5.55	0.83447	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.46464	0.1394	N	0.17474	0.49	0.44221	D	0.997051	D;D;P;P	0.89917	1.0;0.961;0.798;0.871	D;P;B;B	0.83275	0.996;0.621;0.261;0.144	T	0.16689	-1.0394	10	0.05436	T	0.98	.	19.8764	0.96873	0.0:1.0:0.0:0.0	.	424;424;479;479	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	I	479;479;424	ENSP00000260126:V479I;ENSP00000434422:V479I;ENSP00000431611:V424I	ENSP00000260126:V479I	V	-	1	0	SLCO5A1	70780007	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	7.748000	0.85085	2.768000	0.95171	0.655000	0.94253	GTC		0.413	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	0	NM_030958		8:70617453
MMRN2	79812	broad.mit.edu	37	10	88702455	88702455	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr10:88702455C>T	ENST00000372027.5	-	6	2407	c.2086G>A	c.(2086-2088)Ggg>Agg	p.G696R	MMRN2_ENST00000488950.1_5'Flank	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	696					angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						CGCGCCAGCCCGGCCAGGGCG	0.776																																						ENST00000372027.5		NA																	0				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						c.(2086-2088)Ggg>Agg		multimerin 2							5.0	5.0	5.0					10																	88702455		2040	3968	6008	SO:0001583	missense	79812					extracellular space		g.chr10:88702455C>T	AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"""EMI domain containing"""	19888	protein-coding gene	gene with protein product		608925	"""elastin microfibril interfacer 3"""	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.2086G>A	10.37:g.88702455C>T	ENSP00000361097:p.Gly696Arg	True	False		Somatic	0					p.G696R	NM_024756.2	NP_079032.2	WXS	Illumina HiSeq	Phase_I	Q9H8L6	MMRN2_HUMAN			6	2407	-			NA					Q504V7|Q6P2N2	Missense_Mutation	SNP	ENST00000372027.5	37	c.2086G>A	CCDS7379.1	.	.	.	.	.	.	.	.	.	.	C	9.413	1.081066	0.20309	.	.	ENSG00000173269	ENST00000372027;ENST00000443699	T	0.14144	2.53	4.85	-1.39	0.08997	.	1.310930	0.05269	N	0.517137	T	0.11324	0.0276	L	0.56769	1.78	0.09310	N	1	P;P;P	0.49961	0.93;0.645;0.93	B;B;B	0.30716	0.119;0.037;0.09	T	0.46569	-0.9182	10	0.35671	T	0.21	-7.3288	9.3618	0.38201	0.0:0.3617:0.5044:0.1339	.	474;635;696	E7EN39;B4E3H8;Q9H8L6	.;.;MMRN2_HUMAN	R	696;474	ENSP00000361097:G696R	ENSP00000361097:G696R	G	-	1	0	MMRN2	88692435	0.000000	0.05858	0.005000	0.12908	0.067000	0.16453	-0.154000	0.10130	0.055000	0.16094	0.305000	0.20034	GGG		0.776	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049179.2	0	NM_024756		10:88702455
DHX8	1659	broad.mit.edu	37	17	41566830	41566830	+	Silent	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr17:41566830C>T	ENST00000262415.3	+	2	234	c.162C>T	c.(160-162)atC>atT	p.I54I	DHX8_ENST00000540306.1_Silent_p.I54I	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	54					ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		AATTTGTGATCAGTCTTGCTG	0.333																																					NSCLC(56;1548 1661 49258 49987)	ENST00000262415.3		NA																	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(160-162)atC>atT		DEAH (Asp-Glu-Ala-His) box polypeptide 8							100.0	104.0	103.0					17																	41566830		2202	4300	6502	SO:0001819	synonymous_variant	1659					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr17:41566830C>T	D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"""DEAH-boxes"""	2749	protein-coding gene	gene with protein product		600396	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"""	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.162C>T	17.37:g.41566830C>T		False	False		Somatic	0				DHX8_ENST00000540306.1_Silent_p.I54I	p.I54I	NM_004941.1	NP_004932.1	WXS	Illumina HiSeq	Phase_I	Q14562	DHX8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.08)	2	234	+		Breast(137;0.00908)	54						Silent	SNP	ENST00000262415.3	37	c.162C>T	CCDS11464.1																																																																																				0.333	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1	0			17:41566830
FGD3	89846	broad.mit.edu	37	9	95773521	95773521	+	Silent	SNP	C	C	T	rs140324424	byFrequency	TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr9:95773521C>T	ENST00000375482.3	+	8	1498	c.1002C>T	c.(1000-1002)gcC>gcT	p.A334A	FGD3_ENST00000416701.2_Silent_p.A334A|FGD3_ENST00000337352.6_Silent_p.A334A	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	334	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.A334A(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						TCTCCACAGCCGCCAACCACT	0.632													c|||	6	0.00119808	0.0045	0.0	5008	,	,		15967	0.0		0.0	False		,,,				2504	0.0					ENST00000375482.3		NA																	2	Substitution - coding silent(2)	p.A334A(2)	lung(2)	breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(1000-1002)gcC>gcT		FYVE, RhoGEF and PH domain containing 3		C	,	5,4207		0,5,2101	64.0	77.0	73.0		1002,1002	-4.6	0.9	9	dbSNP_134	73	1,8503		0,1,4251	no	coding-synonymous,coding-synonymous	FGD3	NM_001083536.1,NM_033086.2	,	0,6,6352	TT,TC,CC		0.0118,0.1187,0.0472	,	334/726,334/726	95773521	6,12710	2106	4252	6358	SO:0001819	synonymous_variant	89846				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr9:95773521C>T	AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16027	protein-coding gene	gene with protein product			"""FGD1 family, member 3"""			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.1002C>T	9.37:g.95773521C>T		False	False		Somatic	0				FGD3_ENST00000337352.6_Silent_p.A334A|FGD3_ENST00000416701.2_Silent_p.A334A	p.A334A	NM_001083536.1	NP_001077005.1	WXS	Illumina HiSeq	Phase_I	Q5JSP0	FGD3_HUMAN			8	1498	+			334			DH.		F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Silent	SNP	ENST00000375482.3	37	c.1002C>T	CCDS43849.1																																																																																				0.632	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055493.1	0	NM_033086		9:95773521
PI4KB	5298	broad.mit.edu	37	1	151288137	151288137	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr1:151288137C>T	ENST00000368873.1	-	2	989	c.821G>A	c.(820-822)cGc>cAc	p.R274H	PI4KB_ENST00000368875.2_Missense_Mutation_p.R286H|PI4KB_ENST00000271657.5_Missense_Mutation_p.R286H|PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000368872.1_Missense_Mutation_p.R274H|PI4KB_ENST00000368874.4_Missense_Mutation_p.R274H			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	274					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|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)			TGACTTAGAGCGCTGGTGAGT	0.547																																					Colon(154;765 1838 9854 28443 37492)	ENST00000368875.2		NA																	0				breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27						c.(856-858)cGc>cAc		phosphatidylinositol 4-kinase, catalytic, beta							119.0	109.0	113.0					1																	151288137		2203	4300	6503	SO:0001583	missense	5298				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr1:151288137C>T	AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.821G>A	1.37:g.151288137C>T	ENSP00000357867:p.Arg274His	False	False		Somatic	0				PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000368873.1_Missense_Mutation_p.R274H|PI4KB_ENST00000271657.5_Missense_Mutation_p.R286H|PI4KB_ENST00000368872.1_Missense_Mutation_p.R274H|PI4KB_ENST00000368874.4_Missense_Mutation_p.R274H	p.R286H	NM_002651.2	NP_002642.1	WXS	Illumina HiSeq	Phase_I	Q9UBF8	PI4KB_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		3	1437	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		274					B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP	ENST00000368873.1	37	c.857G>A		.	.	.	.	.	.	.	.	.	.	C	26.6	4.755904	0.89843	.	.	ENSG00000143393	ENST00000368874;ENST00000368875;ENST00000271657;ENST00000368873;ENST00000368872;ENST00000438243	T;T;T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64;-0.64;-0.64	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.81049	0.4742	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.994;1.0	T	0.82548	-0.0402	10	0.72032	D	0.01	-14.1955	17.2599	0.87067	0.0:1.0:0.0:0.0	.	274;274;274	E9PIH4;Q9UBF8;Q9UBF8-2	.;PI4KB_HUMAN;.	H	274;286;286;274;274;274	ENSP00000357868:R274H;ENSP00000357869:R286H;ENSP00000271657:R286H;ENSP00000357867:R274H;ENSP00000357866:R274H;ENSP00000394719:R274H	ENSP00000271657:R286H	R	-	2	0	PI4KB	149554761	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.567000	0.82357	2.654000	0.90174	0.561000	0.74099	CGC		0.547	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	0	NM_002651		1:151288137
TSSC2	650368	broad.mit.edu	37	11	3427885	3427885	+	RNA	SNP	A	A	G			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr11:3427885A>G	ENST00000529482.1	+	0	1002									tumor suppressing subtransferable candidate 2 pseudogene																		AGCTTCACAGATCCACCGCTG	0.587																																						ENST00000529482.1		NA																	0					NA																																														0							g.chr11:3427885A>G			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427885A>G		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	1002	+			NA						RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1	0			11:3427885
COL11A1	1301	broad.mit.edu	37	1	103453235	103453235	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr1:103453235G>C	ENST00000370096.3	-	30	2768	c.2456C>G	c.(2455-2457)gCa>gGa	p.A819G	COL11A1_ENST00000353414.4_Missense_Mutation_p.A780G|COL11A1_ENST00000512756.1_Missense_Mutation_p.A703G|COL11A1_ENST00000358392.2_Missense_Mutation_p.A831G	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	819	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AGTTGGGCCTGCTCGACCTTT	0.473																																						ENST00000358392.2		NA																	0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(2491-2493)gCa>gGa		collagen, type XI, alpha 1							92.0	87.0	89.0					1																	103453235		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103453235G>C	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2456C>G	1.37:g.103453235G>C	ENSP00000359114:p.Ala819Gly	False	False		Somatic	0				COL11A1_ENST00000370096.3_Missense_Mutation_p.A819G|COL11A1_ENST00000353414.4_Missense_Mutation_p.A780G|COL11A1_ENST00000512756.1_Missense_Mutation_p.A703G	p.A831G	NM_080629.2	NP_542196.2	WXS	Illumina HiSeq	Phase_I	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	30	2809	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	819			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.2492C>G	CCDS778.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.34|11.34	1.608907|1.608907	0.28623|0.28623	.|.	.|.	ENSG00000060718|ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756|ENST00000370090	D;D;D;D|.	0.83755|.	-1.76;-1.76;-1.76;-1.76|.	4.39|4.39	4.39|4.39	0.52855|0.52855	.|.	0.140030|.	0.47455|.	D|.	0.000236|.	T|T	0.37758|0.37758	0.1015|0.1015	N|N	0.25332|0.25332	0.735|0.735	0.48511|0.48511	D|D	0.999661|0.999661	B;B;B;B|B	0.25441|0.13145	0.126;0.073;0.073;0.043|0.007	B;B;B;B|B	0.28784|0.14023	0.094;0.088;0.088;0.04|0.01	T|T	0.24261|0.24261	-1.0165|-1.0165	10|8	0.22706|0.39692	T|T	0.39|0.17	.|.	17.507|17.507	0.87748|0.87748	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	703;780;831;819|34	E9PCU0;P12107-3;P12107-2;P12107|F5H5Z5	.;.;.;COBA1_HUMAN|.	G|E	819;831;780;703|34	ENSP00000359114:A819G;ENSP00000351163:A831G;ENSP00000302551:A780G;ENSP00000426533:A703G|.	ENSP00000302551:A780G|ENSP00000359108:Q34E	A|Q	-|-	2|1	0|0	COL11A1|COL11A1	103225823|103225823	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.751000|0.751000	0.42716|0.42716	7.157000|7.157000	0.77461|0.77461	2.417000|2.417000	0.82017|0.82017	0.460000|0.460000	0.39030|0.39030	GCA|CAG		0.473	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	0	NM_080630		1:103453235
EFCAB6	64800	broad.mit.edu	37	22	44083353	44083353	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr22:44083353A>T	ENST00000262726.7	-	11	1393	c.1140T>A	c.(1138-1140)aaT>aaA	p.N380K	EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000396231.2_Missense_Mutation_p.N228K	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	380					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.N380K(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TTACATACCTATTTCTTTTTG	0.299																																						ENST00000262726.7		NA																	1	Substitution - Missense(1)	p.N380K(1)	prostate(1)	breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(1138-1140)aaT>aaA		EF-hand calcium binding domain 6							37.0	37.0	37.0					22																	44083353		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44083353A>T	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.1140T>A	22.37:g.44083353A>T	ENSP00000262726:p.Asn380Lys	True	False		Somatic	0				EFCAB6_ENST00000396231.2_Missense_Mutation_p.N228K|EFCAB6_ENST00000358439.4_Intron	p.N380K	NM_022785.3	NP_073622.2	WXS	Illumina HiSeq	Phase_I	Q5THR3	EFCB6_HUMAN			11	1393	-		Ovarian(80;0.0247)|all_neural(38;0.025)	380					A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.1140T>A	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	A	0.081	-1.183343	0.01620	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.13778	2.57;2.56	4.68	-3.22	0.05125	.	0.708763	0.12976	N	0.423735	T	0.07954	0.0199	L	0.51422	1.61	0.09310	N	0.999999	B;B	0.31077	0.307;0.083	B;B	0.26094	0.03;0.066	T	0.42965	-0.9420	10	0.06365	T	0.9	-10.7463	5.9226	0.19091	0.3674:0.0:0.4796:0.153	.	380;380	Q5THR3-6;Q5THR3	.;EFCB6_HUMAN	K	228;380	ENSP00000379533:N228K;ENSP00000262726:N380K	ENSP00000262726:N380K	N	-	3	2	EFCAB6	42414686	0.040000	0.19996	0.014000	0.15608	0.160000	0.22226	-0.974000	0.03794	-0.452000	0.07087	-0.256000	0.11100	AAT		0.299	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	0	NM_022785		22:44083353
ZSWIM4	65249	broad.mit.edu	37	19	13915898	13915898	+	Silent	SNP	G	G	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr19:13915898G>A	ENST00000254323.2	+	3	837	c.648G>A	c.(646-648)ctG>ctA	p.L216L	ZSWIM4_ENST00000440752.2_5'UTR	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	216							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CTGAGGTGCTGCCCACTGCTC	0.622											OREG0025298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000254323.2		NA																	0				central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(646-648)ctG>ctA		zinc finger, SWIM-type containing 4							45.0	39.0	41.0					19																	13915898		2203	4300	6503	SO:0001819	synonymous_variant	65249						zinc ion binding	g.chr19:13915898G>A	AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"""Zinc fingers, SWIM-type"""	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.648G>A	19.37:g.13915898G>A		True	False		Somatic	0	OREG0025298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	691	ZSWIM4_ENST00000440752.2_5'UTR	p.L216L	NM_023072.2	NP_075560.2	WXS	Illumina HiSeq	Phase_I	Q9H7M6	ZSWM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)		3	837	+			216						Silent	SNP	ENST00000254323.2	37	c.648G>A	CCDS32924.1																																																																																				0.622	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	0	XM_031342		19:13915898
CHST4	10164	broad.mit.edu	37	16	71570744	71570744	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr16:71570744C>T	ENST00000338482.5	+	3	507	c.164C>T	c.(163-165)tCt>tTt	p.S55F	CHST4_ENST00000572450.1_Missense_Mutation_p.S55F|CHST4_ENST00000539698.3_Missense_Mutation_p.S55F|RP11-510M2.5_ENST00000568523.1_RNA|ZNF19_ENST00000568446.1_Intron			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	55					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|immune response (GO:0006955)|inflammatory response (GO:0006954)|leukocyte tethering or rolling (GO:0050901)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|sulfur compound metabolic process (GO:0006790)	integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						CGCTCTGGCTCTTCTTTTGTG	0.567																																						ENST00000338482.5		NA																	0				cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(163-165)tCt>tTt		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4							127.0	121.0	123.0					16																	71570744		2198	4300	6498	SO:0001583	missense	10164				cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:71570744C>T	AF131235	CCDS10902.1	16q22.2	2008-02-05			ENSG00000140835	ENSG00000140835		"""Sulfotransferases, membrane-bound"""	1972	protein-coding gene	gene with protein product						10330415	Standard	NM_001166395		Approved	HEC-GLCNAC-6-ST, LSST	uc002fao.3	Q8NCG5	OTTHUMG00000137592	ENST00000338482.5:c.164C>T	16.37:g.71570744C>T	ENSP00000341206:p.Ser55Phe	False	False		Somatic	0				CHST4_ENST00000572450.1_Missense_Mutation_p.S55F|ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000539698.3_Missense_Mutation_p.S55F	p.S55F			WXS	Illumina HiSeq	Phase_I	Q8NCG5	CHST4_HUMAN			3	507	+			55					Q8IV46|Q9Y5R3	Missense_Mutation	SNP	ENST00000338482.5	37	c.164C>T	CCDS10902.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.007182	0.93287	.	.	ENSG00000140835	ENST00000338482;ENST00000539698	D;D	0.84298	-1.83;-1.83	6.0	6.0	0.97389	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.94798	0.8320	H	0.94503	3.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95535	0.8607	10	0.87932	D	0	-16.064	17.9887	0.89162	0.0:1.0:0.0:0.0	.	55	Q8NCG5	CHST4_HUMAN	F	55	ENSP00000341206:S55F;ENSP00000441204:S55F	ENSP00000341206:S55F	S	+	2	0	CHST4	70128245	1.000000	0.71417	0.960000	0.40013	0.968000	0.65278	7.794000	0.85869	2.848000	0.98002	0.655000	0.94253	TCT		0.567	CHST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268992.4	0	NM_005769		16:71570744
DSCAML1	57453	broad.mit.edu	37	11	117307888	117307888	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr11:117307888G>A	ENST00000321322.6	-	26	4851	c.4850C>T	c.(4849-4851)gCg>gTg	p.A1617V	DSCAML1_ENST00000527706.1_Missense_Mutation_p.A1347V	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1557					axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GCCGCAGCCCGCACTGTTGCA	0.642																																						ENST00000321322.6		NA																	0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(4849-4851)gCg>gTg		Down syndrome cell adhesion molecule like 1							93.0	86.0	89.0					11																	117307888		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117307888G>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.4850C>T	11.37:g.117307888G>A	ENSP00000315465:p.Ala1617Val	True	False		Somatic	0				DSCAML1_ENST00000527706.1_Missense_Mutation_p.A1347V	p.A1617V	NM_020693.2	NP_065744.2	WXS	Illumina HiSeq	Phase_I	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	26	4851	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1557					Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.4850C>T	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.639853	0.67244	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.56611	0.45;0.45	4.1	4.1	0.47936	Fibronectin, type III (3);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73916	0.3648	M	0.82132	2.575	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79507	-0.1775	9	0.87932	D	0	.	16.9031	0.86118	0.0:0.0:1.0:0.0	.	1557	Q8TD84	DSCL1_HUMAN	V	1347;1617;1324	ENSP00000434335:A1347V;ENSP00000315465:A1617V	ENSP00000315465:A1617V	A	-	2	0	DSCAML1	116813098	1.000000	0.71417	0.952000	0.39060	0.376000	0.30014	7.807000	0.86032	2.286000	0.76751	0.655000	0.94253	GCG		0.642	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	0	NM_020693		11:117307888
LTN1	26046	broad.mit.edu	37	21	30339377	30339377	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr21:30339377G>A	ENST00000361371.5	-	10	1515	c.1436C>T	c.(1435-1437)aCa>aTa	p.T479I	LTN1_ENST00000389194.2_Missense_Mutation_p.T525I|LTN1_ENST00000389195.2_Missense_Mutation_p.T525I			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	479					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						GTTGTGAGCTGTTTTTTCATC	0.438																																						ENST00000389194.2		NA																	0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						c.(1573-1575)aCa>aTa		listerin E3 ubiquitin protein ligase 1							191.0	168.0	176.0					21																	30339377		2203	4300	6503	SO:0001583	missense	26046						ligase activity|zinc ion binding	g.chr21:30339377G>A	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.1436C>T	21.37:g.30339377G>A	ENSP00000354977:p.Thr479Ile	True	False		Somatic	0				LTN1_ENST00000389195.2_Missense_Mutation_p.T525I|LTN1_ENST00000361371.5_Missense_Mutation_p.T479I	p.T525I	NM_015565.2	NP_056380.2	WXS	Illumina HiSeq	Phase_I	O94822	LTN1_HUMAN			10	1579	-			479					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37	c.1574C>T		.	.	.	.	.	.	.	.	.	.	G	5.755	0.323667	0.10900	.	.	ENSG00000198862	ENST00000389194;ENST00000361371;ENST00000389195	T;T;T	0.23348	2.26;2.27;1.91	5.02	-3.42	0.04825	Armadillo-type fold (1);	1.216900	0.05443	N	0.548099	T	0.18964	0.0455	L	0.27053	0.805	0.09310	N	1	B	0.20887	0.049	B	0.16722	0.016	T	0.32771	-0.9894	10	0.34782	T	0.22	.	12.9181	0.58216	0.5817:0.0:0.4183:0.0	.	479	O94822	LTN1_HUMAN	I	525;479;525	ENSP00000373846:T525I;ENSP00000354977:T479I;ENSP00000373847:T525I	ENSP00000354977:T479I	T	-	2	0	LTN1	29261248	0.000000	0.05858	0.000000	0.03702	0.171000	0.22731	-0.016000	0.12613	-0.604000	0.05760	-0.806000	0.03193	ACA		0.438	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	0	NM_015565		21:30339377
NRXN2	9379	broad.mit.edu	37	11	64410040	64410040	+	Intron	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr11:64410040C>T	ENST00000377551.1	-	16	3615				NRXN2_ENST00000377559.3_Intron|NRXN2_ENST00000409571.1_Intron|NRXN2_ENST00000301894.2_Missense_Mutation_p.R79H|NRXN2_ENST00000265459.6_Intron			Q9P2S2	NRX2A_HUMAN	neurexin 2						adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GAAGGGCATGCGGTTGATGGC	0.726																																						ENST00000301894.2		NA																	0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						c.(235-237)cGc>cAc		neurexin 2							47.0	37.0	40.0					11																	64410040		2201	4296	6497	SO:0001627	intron_variant	9379				cell adhesion	integral to membrane	metal ion binding	g.chr11:64410040C>T		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.3403+5650G>A	11.37:g.64410040C>T		False	False		Somatic	0				NRXN2_ENST00000377551.1_Intron|NRXN2_ENST00000265459.6_Intron|NRXN2_ENST00000409571.1_Intron|NRXN2_ENST00000377559.3_Intron	p.R79H	NM_138734.2	NP_620063.1	WXS	Illumina HiSeq	Phase_I	Q9P2S2	NRX2A_HUMAN			1	747	-			0			Laminin G-like 1.		A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.236G>A	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	c	18.06	3.538779	0.65085	.	.	ENSG00000110076	ENST00000301894;ENST00000423049	T;T	0.60299	0.2;0.71	1.13	1.13	0.20643	.	.	.	.	.	T	0.62221	0.2410	L	0.55990	1.75	0.80722	D	1	D	0.76494	0.999	P	0.59487	0.858	T	0.61217	-0.7107	9	0.46703	T	0.11	.	8.139	0.31071	0.0:1.0:0.0:0.0	.	79	P58401	NRX2B_HUMAN	H	79;40	ENSP00000301894:R79H;ENSP00000407374:R40H	ENSP00000301894:R79H	R	-	2	0	NRXN2	64166616	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	5.961000	0.70356	0.936000	0.37367	0.176000	0.17051	CGC		0.726	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	0	NM_015080		11:64410040
RYR2	6262	broad.mit.edu	37	1	237632473	237632473	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr1:237632473T>C	ENST00000366574.2	+	17	2011	c.1694T>C	c.(1693-1695)cTg>cCg	p.L565P	MIR4428_ENST00000584884.1_RNA|RYR2_ENST00000360064.6_Missense_Mutation_p.L563P|RYR2_ENST00000542537.1_Missense_Mutation_p.L549P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	565					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTGGAAAGACTGGAAGCTTCT	0.358																																						ENST00000366574.2		NA																	0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(1693-1695)cTg>cCg		ryanodine receptor 2 (cardiac)							107.0	106.0	107.0					1																	237632473		1821	4089	5910	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237632473T>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.1694T>C	1.37:g.237632473T>C	ENSP00000355533:p.Leu565Pro	False	False		Somatic	0				RYR2_ENST00000542537.1_Missense_Mutation_p.L549P|RYR2_ENST00000360064.6_Missense_Mutation_p.L563P	p.L565P	NM_001035.2	NP_001026.2	WXS	Illumina HiSeq	Phase_I	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		17	2011	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	565					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.1694T>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	T	16.94	3.260538	0.59431	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.95788	-3.81;-3.81;-3.81	5.14	5.14	0.70334	Intracellular calcium-release channel (1);	0.000000	0.46145	U	0.000314	D	0.96574	0.8882	M	0.63169	1.94	0.80722	D	1	D	0.71674	0.998	D	0.66351	0.943	D	0.96379	0.9280	10	0.51188	T	0.08	.	12.4837	0.55859	0.0:0.0:0.0:1.0	.	565	Q92736	RYR2_HUMAN	P	565;563;549	ENSP00000355533:L565P;ENSP00000353174:L563P;ENSP00000443798:L549P	ENSP00000353174:L563P	L	+	2	0	RYR2	235699096	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.165000	0.77544	1.937000	0.56155	0.460000	0.39030	CTG		0.358	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	0	NM_001035		1:237632473
STS	412	broad.mit.edu	37	X	7223159	7223159	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chrX:7223159G>A	ENST00000217961.4	+	7	1251	c.1031G>A	c.(1030-1032)gGa>gAa	p.G344E		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	344					cellular protein metabolic process (GO:0044267)|epidermis development (GO:0008544)|female pregnancy (GO:0007565)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|steroid catabolic process (GO:0006706)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|steryl-sulfatase activity (GO:0004773)|sulfuric ester hydrolase activity (GO:0008484)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Norelgestromin(DB06713)	TCGGACCAGGGAGCACATGTA	0.458									Ichthyosis																													ENST00000217961.4		NA																	0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27						c.(1030-1032)gGa>gAa		steroid sulfatase (microsomal), isozyme S	Estrone(DB00655)						129.0	108.0	115.0					X																	7223159		2203	4299	6502	SO:0001583	missense	412	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity	g.chrX:7223159G>A	M16505	CCDS14127.1	Xp22.32	2013-06-10	2007-07-19		ENSG00000101846	ENSG00000101846	3.1.6.2	"""Arylsulfatase family"""	11425	protein-coding gene	gene with protein product	"""arylsulfatase C"""	300747	"""steroid sulfatase (microsomal), arylsulfatase C, isozyme S"""	ARSC1			Standard	NM_000351		Approved	ARSC	uc004cry.4	P08842	OTTHUMG00000021102	ENST00000217961.4:c.1031G>A	X.37:g.7223159G>A	ENSP00000217961:p.Gly344Glu	True	False		Somatic	0					p.G344E	NM_000351.4	NP_000342.2	WXS	Illumina HiSeq	Phase_I	P08842	STS_HUMAN			7	1251	+		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)	344					B2RA47	Missense_Mutation	SNP	ENST00000217961.4	37	c.1031G>A	CCDS14127.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.167811	0.38315	.	.	ENSG00000101846	ENST00000217961	D	0.99811	-6.87	3.7	3.7	0.42460	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99885	0.9945	H	0.99825	4.815	0.43107	D	0.994805	D	0.89917	1.0	D	0.97110	1.0	D	0.96487	0.9361	10	0.87932	D	0	.	10.6511	0.45649	0.0:0.0:1.0:0.0	.	344	P08842	STS_HUMAN	E	344	ENSP00000217961:G344E	ENSP00000217961:G344E	G	+	2	0	STS	7233159	1.000000	0.71417	0.030000	0.17652	0.085000	0.17905	5.739000	0.68622	1.615000	0.50252	0.600000	0.82982	GGA		0.458	STS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055686.1	0	NM_000351		X:7223159
ZIC3	7547	broad.mit.edu	37	X	136649486	136649486	+	Silent	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chrX:136649486C>T	ENST00000287538.5	+	1	1186	c.636C>T	c.(634-636)gcC>gcT	p.A212A	ZIC3_ENST00000370606.3_Silent_p.A212A|RP1-137H15.2_ENST00000442841.1_RNA	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	212					anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					CCTACGCGGCCGGCGCTCAGT	0.662																																						ENST00000287538.5		NA																	0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37						c.(634-636)gcC>gcT		Zic family member 3							21.0	25.0	23.0					X																	136649486		2156	4210	6366	SO:0001819	synonymous_variant	7547				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:136649486C>T	AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"""Zinc fingers, C2H2-type"""	12874	protein-coding gene	gene with protein product		300265	"""heterotaxy 1"", ""Zic family member 3 (odd-paired homolog, Drosophila)"""	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.636C>T	X.37:g.136649486C>T		True	False		Somatic	0				ZIC3_ENST00000370606.3_Silent_p.A212A	p.A212A	NM_003413.3	NP_003404.1	WXS	Illumina HiSeq	Phase_I	O60481	ZIC3_HUMAN			1	1186	+	Acute lymphoblastic leukemia(192;0.000127)		212					B2CNW4|Q14DE5|Q5JY75	Silent	SNP	ENST00000287538.5	37	c.636C>T	CCDS14663.1																																																																																				0.662	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058526.1	0			X:136649486
ASB15	142685	broad.mit.edu	37	7	123254593	123254593	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr7:123254593A>G	ENST00000451558.1	+	6	558	c.37A>G	c.(37-39)Aca>Gca	p.T13A	ASB15_ENST00000275699.3_Missense_Mutation_p.T13A|RP11-390E23.3_ENST00000422401.1_RNA|RP11-390E23.3_ENST00000418409.1_RNA|RP11-390E23.3_ENST00000440504.1_RNA|ASB15_ENST00000451215.1_Missense_Mutation_p.T13A|ASB15_ENST00000434204.1_Missense_Mutation_p.T13A|ASB15_ENST00000540573.1_Missense_Mutation_p.T13A			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	13					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						AGACCATCTTACAAGTTATGA	0.363																																						ENST00000451558.1		NA																	0				breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						c.(37-39)Aca>Gca		ankyrin repeat and SOCS box containing 15							211.0	213.0	212.0					7																	123254593		2203	4300	6503	SO:0001583	missense	142685				intracellular signal transduction			g.chr7:123254593A>G	AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"""Ankyrin repeat domain containing"""	19767	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 15"""			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.37A>G	7.37:g.123254593A>G	ENSP00000397655:p.Thr13Ala	False	False		Somatic	0				ASB15_ENST00000540573.1_Missense_Mutation_p.T13A|RP11-390E23.3_ENST00000422401.1_RNA|ASB15_ENST00000434204.1_Missense_Mutation_p.T13A|RP11-390E23.3_ENST00000440504.1_RNA|ASB15_ENST00000275699.3_Missense_Mutation_p.T13A|ASB15_ENST00000451215.1_Missense_Mutation_p.T13A	p.T13A			WXS	Illumina HiSeq	Phase_I	Q8WXK1	ASB15_HUMAN			6	558	+			13					Q3ZCP3|Q3ZCP5|Q68D37	Missense_Mutation	SNP	ENST00000451558.1	37	c.37A>G	CCDS34742.1	.	.	.	.	.	.	.	.	.	.	A	13.89	2.373191	0.42105	.	.	ENSG00000146809	ENST00000451558;ENST00000434204;ENST00000437535;ENST00000451215;ENST00000540573;ENST00000447789;ENST00000275699	T;T;T;T;T;T;T	0.68903	-0.3;-0.3;0.83;-0.3;-0.3;-0.36;-0.3	6.04	1.13	0.20643	.	0.270670	0.31221	N	0.008021	T	0.42899	0.1223	N	0.24115	0.695	0.28159	N	0.929077	B	0.09022	0.002	B	0.06405	0.002	T	0.32534	-0.9903	10	0.02654	T	1	-39.6481	9.3766	0.38286	0.7265:0.0:0.2735:0.0	.	13	Q8WXK1	ASB15_HUMAN	A	13	ENSP00000397655:T13A;ENSP00000390963:T13A;ENSP00000406163:T13A;ENSP00000416433:T13A;ENSP00000438643:T13A;ENSP00000401166:T13A;ENSP00000275699:T13A	ENSP00000275699:T13A	T	+	1	0	ASB15	123041829	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	2.916000	0.48813	-0.029000	0.13827	0.460000	0.39030	ACA		0.363	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1	0			7:123254593
PACSIN1	29993	broad.mit.edu	37	6	34498289	34498289	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr6:34498289A>C	ENST00000538621.1	+	8	1207	c.962A>C	c.(961-963)aAg>aCg	p.K321T	PACSIN1_ENST00000244458.2_Missense_Mutation_p.K321T|PACSIN1_ENST00000374043.2_Missense_Mutation_p.K279T	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	321					actin filament organization (GO:0007015)|establishment of protein localization to plasma membrane (GO:0090002)|membrane tubulation (GO:0097320)|neuron projection morphogenesis (GO:0048812)|positive regulation of dendrite development (GO:1900006)|protein localization to membrane (GO:0072657)|synaptic vesicle endocytosis (GO:0048488)	axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						AAACAGCCTAAGAAGGCAGAG	0.632																																						ENST00000538621.1		NA																	0				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						c.(961-963)aAg>aCg		protein kinase C and casein kinase substrate in neurons 1							108.0	87.0	94.0					6																	34498289		2203	4300	6503	SO:0001583	missense	0				endocytosis		protein kinase activity	g.chr6:34498289A>C	AB037800	CCDS4793.1	6p21.3	2008-02-05			ENSG00000124507	ENSG00000124507			8570	protein-coding gene	gene with protein product	"""syndapin I"""	606512				11179684	Standard	NM_020804		Approved	SDPI	uc003ojp.4	Q9BY11	OTTHUMG00000014547	ENST00000538621.1:c.962A>C	6.37:g.34498289A>C	ENSP00000439639:p.Lys321Thr	False	False		Somatic	0				PACSIN1_ENST00000374043.2_Missense_Mutation_p.K279T|PACSIN1_ENST00000244458.2_Missense_Mutation_p.K321T	p.K321T	NM_001199583.2	NP_001186512.1	WXS	Illumina HiSeq	Phase_I	Q9BY11	PACN1_HUMAN			8	1207	+			321					Q9P2G8	Missense_Mutation	SNP	ENST00000538621.1	37	c.962A>C	CCDS4793.1	.	.	.	.	.	.	.	.	.	.	A	14.77	2.635770	0.47049	.	.	ENSG00000124507	ENST00000244458;ENST00000374043;ENST00000436831;ENST00000538621	T;T;T	0.24538	1.85;1.85;1.85	4.43	4.43	0.53597	.	0.208574	0.48286	D	0.000188	T	0.25717	0.0626	M	0.72118	2.19	0.58432	D	0.999999	D	0.63880	0.993	P	0.53266	0.722	T	0.05835	-1.0861	10	0.18710	T	0.47	-17.1727	13.5105	0.61508	1.0:0.0:0.0:0.0	.	321	Q9BY11	PACN1_HUMAN	T	321;279;321;321	ENSP00000244458:K321T;ENSP00000363155:K279T;ENSP00000439639:K321T	ENSP00000244458:K321T	K	+	2	0	PACSIN1	34606267	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	3.935000	0.56560	1.875000	0.54330	0.374000	0.22700	AAG		0.632	PACSIN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040236.1	0			6:34498289
FLT4	2324	broad.mit.edu	37	5	180039570	180039570	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr5:180039570G>A	ENST00000261937.6	-	26	3551	c.3473C>T	c.(3472-3474)gCg>gTg	p.A1158V	FLT4_ENST00000502649.1_Missense_Mutation_p.A1158V|FLT4_ENST00000393347.3_Missense_Mutation_p.A1158V	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1158	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGCAGGTCTCGCCTTGGGGTC	0.642																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6		NA																	0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(3472-3474)gCg>gTg		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						80.0	82.0	81.0					5																	180039570		2203	4300	6503	SO:0001583	missense	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180039570G>A	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.3473C>T	5.37:g.180039570G>A	ENSP00000261937:p.Ala1158Val	False	False		Somatic	0				FLT4_ENST00000393347.3_Missense_Mutation_p.A1158V|FLT4_ENST00000502649.1_Missense_Mutation_p.A1158V	p.A1158V	NM_182925.4	NP_891555.2	WXS	Illumina HiSeq	Phase_I	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	26	3551	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	1158			Protein kinase.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	c.3473C>T	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	g	15.17	2.754723	0.49362	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649	D;D;D	0.83075	-1.68;-1.68;-1.68	3.57	1.45	0.22620	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.70701	0.3254	N	0.16862	0.45	0.33893	D	0.637638	B;B	0.32203	0.36;0.36	B;B	0.34824	0.19;0.19	T	0.74365	-0.3689	9	0.56958	D	0.05	.	10.3063	0.43683	0.0:0.0:0.301:0.699	.	1158;1158	E9PD35;P35916	.;VGFR3_HUMAN	V	1158	ENSP00000261937:A1158V;ENSP00000377016:A1158V;ENSP00000426057:A1158V	ENSP00000261937:A1158V	A	-	2	0	FLT4	179972176	0.999000	0.42202	0.974000	0.42286	0.708000	0.40852	2.991000	0.49409	0.774000	0.33427	0.457000	0.33378	GCG		0.642	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4	0			5:180039570
CPSF3L	54973	broad.mit.edu	37	1	1254756	1254756	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr1:1254756C>T	ENST00000435064.1	-	4	431	c.349G>A	c.(349-351)Gag>Aag	p.E117K	CPSF3L_ENST00000419704.1_Intron|CPSF3L_ENST00000462432.1_5'Flank|RP5-890O3.9_ENST00000444968.1_RNA|CPSF3L_ENST00000545578.1_Missense_Mutation_p.E88K|CPSF3L_ENST00000540437.1_Missense_Mutation_p.E123K|CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000450926.2_Missense_Mutation_p.E117K|CPSF3L_ENST00000411962.1_Intron	NM_001256460.1|NM_017871.5	NP_001243389.1|NP_060341.2	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	117					snRNA processing (GO:0016180)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		AAGTTGGCCTCGCCCTTCTTG	0.597																																						ENST00000540437.1		NA																	0				endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13						c.(367-369)Gag>Aag		cleavage and polyadenylation specific factor 3-like							201.0	184.0	190.0					1																	1254756		2203	4300	6503	SO:0001583	missense	54973					Golgi apparatus|nucleus	hydrolase activity	g.chr1:1254756C>T	AL136813	CCDS21.1, CCDS57959.1, CCDS57960.1, CCDS57961.1, CCDS72678.1	1p36.33	2008-02-05			ENSG00000127054	ENSG00000127054			26052	protein-coding gene	gene with protein product	"""integrator complex subunit 11"""	611354				15684398, 16239144	Standard	NM_001256456		Approved	FLJ20542, RC-68, CPSF73L, INT11, INTS11	uc001aee.2	Q5TA45	OTTHUMG00000003330	ENST00000435064.1:c.349G>A	1.37:g.1254756C>T	ENSP00000413493:p.Glu117Lys	False	False		Somatic	0				CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000450926.2_Missense_Mutation_p.E117K|CPSF3L_ENST00000419704.1_Intron|CPSF3L_ENST00000435064.1_Missense_Mutation_p.E117K|CPSF3L_ENST00000545578.1_Missense_Mutation_p.E88K|CPSF3L_ENST00000411962.1_Intron	p.E123K	NM_001256456.1	NP_001243385.1	WXS	Illumina HiSeq	Phase_I	Q5TA45	INT11_HUMAN		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)	6	822	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	117					A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9	Missense_Mutation	SNP	ENST00000435064.1	37	c.367G>A	CCDS21.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.371699	0.82573	.	.	ENSG00000127054	ENST00000435064;ENST00000294579;ENST00000540437;ENST00000450926;ENST00000545578;ENST00000434694;ENST00000527719;ENST00000530031;ENST00000534345	T;T;T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.85;0.8;0.87;0.86;0.8	4.61	4.61	0.57282	Beta-lactamase-like (2);	0.112509	0.64402	D	0.000012	T	0.56804	0.2010	L	0.55017	1.72	0.80722	D	1	P;D;P;P	0.64830	0.541;0.994;0.541;0.596	B;P;B;B	0.62491	0.197;0.903;0.197;0.201	T	0.53165	-0.8477	10	0.02654	T	1	-40.1331	17.6427	0.88141	0.0:1.0:0.0:0.0	.	117;136;123;117	Q5TA45-3;Q5TA51;G3V1S5;Q5TA45	.;.;.;INT11_HUMAN	K	117;129;123;117;88;117;123;164;118	ENSP00000413493:E117K;ENSP00000445001:E123K;ENSP00000392848:E117K;ENSP00000444672:E88K;ENSP00000411233:E117K;ENSP00000436743:E123K;ENSP00000432009:E164K;ENSP00000435772:E118K	ENSP00000294579:E129K	E	-	1	0	CPSF3L	1244619	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.580000	0.82523	2.399000	0.81585	0.561000	0.74099	GAG		0.597	CPSF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009360.2	0	NM_017871		1:1254756
GFER	2671	broad.mit.edu	37	16	2034871	2034871	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr16:2034871G>T	ENST00000248114.6	+	2	388	c.382G>T	c.(382-384)Gac>Tac	p.D128Y	GFER_ENST00000567719.1_Missense_Mutation_p.D53Y|AC005606.14_ENST00000564438.1_lincRNA|GFER_ENST00000569451.1_Intron	NM_005262.2	NP_005253.3	P55789	ALR_HUMAN	growth factor, augmenter of liver regeneration	128	ERV/ALR sulfhydryl oxidase. {ECO:0000255|PROSITE-ProRule:PRU00654}.				cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|protein disulfide oxidoreductase activity (GO:0015035)|thiol oxidase activity (GO:0016972)			endometrium(1)|large_intestine(1)|lung(3)	5					Flavin adenine dinucleotide(DB03147)	ACAGCAGCAAGACATGGCCCA	0.567																																						ENST00000248114.6		NA																	0				endometrium(1)|large_intestine(1)|lung(3)	5						c.(382-384)Gac>Tac		growth factor, augmenter of liver regeneration							111.0	108.0	109.0					16																	2034871		2198	4300	6498	SO:0001583	missense	2671				cell proliferation|spermatogenesis	extracellular region|mitochondrial intermembrane space	growth factor activity|thiol oxidase activity	g.chr16:2034871G>T	BC002429	CCDS32368.1	16p13.3-p13.12	2011-06-22	2008-08-01		ENSG00000127554	ENSG00000127554			4236	protein-coding gene	gene with protein product	"""ERV1 homolog (S. cerevisiae)"""	600924	"""growth factor, erv1 (S. cerevisiae)-like (augmenter of liver regeneration)"""			8575761	Standard	NM_005262		Approved	HSS, ERV1, ALR, HERV1, HPO1, HPO2	uc002cob.3	P55789		ENST00000248114.6:c.382G>T	16.37:g.2034871G>T	ENSP00000248114:p.Asp128Tyr	False	False		Somatic	0				GFER_ENST00000569451.1_Intron|GFER_ENST00000567719.1_Missense_Mutation_p.D53Y	p.D128Y	NM_005262.2	NP_005253.3	WXS	Illumina HiSeq	Phase_I	P55789	ALR_HUMAN			2	388	+			128			ERV/ALR sulfhydryl oxidase.		Q53YM6|Q8TAH6|Q9H290|Q9UK40	Missense_Mutation	SNP	ENST00000248114.6	37	c.382G>T	CCDS32368.1	.	.	.	.	.	.	.	.	.	.	G	32	5.125726	0.94429	.	.	ENSG00000127554	ENST00000248114;ENST00000425414	T	0.64991	-0.13	4.52	4.52	0.55395	Erv1/Alr (3);ERV/ALR sulphydryl oxidase (1);	0.050318	0.85682	D	0.000000	T	0.71264	0.3319	M	0.83483	2.645	0.58432	D	0.999999	P;P	0.46064	0.85;0.872	B;P	0.46237	0.258;0.508	T	0.78881	-0.2029	10	0.87932	D	0	-26.419	16.3969	0.83610	0.0:0.0:1.0:0.0	.	54;128	Q9UQK8;P55789	.;ALR_HUMAN	Y	128;48	ENSP00000248114:D128Y	ENSP00000248114:D128Y	D	+	1	0	GFER	1974872	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.026000	0.93700	2.330000	0.79161	0.609000	0.83330	GAC		0.567	GFER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434243.1	0	NM_005262		16:2034871
GPM6B	2824	broad.mit.edu	37	X	13803924	13803924	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chrX:13803924C>T	ENST00000356942.5	-	2	506	c.65G>A	c.(64-66)tGc>tAc	p.C22Y	GPM6B_ENST00000355135.2_Missense_Mutation_p.C62Y|GPM6B_ENST00000398361.3_5'UTR|GPM6B_ENST00000454189.2_Missense_Mutation_p.C3Y|GPM6B_ENST00000493677.1_Missense_Mutation_p.C36Y|GPM6B_ENST00000316715.4_Missense_Mutation_p.C62Y	NM_005278.3	NP_005269.1	Q13491	GPM6B_HUMAN	glycoprotein M6B	22					cell differentiation (GO:0030154)|extracellular matrix assembly (GO:0085029)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of serotonin uptake (GO:0051612)|nervous system development (GO:0007399)|ossification (GO:0001503)|positive regulation of bone mineralization (GO:0030501)|protein transport (GO:0015031)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of focal adhesion assembly (GO:0051893)	integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						GCATTCAAAGCAGCCTGAACC	0.527																																						ENST00000454189.2		NA																	0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						c.(7-9)tGc>tAc		glycoprotein M6B							40.0	35.0	37.0					X																	13803924		2203	4300	6503	SO:0001583	missense	2824				cell differentiation|nervous system development	integral to membrane		g.chrX:13803924C>T		CCDS14158.1, CCDS35206.1, CCDS35207.1, CCDS48084.1	Xp22.2	2010-08-03			ENSG00000046653	ENSG00000046653			4461	protein-coding gene	gene with protein product		300051				8661015	Standard	NM_001001995		Approved	M6B, MGC17150, MGC54284	uc004cvw.3	Q13491	OTTHUMG00000021162	ENST00000356942.5:c.65G>A	X.37:g.13803924C>T	ENSP00000349420:p.Cys22Tyr	False	False		Somatic	0				GPM6B_ENST00000316715.4_Missense_Mutation_p.C62Y|GPM6B_ENST00000355135.2_Missense_Mutation_p.C62Y|GPM6B_ENST00000493677.1_Missense_Mutation_p.C36Y|GPM6B_ENST00000356942.5_Missense_Mutation_p.C22Y|GPM6B_ENST00000398361.3_5'UTR	p.C3Y	NM_001001994.1	NP_001001994.1	WXS	Illumina HiSeq	Phase_I	Q13491	GPM6B_HUMAN			2	135	-			22					O76077|Q86X43|Q8N956	Missense_Mutation	SNP	ENST00000356942.5	37	c.8G>A	CCDS14158.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434116	0.83776	.	.	ENSG00000046653	ENST00000316715;ENST00000454189;ENST00000493677;ENST00000355135;ENST00000356942;ENST00000475307	D;D;D;D;D;D	0.99245	-5.62;-5.62;-5.62;-5.62;-5.62;-5.62	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.99450	0.9805	M	0.82823	2.61	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;0.999	D	0.98897	1.0775	10	0.87932	D	0	-0.0619	18.8027	0.92025	0.0:1.0:0.0:0.0	.	36;3;22;62;14;62	B7Z613;Q13491-2;Q13491;Q13491-3;Q59FD5;Q8N956	.;.;GPM6B_HUMAN;.;.;.	Y	62;3;36;62;22;22	ENSP00000316861:C62Y;ENSP00000389915:C3Y;ENSP00000419904:C36Y;ENSP00000347258:C62Y;ENSP00000349420:C22Y;ENSP00000418594:C22Y	ENSP00000316861:C62Y	C	-	2	0	GPM6B	13713845	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	7.350000	0.79385	2.387000	0.81309	0.600000	0.82982	TGC		0.527	GPM6B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055822.1	0	NM_001001995		X:13803924
SRPK3	26576	broad.mit.edu	37	X	153048258	153048258	+	Silent	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chrX:153048258C>T	ENST00000370101.3	+	6	553	c.507C>T	c.(505-507)caC>caT	p.H169H	SRPK3_ENST00000370104.1_Silent_p.H169H|SRPK3_ENST00000393786.3_Silent_p.H169H|SRPK3_ENST00000370100.1_Silent_p.H127H|SRPK3_ENST00000489426.1_Silent_p.H236H|SRPK3_ENST00000370108.3_Silent_p.H169H	NM_001170760.1|NM_014370.3	NP_001164231.1|NP_055185.2	Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	169	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|muscle tissue development (GO:0060537)|skeletal muscle tissue development (GO:0007519)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCTGGGCCACCAGCTCCTCA	0.652																																					Esophageal Squamous(167;766 3400 32156)	ENST00000489426.1		NA																	0				breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13						c.(706-708)caC>caT		SRSF protein kinase 3							45.0	37.0	40.0					X																	153048258		2202	4295	6497	SO:0001819	synonymous_variant	26576				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity	g.chrX:153048258C>T	AF027406	CCDS35441.1, CCDS55537.1, CCDS55538.1	Xq28	2010-06-23	2010-06-23	2006-08-17	ENSG00000184343	ENSG00000184343			11402	protein-coding gene	gene with protein product			"""serine/threonine kinase 23"", ""SFRS protein kinase 3"""	STK23		16140986	Standard	NM_014370		Approved	MSSK1	uc004fil.3	Q9UPE1	OTTHUMG00000024207	ENST00000370101.3:c.507C>T	X.37:g.153048258C>T		False	False		Somatic	0				SRPK3_ENST00000370104.1_Silent_p.H169H|SRPK3_ENST00000370100.1_Silent_p.H127H|SRPK3_ENST00000370108.3_Silent_p.H169H|SRPK3_ENST00000393786.3_Silent_p.H169H|SRPK3_ENST00000370101.3_Silent_p.H169H	p.H236H			WXS	Illumina HiSeq	Phase_I	Q9UPE1	SRPK3_HUMAN			12	3074	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		169			Protein kinase.		Q13583|Q4F970|Q562F5|Q9UM62	Silent	SNP	ENST00000370101.3	37	c.708C>T	CCDS35441.1	.	.	.	.	.	.	.	.	.	.	C	4.748	0.139064	0.09083	.	.	ENSG00000184343	ENST00000430541	.	.	.	5.77	0.999	0.19862	.	.	.	.	.	T	0.55752	0.1940	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46233	-0.9206	4	.	.	.	-36.8803	8.7166	0.34414	0.0:0.4138:0.0:0.5862	.	.	.	.	I	183	.	.	T	+	2	0	SRPK3	152701452	0.863000	0.29885	0.998000	0.56505	0.360000	0.29518	-0.028000	0.12350	0.040000	0.15660	-0.192000	0.12808	ACC		0.652	SRPK3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354501.1	0	NM_014370		X:153048258
DCHS1	8642	broad.mit.edu	37	11	6650981	6650981	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr11:6650981C>G	ENST00000299441.3	-	11	5368	c.4957G>C	c.(4957-4959)Gag>Cag	p.E1653Q	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1653	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACGCTGTACTCCTGCTGCTGG	0.647																																						ENST00000299441.3		NA																	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(4957-4959)Gag>Cag		dachsous cadherin-related 1							40.0	41.0	41.0					11																	6650981		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6650981C>G	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.4957G>C	11.37:g.6650981C>G	ENSP00000299441:p.Glu1653Gln	True	False		Somatic	0					p.E1653Q	NM_003737.2	NP_003728.1	WXS	Illumina HiSeq	Phase_I	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	11	5368	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	1653			Cadherin 16.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.4957G>C	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	6.206	0.406103	0.11754	.	.	ENSG00000166341	ENST00000299441	T	0.03212	4.01	5.25	5.25	0.73442	Cadherin (2);Cadherin-like (1);	0.136757	0.33144	N	0.005227	T	0.03348	0.0097	N	0.17723	0.515	0.37504	D	0.916866	B	0.22346	0.068	B	0.13407	0.009	T	0.51965	-0.8638	10	0.12766	T	0.61	.	18.0234	0.89261	0.0:1.0:0.0:0.0	.	1653	Q96JQ0	PCD16_HUMAN	Q	1653	ENSP00000299441:E1653Q	ENSP00000299441:E1653Q	E	-	1	0	DCHS1	6607557	0.027000	0.19231	1.000000	0.80357	0.045000	0.14185	2.816000	0.48026	2.744000	0.94065	0.563000	0.77884	GAG		0.647	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	0	NM_003737		11:6650981
RORC	6097	broad.mit.edu	37	1	151789160	151789160	+	Missense_Mutation	SNP	G	G	A	rs546157871		TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr1:151789160G>A	ENST00000318247.6	-	4	385	c.278C>T	c.(277-279)gCg>gTg	p.A93V	RORC_ENST00000480719.1_5'Flank|RORC_ENST00000356728.6_Missense_Mutation_p.A72V|RORC_ENST00000392697.3_Missense_Mutation_p.A147V	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C	93					adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CATGCCCAGCGCCAGGCATTT	0.647													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18073	0.0		0.0	False		,,,				2504	0.0					ENST00000356728.6		NA																	0				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(214-216)gCg>gTg		RAR-related orphan receptor C							33.0	30.0	31.0					1																	151789160		2203	4300	6503	SO:0001583	missense	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:151789160G>A	U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"""Nuclear hormone receptors"""	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.278C>T	1.37:g.151789160G>A	ENSP00000327025:p.Ala93Val	False	False		Somatic	0				RORC_ENST00000392697.3_Missense_Mutation_p.A147V|RORC_ENST00000318247.6_Missense_Mutation_p.A93V	p.A72V	NM_001001523.1	NP_001001523.1	WXS	Illumina HiSeq	Phase_I	P51449	RORG_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		3	369	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		93					Q5SZR9|Q8N5V7|Q8NCY8	Missense_Mutation	SNP	ENST00000318247.6	37	c.215C>T	CCDS1004.1	.	.	.	.	.	.	.	.	.	.	G	35	5.486069	0.96323	.	.	ENSG00000143365	ENST00000356728;ENST00000392697;ENST00000318247	D;D;D	0.97378	-4.36;-4.36;-4.36	5.24	5.24	0.73138	Nuclear hormone receptor, ligand-binding (1);Zinc finger, nuclear hormone receptor-type (4);	0.174286	0.35235	U	0.003342	D	0.98150	0.9389	M	0.78223	2.4	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;1.0;1.0	D;D;D;D	0.75484	0.972;0.933;0.981;0.986	D	0.99342	1.0912	10	0.87932	D	0	.	16.3321	0.83039	0.0:0.0:1.0:0.0	.	93;147;93;72	B6ZGS6;B4DPR1;P51449;F1D8P6	.;.;RORG_HUMAN;.	V	72;147;93	ENSP00000349164:A72V;ENSP00000376461:A147V;ENSP00000327025:A93V	ENSP00000327025:A93V	A	-	2	0	RORC	150055784	1.000000	0.71417	0.949000	0.38748	0.988000	0.76386	4.057000	0.57455	2.436000	0.82500	0.563000	0.77884	GCG		0.647	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036626.1	0			1:151789160
ZDBF2	57683	broad.mit.edu	37	2	207170979	207170979	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr2:207170979C>T	ENST00000374423.3	+	5	2113	c.1727C>T	c.(1726-1728)tCg>tTg	p.S576L		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	576							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AACTATGGATCGAGTTGTTCT	0.438																																						ENST00000374423.3		NA																	0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(1726-1728)tCg>tTg		zinc finger, DBF-type containing 2							97.0	88.0	91.0					2																	207170979		1889	4122	6011	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207170979C>T	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.1727C>T	2.37:g.207170979C>T	ENSP00000363545:p.Ser576Leu	False	False		Somatic	0					p.S576L	NM_020923.1	NP_065974.1	WXS	Illumina HiSeq	Phase_I	Q9HCK1	ZDBF2_HUMAN			5	2113	+			576					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.1727C>T	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.389908	0.82902	.	.	ENSG00000204186	ENST00000374423	T	0.45668	0.89	4.33	4.33	0.51752	.	0.000000	0.35805	N	0.002961	T	0.55529	0.1926	L	0.55481	1.735	0.09310	N	1	D	0.76494	0.999	D	0.64506	0.926	T	0.47262	-0.9131	10	0.72032	D	0.01	.	12.6441	0.56725	0.0:1.0:0.0:0.0	.	576	Q9HCK1	ZDBF2_HUMAN	L	576	ENSP00000363545:S576L	ENSP00000363545:S576L	S	+	2	0	ZDBF2	206879224	0.382000	0.25148	0.012000	0.15200	0.605000	0.37080	1.691000	0.37721	2.694000	0.91930	0.650000	0.86243	TCG		0.438	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	0	NM_020923		2:207170979
BMPR1A	657	broad.mit.edu	37	10	88659808	88659808	+	Missense_Mutation	SNP	G	G	A	rs567009904		TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr10:88659808G>A	ENST00000372037.3	+	7	992	c.455G>A	c.(454-456)cGa>cAa	p.R152Q		NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA	152					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|developmental growth (GO:0048589)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic digit morphogenesis (GO:0042733)|embryonic organ development (GO:0048568)|endocardial cushion formation (GO:0003272)|heart formation (GO:0060914)|hindlimb morphogenesis (GO:0035137)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lateral mesoderm development (GO:0048368)|lung development (GO:0030324)|mesendoderm development (GO:0048382)|mesoderm formation (GO:0001707)|Mullerian duct regression (GO:0001880)|negative regulation of neurogenesis (GO:0050768)|neural crest cell development (GO:0014032)|neural plate mediolateral regionalization (GO:0021998)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|paraxial mesoderm structural organization (GO:0048352)|pituitary gland development (GO:0021983)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of lateral mesodermal cell fate specification (GO:0048378)|somitogenesis (GO:0001756)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway (GO:0007179)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						GGCAGCATTCGATGGCTGGTT	0.353			"""Mis, N, F"""			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2				G|||	1	0.000199681	0.0	0.0	5008	,	,		18353	0.001		0.0	False		,,,				2504	0.0				Ovarian(190;603 2086 22044 30335 47971)	ENST00000372037.3		NA	yes	Rec		Juvenile polyposis	10	10q22.3	657	"""Mis, N, F"""	"""bone morphogenetic protein receptor, type IA"""			E		gastrointestinal polyps			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						c.(454-456)cGa>cAa		bone morphogenetic protein receptor, type IA							103.0	101.0	101.0					10																	88659808		2203	4300	6503	SO:0001583	missense	657	Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HMPS2	BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity	g.chr10:88659808G>A	BC028383	CCDS7378.1	10q22.3	2014-09-17			ENSG00000107779	ENSG00000107779		"""CD molecules"""	1076	protein-coding gene	gene with protein product		601299		ACVRLK3		8397373, 9730621	Standard	NM_004329		Approved	ALK3, CD292	uc001kdy.3	P36894	OTTHUMG00000018657	ENST00000372037.3:c.455G>A	10.37:g.88659808G>A	ENSP00000361107:p.Arg152Gln	False	False		Somatic	0					p.R152Q	NM_004329.2	NP_004320.2	WXS	Illumina HiSeq	Phase_I	P36894	BMR1A_HUMAN			7	992	+			NA					A8K6U9|Q8NEN8	Missense_Mutation	SNP	ENST00000372037.3	37	c.455G>A	CCDS7378.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.402822	0.25291	.	.	ENSG00000107779	ENST00000224764;ENST00000372037	D	0.82803	-1.65	4.77	4.77	0.60923	.	0.114590	0.64402	D	0.000014	T	0.69441	0.3111	N	0.22421	0.69	0.44241	D	0.997087	B	0.10296	0.003	B	0.06405	0.002	T	0.62567	-0.6827	10	0.13108	T	0.6	.	11.4089	0.49915	0.0856:0.0:0.9144:0.0	.	152	P36894	BMR1A_HUMAN	Q	152	ENSP00000361107:R152Q	ENSP00000224764:R152Q	R	+	2	0	BMPR1A	88649788	1.000000	0.71417	0.992000	0.48379	0.981000	0.71138	5.120000	0.64685	2.574000	0.86865	0.563000	0.77884	CGA		0.353	BMPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049170.3	0	NM_004329		10:88659808
PLEKHM1	9842	broad.mit.edu	37	17	43531559	43531559	+	Silent	SNP	G	G	C			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr17:43531559G>C	ENST00000430334.3	-	7	1792	c.1659C>G	c.(1657-1659)ctC>ctG	p.L553L	AC091132.1_ENST00000433601.1_RNA|PLEKHM1_ENST00000421073.2_Silent_p.L464L	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	553	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					GCTCGCAGAAGAGCTCCTTCC	0.627																																						ENST00000430334.3		NA																	0				breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(1657-1659)ctC>ctG		pleckstrin homology domain containing, family M (with RUN domain) member 1							18.0	16.0	17.0					17																	43531559		2202	4297	6499	SO:0001819	synonymous_variant	9842				intracellular signal transduction	cytoplasm	metal ion binding	g.chr17:43531559G>C	X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"""Pleckstrin homology (PH) domain containing"""	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.1659C>G	17.37:g.43531559G>C		False	False		Somatic	0				PLEKHM1_ENST00000421073.2_Silent_p.L464L|AC091132.1_ENST00000433601.1_RNA	p.L553L	NM_014798.2	NP_055613.1	WXS	Illumina HiSeq	Phase_I	Q9Y4G2	PKHM1_HUMAN			7	1792	-	Renal(3;0.0405)		553			PH 1.		Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Silent	SNP	ENST00000430334.3	37	c.1659C>G	CCDS32671.1																																																																																				0.627	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444659.1	0	NM_014798		17:43531559
BEST1	7439	broad.mit.edu	37	11	61719315	61719315	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr11:61719315C>T	ENST00000378043.4	+	2	680	c.37C>T	c.(37-39)Cgc>Tgc	p.R13C	BEST1_ENST00000449131.2_Intron|BEST1_ENST00000534553.1_Intron|BEST1_ENST00000435278.2_Missense_Mutation_p.R13C|BEST1_ENST00000301774.9_Intron|BEST1_ENST00000378042.3_5'UTR	NM_004183.3	NP_004174.1	O76090	BEST1_HUMAN	bestrophin 1	13			R -> H (in VMD2). {ECO:0000269|PubMed:10331951}.		chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|detection of light stimulus involved in visual perception (GO:0050908)|ion transmembrane transport (GO:0034220)|regulation of calcium ion transport (GO:0051924)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	basolateral plasma membrane (GO:0016323)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						GGCTAATGCCCGCTTAGGCTC	0.572																																						ENST00000378043.4		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						c.(37-39)Cgc>Tgc		bestrophin 1							112.0	98.0	103.0					11																	61719315		2202	4299	6501	SO:0001583	missense	7439				response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity	g.chr11:61719315C>T	AF057170	CCDS31580.1, CCDS44623.1	11q12	2013-02-14	2006-10-18	2006-10-18	ENSG00000167995	ENSG00000167995		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	12703	protein-coding gene	gene with protein product	"""Best disease"""	607854	"""vitelliform macular dystrophy 2"""	VMD2		1302019, 17003041	Standard	NM_004183		Approved	BMD, BEST, RP50	uc001nsr.2	O76090	OTTHUMG00000167469	ENST00000378043.4:c.37C>T	11.37:g.61719315C>T	ENSP00000367282:p.Arg13Cys	True	False		Somatic	0				BEST1_ENST00000378042.3_5'UTR|BEST1_ENST00000449131.2_Intron|BEST1_ENST00000534553.1_Intron|BEST1_ENST00000435278.2_Missense_Mutation_p.R13C|BEST1_ENST00000301774.9_Intron	p.R13C	NM_004183.3	NP_004174.1	WXS	Illumina HiSeq	Phase_I	O76090	BEST1_HUMAN			2	680	+			13		R -> H (in VMD2).			A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80	Missense_Mutation	SNP	ENST00000378043.4	37	c.37C>T	CCDS31580.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.752660	0.89753	.	.	ENSG00000167995	ENST00000378043;ENST00000435278	D;D	0.98280	-4.27;-4.84	5.46	5.46	0.80206	.	0.155755	0.44285	U	0.000476	D	0.99202	0.9723	M	0.92367	3.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70487	0.969;0.949	D	0.99289	1.0898	10	0.72032	D	0.01	.	18.9153	0.92503	0.0:1.0:0.0:0.0	.	13;13	B7Z375;O76090	.;BEST1_HUMAN	C	13	ENSP00000367282:R13C;ENSP00000408390:R13C	ENSP00000367282:R13C	R	+	1	0	BEST1	61475891	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	4.891000	0.63185	2.567000	0.86603	0.561000	0.74099	CGC		0.572	BEST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394715.1	0	NM_004183		11:61719315
F5	2153	broad.mit.edu	37	1	169528443	169528443	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr1:169528443C>A	ENST00000367797.3	-	5	879	c.678G>T	c.(676-678)caG>caT	p.Q226H	F5_ENST00000546081.1_Missense_Mutation_p.Q89H|F5_ENST00000367796.3_Missense_Mutation_p.Q226H	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	226	F5/8 type A 1.|Plastocyanin-like 2.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GGGATGATGACTGGCTCCAGC	0.433																																						ENST00000367796.3		NA																	0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(676-678)caG>caT		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						175.0	139.0	151.0					1																	169528443		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169528443C>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.678G>T	1.37:g.169528443C>A	ENSP00000356771:p.Gln226His	False	False		Somatic	0				F5_ENST00000367797.3_Missense_Mutation_p.Q226H|F5_ENST00000546081.1_Missense_Mutation_p.Q89H	p.Q226H			WXS	Illumina HiSeq	Phase_I	P12259	FA5_HUMAN			5	879	-	all_hematologic(923;0.208)		226			F5/8 type A 1.|Plastocyanin-like 2.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.678G>T	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.909285	0.33721	.	.	ENSG00000198734	ENST00000367797;ENST00000367796;ENST00000546081	D;D;D	0.99758	-6.65;-6.65;-6.65	5.95	-2.03	0.07365	Cupredoxin (2);	1.478620	0.03581	N	0.230089	D	0.98128	0.9382	M	0.72118	2.19	0.32970	D	0.522265	P	0.38642	0.641	B	0.38500	0.275	D	0.99973	1.2094	9	0.41790	T	0.15	0.4292	0.4687	0.00528	0.2015:0.285:0.1978:0.3157	.	226	P12259	FA5_HUMAN	H	226;226;89	ENSP00000356771:Q226H;ENSP00000356770:Q226H;ENSP00000439664:Q89H	ENSP00000356770:Q226H	Q	-	3	2	F5	167795067	0.000000	0.05858	0.010000	0.14722	0.944000	0.59088	-0.983000	0.03759	-0.366000	0.08064	0.650000	0.86243	CAG		0.433	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	0	NM_000130		1:169528443
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	WXS	Illumina HiSeq	Phase_I	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	NM_033360		12:25398284
MYH7	4625	broad.mit.edu	37	14	23898246	23898246	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr14:23898246C>T	ENST00000355349.3	-	14	1487	c.1325G>A	c.(1324-1326)cGc>cAc	p.R442H		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	442	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GGCATTGATGCGCGTCACCAT	0.557																																						ENST00000355349.3		NA																	0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	GRCh37	CM066922	MYH7	M		c.(1324-1326)cGc>cAc		myosin, heavy chain 7, cardiac muscle, beta							137.0	118.0	125.0					14																	23898246		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23898246C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.1325G>A	14.37:g.23898246C>T	ENSP00000347507:p.Arg442His	False	False		Somatic	0					p.R442H	NM_000257.2	NP_000248.2	WXS	Illumina HiSeq	Phase_I	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	14	1487	-	all_cancers(95;2.54e-05)		442			Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.1325G>A	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	c	23.5	4.429693	0.83776	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.88741	-2.42	4.18	4.18	0.49190	Myosin head, motor domain (2);	.	.	.	.	D	0.95513	0.8542	M	0.91920	3.255	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96729	0.9538	9	0.87932	D	0	.	16.6862	0.85309	0.0:1.0:0.0:0.0	.	442	P12883	MYH7_HUMAN	H	442	ENSP00000347507:R442H	ENSP00000347507:R442H	R	-	2	0	MYH7	22968086	0.566000	0.26618	0.974000	0.42286	0.583000	0.36354	5.795000	0.69074	2.166000	0.68216	0.455000	0.32223	CGC		0.557	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	0	NM_000257		14:23898246
MEGF6	1953	broad.mit.edu	37	1	3422767	3422767	+	Missense_Mutation	SNP	C	C	T	rs541848126	byFrequency	TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr1:3422767C>T	ENST00000356575.4	-	15	2049	c.1823G>A	c.(1822-1824)cGc>cAc	p.R608H	MEGF6_ENST00000294599.4_Missense_Mutation_p.R503H	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	608	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCATTTCTTGCGACAGTGCTT	0.657													c|||	2	0.000399361	0.0	0.0	5008	,	,		16854	0.002		0.0	False		,,,				2504	0.0				Ovarian(73;978 3658)	ENST00000356575.4		NA																	0				cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1822-1824)cGc>cAc		multiple EGF-like-domains 6							26.0	34.0	32.0					1																	3422767		1995	4139	6134	SO:0001583	missense	1953					extracellular region	calcium ion binding	g.chr1:3422767C>T	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.1823G>A	1.37:g.3422767C>T	ENSP00000348982:p.Arg608His	False	False		Somatic	0				MEGF6_ENST00000294599.4_Missense_Mutation_p.R503H	p.R608H	NM_001409.3	NP_001400.3	WXS	Illumina HiSeq	Phase_I	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	15	2049	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	608			EGF-like 11.		Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	37	c.1823G>A	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	c	10.97	1.502390	0.26949	.	.	ENSG00000162591	ENST00000294599;ENST00000356575	T;T	0.67698	-0.28;-0.28	3.77	-3.8	0.04307	Epidermal growth factor-like, type 3 (1);	0.438446	0.22220	N	0.062976	T	0.44393	0.1291	N	0.26042	0.785	0.20307	N	0.999918	B;B	0.17268	0.013;0.021	B;B	0.19148	0.024;0.008	T	0.17440	-1.0369	10	0.45353	T	0.12	-11.2415	6.3048	0.21133	0.0:0.3423:0.1325:0.5252	.	608;503	O75095;O75095-2	MEGF6_HUMAN;.	H	503;608	ENSP00000294599:R503H;ENSP00000348982:R608H	ENSP00000294599:R503H	R	-	2	0	MEGF6	3412627	0.045000	0.20229	0.141000	0.22245	0.901000	0.52897	0.333000	0.19768	-0.858000	0.04110	-0.494000	0.04653	CGC		0.657	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	0	NM_001409		1:3422767
DHRSX	207063	broad.mit.edu	37	X	2161133	2161133	+	Silent	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chrX:2161133C>T	ENST00000334651.5	-	6	787	c.735G>A	c.(733-735)acG>acA	p.T245T		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	245							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TGTAGACGTCCGTGTTGACCA	0.617																																						ENST00000334651.5		NA																	0				endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16						c.(733-735)acG>acA		dehydrogenase/reductase (SDR family) X-linked							111.0	103.0	106.0					X																	2161133		2203	4296	6499	SO:0001819	synonymous_variant	207063						binding|oxidoreductase activity	g.chrX:2161133C>T	AJ293620	CCDS35195.1	Xp22.33 and Yp11.2	2014-05-07	2003-09-12		ENSG00000169084	ENSG00000169084		"""Pseudoautosomal regions / PAR1"""	18399	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 6"", ""short chain dehydrogenase/reductase family 46C, member 1"", ""dehydrogenase/reductase (SDR family) Y-linked"""		"""dehydrogenase/reductase (SDR family) X chromosome"""			11731500, 19027726	Standard	NM_145177		Approved	DHRS5X, DHRSXY, DHRSY, DHRS5Y, SDR46C1, SDR7C6	uc004cqf.4	Q8N5I4	OTTHUMG00000021068	ENST00000334651.5:c.735G>A	X.37:g.2161133C>T		False	False		Somatic	0					p.T245T	NM_145177.2	NP_660160.2	WXS	Illumina HiSeq	Phase_I	Q8N5I4	DHRSX_HUMAN			6	787	-		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	245					Q6UWC7|Q8WUS4|Q96GR8|Q9NTF6	Silent	SNP	ENST00000334651.5	37	c.735G>A	CCDS35195.1																																																																																				0.617	DHRSX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055617.3	0	NM_145177		X:2161133
KCNB2	9312	broad.mit.edu	37	8	73480175	73480175	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr8:73480175C>A	ENST00000523207.1	+	2	794	c.206C>A	c.(205-207)aCa>aAa	p.T69K		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	69					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	GACTGCAACACACACGAGAGC	0.522																																						ENST00000523207.1		NA																	0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(205-207)aCa>aAa		potassium voltage-gated channel, Shab-related subfamily, member 2							80.0	79.0	79.0					8																	73480175		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73480175C>A	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.206C>A	8.37:g.73480175C>A	ENSP00000430846:p.Thr69Lys	True	False		Somatic	0					p.T69K	NM_004770.2	NP_004761.2	WXS	Illumina HiSeq	Phase_I	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		2	794	+	Breast(64;0.137)		69					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.206C>A	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562910	0.86335	.	.	ENSG00000182674	ENST00000523207	D	0.97041	-4.22	5.71	3.79	0.43588	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.470461	0.15701	U	0.248917	D	0.97235	0.9096	L	0.43598	1.365	0.47905	D	0.999541	P	0.47677	0.899	P	0.60012	0.867	D	0.97404	0.9998	10	0.87932	D	0	.	15.8203	0.78633	0.0:0.7433:0.2567:0.0	.	69	Q92953	KCNB2_HUMAN	K	69	ENSP00000430846:T69K	ENSP00000430846:T69K	T	+	2	0	KCNB2	73642729	0.998000	0.40836	0.971000	0.41717	0.997000	0.91878	3.977000	0.56874	1.404000	0.46819	0.655000	0.94253	ACA		0.522	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	0	NM_004770		8:73480175
RP11-252A24.2	0	broad.mit.edu	37	16	74394734	74394734	+	RNA	SNP	C	C	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr16:74394734C>T	ENST00000429810.2	-	0	231																											TTCCAACAATCGACAGCAACC	0.512																																						ENST00000429810.2		NA																	0					NA																																														0							g.chr16:74394734C>T																													16.37:g.74394734C>T		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	231	-			NA						RNA	SNP	ENST00000429810.2	37																																																																																						0.512	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1	0			16:74394734
OR2G3	81469	broad.mit.edu	37	1	247769183	247769183	+	Missense_Mutation	SNP	C	C	T	rs371726225		TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr1:247769183C>T	ENST00000320002.2	+	1	328	c.296C>T	c.(295-297)gCg>gTg	p.A99V	RNU6-691P_ENST00000516585.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	99						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A99G(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GGTTGTGTGGCGCAACTCTAT	0.483																																						ENST00000320002.2		NA																	1	Substitution - Missense(1)	p.A99G(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50						c.(295-297)gCg>gTg		olfactory receptor, family 2, subfamily G, member 3							299.0	263.0	275.0					1																	247769183		2203	4300	6503	SO:0001583	missense	81469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247769183C>T	BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"""GPCR / Class A : Olfactory receptors"""	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.296C>T	1.37:g.247769183C>T	ENSP00000326301:p.Ala99Val	False	False		Somatic	0				RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	p.A99V	NM_001001914.1	NP_001001914.1	WXS	Illumina HiSeq	Phase_I	Q8NGZ4	OR2G3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	328	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		99					B2RN64|Q5JQT1|Q6IF45	Missense_Mutation	SNP	ENST00000320002.2	37	c.296C>T	CCDS31093.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.048532	0.00394	.	.	ENSG00000177476	ENST00000320002	T	0.00940	5.52	3.8	2.66	0.31614	GPCR, rhodopsin-like superfamily (1);	0.891435	0.08964	N	0.868207	T	0.00666	0.0022	N	0.16567	0.415	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46034	-0.9220	10	0.02654	T	1	.	5.2568	0.15552	0.0:0.2412:0.0:0.7588	.	99	Q8NGZ4	OR2G3_HUMAN	V	99	ENSP00000326301:A99V	ENSP00000326301:A99V	A	+	2	0	OR2G3	245835806	0.000000	0.05858	0.001000	0.08648	0.082000	0.17680	-1.891000	0.01611	0.643000	0.30638	-0.468000	0.05107	GCG		0.483	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097624.1	0			1:247769183
TP53	7157	broad.mit.edu	37	17	7578479	7578479	+	Missense_Mutation	SNP	G	G	T	rs28934874|rs137852790|rs137852791		TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr17:7578479G>T	ENST00000269305.4	-	5	640	c.451C>A	c.(451-453)Ccc>Acc	p.P151T	TP53_ENST00000420246.2_Missense_Mutation_p.P151T|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.P151T|TP53_ENST00000413465.2_Missense_Mutation_p.P151T|TP53_ENST00000445888.2_Missense_Mutation_p.P151T|TP53_ENST00000359597.4_Missense_Mutation_p.P151T	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	151	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874). {ECO:0000269|PubMed:7682763}.|P -> T (in LFS; germline mutation and 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.P151S(68)|p.P151T(16)|p.P151A(13)|p.P152fs*18(9)|p.0?(8)|p.T150fs*16(6)|p.P151fs*30(6)|p.?(5)|p.P58A(2)|p.P58S(2)|p.P19A(2)|p.P19S(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.P58T(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.P19T(1)|p.P152fs*14(1)|p.T18fs*16(1)|p.T150_P151delTP(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)	CCGGGCGGGGGTGTGGAATCA	0.612		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"""		156	Substitution - Missense(107)|Deletion - Frameshift(23)|Whole gene deletion(8)|Deletion - In frame(7)|Insertion - Frameshift(6)|Unknown(5)	p.P151S(68)|p.P151T(16)|p.P151A(13)|p.P152fs*18(9)|p.0?(8)|p.T150fs*16(6)|p.P151fs*30(6)|p.?(5)|p.P58A(2)|p.P58S(2)|p.P19A(2)|p.P19S(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.P58T(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.P19T(1)|p.P152fs*14(1)|p.T18fs*16(1)|p.T150_P151delTP(1)	upper_aerodigestive_tract(20)|large_intestine(17)|ovary(16)|lung(15)|oesophagus(12)|endometrium(11)|stomach(9)|breast(9)|central_nervous_system(7)|liver(7)|skin(7)|haematopoietic_and_lymphoid_tissue(5)|soft_tissue(4)|urinary_tract(4)|prostate(4)|bone(4)|vulva(2)|pancreas(2)|biliary_tract(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	CM012662|CM941326	TP53	M	rs28934874	c.(451-453)Ccc>Acc	Other conserved DNA damage response genes	tumor protein p53							55.0	55.0	55.0					17																	7578479		2203	4300	6503	SO:0001583	missense	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.chr17:7578479G>T	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.451C>A	17.37:g.7578479G>T	ENSP00000269305:p.Pro151Thr	True	False	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)	Somatic	0				TP53_ENST00000455263.2_Missense_Mutation_p.P151T|TP53_ENST00000269305.4_Missense_Mutation_p.P151T|TP53_ENST00000359597.4_Missense_Mutation_p.P151T|TP53_ENST00000413465.2_Missense_Mutation_p.P151T|TP53_ENST00000445888.2_Missense_Mutation_p.P151T	p.P151T	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina HiSeq	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	583	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	151		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	Missense_Mutation	SNP	ENST00000269305.4	37	c.451C>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.136405	0.56936	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99884	-7.49;-7.49;-7.49;-7.49;-7.49;-7.49;-7.49;-7.49;-7.49	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110207	0.64402	D	0.000007	D	0.99894	0.9949	M	0.87038	2.855	0.54753	D	0.999983	D;P;D;D;P;P;D	0.89917	0.999;0.711;0.994;0.982;0.882;0.755;1.0	D;P;D;D;P;P;D	0.97110	0.981;0.749;0.961;0.954;0.736;0.837;1.0	D	0.96419	0.9310	10	0.87932	D	0	-14.1156	17.4784	0.87667	0.0:0.0:1.0:0.0	rs28934874	112;151;151;58;151;151;151	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	T	151;151;151;151;151;151;140;58;19;58;19;151	ENSP00000410739:P151T;ENSP00000352610:P151T;ENSP00000269305:P151T;ENSP00000398846:P151T;ENSP00000391127:P151T;ENSP00000391478:P151T;ENSP00000425104:P19T;ENSP00000423862:P58T;ENSP00000424104:P151T	ENSP00000269305:P151T	P	-	1	0	TP53	7519204	1.000000	0.71417	0.971000	0.41717	0.067000	0.16453	7.823000	0.86660	2.804000	0.96469	0.655000	0.94253	CCC		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	NM_000546		17:7578479
GNL3	26354	broad.mit.edu	37	3	52726994	52726994	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr3:52726994G>T	ENST00000418458.1	+	10	1149	c.976G>T	c.(976-978)Gca>Tca	p.A326S	GNL3_ENST00000394799.2_Missense_Mutation_p.A314S|GLT8D1_ENST00000463827.1_5'Flank|SNORD19B_ENST00000459623.1_RNA|SNORD19_ENST00000410413.1_RNA|SNORD69_ENST00000391150.1_RNA	NM_014366.4|NM_206826.1	NP_055181.3|NP_996562.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	326	Intermediate. {ECO:0000250}.				cell proliferation (GO:0008283)|GTP catabolic process (GO:0006184)|regulation of cell proliferation (GO:0042127)|ribosome biogenesis (GO:0042254)	extracellular space (GO:0005615)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		GCGAAGTCCAGCAAGTATTGA	0.498																																						ENST00000394799.2		NA																	0				breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12						c.(940-942)Gca>Tca		guanine nucleotide binding protein-like 3 (nucleolar)							109.0	101.0	104.0					3																	52726994		2203	4300	6503	SO:0001583	missense	26354				regulation of cell proliferation	nucleolus	GTP binding|protein binding	g.chr3:52726994G>T	AK027514	CCDS2861.1, CCDS43100.1	3p21.1	2005-01-10			ENSG00000163938	ENSG00000163938			29931	protein-coding gene	gene with protein product		608011				11085516, 12464630	Standard	NM_014366		Approved	C77032, E2IG3, MGC800, NS, nucleostemin	uc003dfd.3	Q9BVP2	OTTHUMG00000158752	ENST00000418458.1:c.976G>T	3.37:g.52726994G>T	ENSP00000395772:p.Ala326Ser	False	False		Somatic	0				GNL3_ENST00000418458.1_Missense_Mutation_p.A326S	p.A314S	NM_206825.1	NP_996561.1	WXS	Illumina HiSeq	Phase_I	Q9BVP2	GNL3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)	10	1150	+			326			G.|Intermediate (By similarity).		B2RDC1|Q5PU80|Q96SV6|Q96SV7|Q9UJY0	Missense_Mutation	SNP	ENST00000418458.1	37	c.940G>T	CCDS2861.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.861848	0.51482	.	.	ENSG00000163938	ENST00000418458;ENST00000394799	T;T	0.17528	2.27;2.27	5.91	3.9	0.45041	GTP-binding domain, HSR1-related (1);	0.620210	0.18874	N	0.128751	T	0.08670	0.0215	N	0.11201	0.11	0.36331	D	0.858845	B	0.15141	0.012	B	0.22152	0.038	T	0.11372	-1.0590	10	0.56958	D	0.05	.	4.4031	0.11397	0.3619:0.0:0.6381:0.0	.	326	Q9BVP2	GNL3_HUMAN	S	326;314	ENSP00000395772:A326S;ENSP00000378278:A314S	ENSP00000378278:A314S	A	+	1	0	GNL3	52702034	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.643000	0.54374	1.505000	0.48720	0.650000	0.86243	GCA		0.498	GNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352032.1	0	NM_014366		3:52726994
ZNF681	148213	broad.mit.edu	37	19	23927097	23927097	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr19:23927097C>G	ENST00000402377.3	-	4	1396	c.1255G>C	c.(1255-1257)Gaa>Caa	p.E419Q	ZNF681_ENST00000395385.3_Missense_Mutation_p.E350Q	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	419					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(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TAGGGTTTTTCTCCAGTATGA	0.368																																						ENST00000402377.3		NA																	0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21						c.(1255-1257)Gaa>Caa		zinc finger protein 681							70.0	74.0	73.0					19																	23927097		2203	4300	6503	SO:0001583	missense	148213				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:23927097C>G	AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"""Zinc fingers, C2H2-type"", ""-"""	26457	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31526"""						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.1255G>C	19.37:g.23927097C>G	ENSP00000384000:p.Glu419Gln	True	False		Somatic	0				ZNF681_ENST00000395385.3_Missense_Mutation_p.E350Q	p.E419Q	NM_138286.2	NP_612143.2	WXS	Illumina HiSeq	Phase_I	Q96N22	ZN681_HUMAN			4	1396	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	419					B3KVF7	Missense_Mutation	SNP	ENST00000402377.3	37	c.1255G>C	CCDS12414.2	.	.	.	.	.	.	.	.	.	.	.	10.28	1.307625	0.23821	.	.	ENSG00000196172	ENST00000402377;ENST00000395385	T;T	0.25912	1.77;1.77	1.51	1.51	0.23008	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42988	0.1227	L	0.56769	1.78	0.23820	N	0.996755	D	0.89917	1.0	D	0.83275	0.996	T	0.11916	-1.0568	9	0.66056	D	0.02	.	8.4797	0.33034	0.0:1.0:0.0:0.0	.	419	Q96N22	ZN681_HUMAN	Q	419;350	ENSP00000384000:E419Q;ENSP00000378783:E350Q	ENSP00000378783:E350Q	E	-	1	0	ZNF681	23718937	0.277000	0.24220	0.053000	0.19242	0.038000	0.13279	2.609000	0.46317	0.798000	0.33994	0.313000	0.20887	GAA		0.368	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2	0	NM_138286		19:23927097
MKX	283078	broad.mit.edu	37	10	27964309	27964309	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr10:27964309G>A	ENST00000375790.5	-	7	1340	c.908C>T	c.(907-909)aCg>aTg	p.T303M	MKX_ENST00000419761.1_Missense_Mutation_p.T303M			Q8IYA7	MKX_HUMAN	mohawk homeobox	303					collagen fibril organization (GO:0030199)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|positive regulation of collagen biosynthetic process (GO:0032967)|tendon cell differentiation (GO:0035990)|tendon sheath development (GO:0002932)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in 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)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						CTTCCAATACGTGTCATCCTT	0.458																																						ENST00000375790.5		NA																	0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						c.(907-909)aCg>aTg		mohawk homeobox							250.0	221.0	231.0					10																	27964309		2203	4300	6503	SO:0001583	missense	283078				muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:27964309G>A	BC036207	CCDS7156.1	10p12.1	2011-06-20	2006-03-31	2006-03-31	ENSG00000150051	ENSG00000150051		"""Homeoboxes / TALE class"""	23729	protein-coding gene	gene with protein product		601332	"""chromosome 10 open reading frame 48"", ""iroquois homeobox protein-like 1"""	C10orf48, IRXL1		16408284	Standard	NM_173576		Approved	MGC39616	uc001itx.4	Q8IYA7	OTTHUMG00000017862	ENST00000375790.5:c.908C>T	10.37:g.27964309G>A	ENSP00000364946:p.Thr303Met	False	False		Somatic	0				MKX_ENST00000419761.1_Missense_Mutation_p.T303M	p.T303M			WXS	Illumina HiSeq	Phase_I	Q8IYA7	MKX_HUMAN			7	1340	-			303					B3KWM5	Missense_Mutation	SNP	ENST00000375790.5	37	c.908C>T	CCDS7156.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675117	0.88445	.	.	ENSG00000150051	ENST00000375790;ENST00000419761	T;T	0.19394	2.15;2.15	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.44435	0.1293	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.65987	0.94	T	0.11916	-1.0568	10	0.72032	D	0.01	-26.4697	20.6013	0.99457	0.0:0.0:1.0:0.0	.	303	Q8IYA7	MKX_HUMAN	M	303	ENSP00000364946:T303M;ENSP00000400896:T303M	ENSP00000364946:T303M	T	-	2	0	MKX	28004315	1.000000	0.71417	0.989000	0.46669	0.896000	0.52359	7.322000	0.79097	2.878000	0.98634	0.650000	0.86243	ACG		0.458	MKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047332.3	0	NM_173576		10:27964309
RIMBP2	23504	broad.mit.edu	37	12	130935797	130935797	+	Silent	SNP	G	G	A			TCGA-HZ-A4BK-01A-11D-A26I-08	TCGA-HZ-A4BK-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	805a330c-6335-4dd8-ad62-faa95c624aa9	1d425431-396e-4129-97c6-b5e29cb9daae	g.chr12:130935797G>A	ENST00000261655.4	-	5	559	c.396C>T	c.(394-396)tcC>tcT	p.S132S	RIMBP2_ENST00000535703.1_Silent_p.S40S|RIMBP2_ENST00000536002.1_Silent_p.S40S	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	132					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.S132S(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TGGGCTTGGCGGACAGAGGCT	0.642																																						ENST00000261655.4		NA																	1	Substitution - coding silent(1)	p.S132S(1)	NS(1)	NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(394-396)tcC>tcT		RIMS binding protein 2							59.0	57.0	58.0					12																	130935797		2203	4300	6503	SO:0001819	synonymous_variant	23504					cell junction|synapse		g.chr12:130935797G>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.396C>T	12.37:g.130935797G>A		False	False		Somatic	0				RIMBP2_ENST00000536002.1_Silent_p.S40S|RIMBP2_ENST00000535703.1_Silent_p.S40S	p.S132S	NM_015347.4	NP_056162.4	WXS	Illumina HiSeq	Phase_I	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	5	559	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	132					Q96ID2	Silent	SNP	ENST00000261655.4	37	c.396C>T	CCDS31925.1																																																																																				0.642	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	0	NM_015347		12:130935797
