#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
MRPL15	29088	broad.mit.edu	37	8	55049839	55049839	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr8:55049839A>C	ENST00000260102.4	+	3	349	c.275A>C	c.(274-276)cAg>cCg	p.Q92P		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	92					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.Q92P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			TTCAGACGCCAGTATAAGCCT	0.398																																						ENST00000260102.4																			1	Substitution - Missense(1)	p.Q92P(1)	prostate(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10						c.(274-276)cAg>cCg		mitochondrial ribosomal protein L15							122.0	119.0	120.0					8																	55049839		2203	4300	6503	SO:0001583	missense	29088				translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome	g.chr8:55049839A>C	AB051619	CCDS6158.1	8q11.2-q13	2012-09-13			ENSG00000137547	ENSG00000137547		"""Mitochondrial ribosomal proteins / large subunits"""	14054	protein-coding gene	gene with protein product		611828				11543634	Standard	NM_014175		Approved	RPML7, MRP-L7, HSPC145, L15mt, MRP-L15	uc003xsa.2	Q9P015	OTTHUMG00000164315	ENST00000260102.4:c.275A>C	8.37:g.55049839A>C	ENSP00000260102:p.Gln92Pro						p.Q92P	NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)		3	349	+		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	92					Q96Q54|Q9H0Y1	Missense_Mutation	SNP	ENST00000260102.4	37	c.275A>C	CCDS6158.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.232482	0.79688	.	.	ENSG00000137547	ENST00000260102;ENST00000519831	.	.	.	4.97	4.97	0.65823	Ribosomal protein L18e/L15P (2);	0.000000	0.85682	D	0.000000	T	0.56978	0.2022	L	0.42008	1.315	0.80722	D	1	B	0.21381	0.055	B	0.27715	0.082	T	0.55592	-0.8117	9	0.42905	T	0.14	-26.6787	14.9604	0.71153	1.0:0.0:0.0:0.0	.	92	Q9P015	RM15_HUMAN	P	92	.	ENSP00000260102:Q92P	Q	+	2	0	MRPL15	55212392	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.287000	0.95975	1.985000	0.57927	0.533000	0.62120	CAG		0.398	MRPL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378254.1	NM_014175		55	39	0	0	0	0.048971	0	55	39				
BBS4	585	broad.mit.edu	37	15	73015166	73015166	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr15:73015166T>A	ENST00000268057.4	+	7	478	c.437T>A	c.(436-438)aTa>aAa	p.I146K	BBS4_ENST00000542334.1_5'UTR|BBS4_ENST00000564239.1_3'UTR|BBS4_ENST00000395205.2_Missense_Mutation_p.I154K|BBS4_ENST00000539603.1_Missense_Mutation_p.I134K	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	146	Interaction with PCM1.				adult behavior (GO:0030534)|brain morphogenesis (GO:0048854)|centrosome organization (GO:0051297)|cerebral cortex development (GO:0021987)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|dendrite development (GO:0016358)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|maintenance of protein location in nucleus (GO:0051457)|melanosome transport (GO:0032402)|metabolic process (GO:0008152)|microtubule anchoring at centrosome (GO:0034454)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of systemic arterial blood pressure (GO:0003085)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of cilium assembly (GO:0045724)|positive regulation of multicellular organism growth (GO:0040018)|protein localization to centrosome (GO:0071539)|protein localization to organelle (GO:0033365)|protein transport (GO:0015031)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of cytokinesis (GO:0032465)|regulation of lipid metabolic process (GO:0019216)|retina homeostasis (GO:0001895)|retinal rod cell development (GO:0046548)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)|spermatid development (GO:0007286)|striatum development (GO:0021756)|visual perception (GO:0007601)	BBSome (GO:0034464)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary membrane (GO:0060170)|cilium (GO:0005929)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|dynactin binding (GO:0034452)|microtubule motor activity (GO:0003777)|RNA polymerase II repressing transcription factor binding (GO:0001103)	p.I146K(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						GTTTGCTACATATACCTGAAG	0.373									Bardet-Biedl syndrome																													ENST00000268057.4																			1	Substitution - Missense(1)	p.I146K(1)	prostate(1)	autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						c.(436-438)aTa>aAa		Bardet-Biedl syndrome 4							112.0	105.0	107.0					15																	73015166		2198	4297	6495	SO:0001583	missense	585	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity	g.chr15:73015166T>A	AF090947	CCDS10246.1, CCDS58377.1	15q22.3-q23	2013-01-10			ENSG00000140463	ENSG00000140463		"""Tetratricopeptide (TTC) repeat domain containing"""	969	protein-coding gene	gene with protein product		600374				7711739, 11381270	Standard	NM_033028		Approved		uc002avb.3	Q96RK4	OTTHUMG00000133510	ENST00000268057.4:c.437T>A	15.37:g.73015166T>A	ENSP00000268057:p.Ile146Lys					BBS4_ENST00000395205.2_Missense_Mutation_p.I154K|BBS4_ENST00000542334.1_5'UTR|BBS4_ENST00000564239.1_3'UTR|BBS4_ENST00000539603.1_Missense_Mutation_p.I134K	p.I146K	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN			7	478	+			146			Interaction with PCM1.		B4E178|Q53DZ5|Q8NHU9|Q96H45	Missense_Mutation	SNP	ENST00000268057.4	37	c.437T>A	CCDS10246.1	.	.	.	.	.	.	.	.	.	.	T	12.97	2.098500	0.37048	.	.	ENSG00000140463	ENST00000268057;ENST00000539603;ENST00000395205	T;T;T	0.59772	0.24;0.24;0.24	5.34	4.21	0.49690	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.341254	0.38058	N	0.001828	T	0.36496	0.0969	N	0.17474	0.49	0.80722	D	1	B;B;B	0.24426	0.001;0.103;0.004	B;B;B	0.23574	0.012;0.047;0.027	T	0.09530	-1.0670	10	0.09338	T	0.73	-3.3588	10.3598	0.43987	0.0:0.0786:0.0:0.9214	.	134;154;146	F5H7I8;Q96RK4-2;Q96RK4	.;.;BBS4_HUMAN	K	146;134;154	ENSP00000268057:I146K;ENSP00000442492:I134K;ENSP00000378631:I154K	ENSP00000268057:I146K	I	+	2	0	BBS4	70802219	1.000000	0.71417	0.998000	0.56505	0.816000	0.46133	5.788000	0.69020	0.873000	0.35799	0.455000	0.32223	ATA		0.373	BBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257473.2	NM_033028		18	46	0	0	0	0.049695	0	18	46				
ZC3HC1	51530	broad.mit.edu	37	7	129664155	129664155	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr7:129664155C>A	ENST00000358303.4	-	7	1052	c.968G>T	c.(967-969)cGg>cTg	p.R323L	ZC3HC1_ENST00000311873.5_Missense_Mutation_p.R302L|RNA5SP245_ENST00000364239.1_RNA|ZC3HC1_ENST00000481503.1_Missense_Mutation_p.R280L|RP11-306G20.1_ENST00000480018.1_RNA|ZC3HC1_ENST00000360708.5_Missense_Mutation_p.R323L|RP11-306G20.1_ENST00000587038.1_RNA	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	323					mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein ubiquitination (GO:0016567)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					CATCATCCTCCGAGGAGATTC	0.547																																					Melanoma(115;540 1606 16325 28853 48167)	ENST00000358303.4																			0				endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22						c.(967-969)cGg>cTg		zinc finger, C3HC-type containing 1							67.0	67.0	67.0					7																	129664155		2203	4300	6503	SO:0001583	missense	51530				cell division|mitosis	nucleus	protein kinase binding|zinc ion binding	g.chr7:129664155C>A	AF151050	CCDS34753.1, CCDS64767.1, CCDS75659.1	7q32.2	2013-01-17			ENSG00000091732	ENSG00000091732		"""Zinc fingers, C3HC-type"""	29913	protein-coding gene	gene with protein product	"""nuclear interaction partner of ALK"""					11042152	Standard	XM_005250403		Approved	NIPA	uc003vpi.3	Q86WB0	OTTHUMG00000157648	ENST00000358303.4:c.968G>T	7.37:g.129664155C>A	ENSP00000351052:p.Arg323Leu					RP11-306G20.1_ENST00000480018.1_RNA|ZC3HC1_ENST00000360708.5_Missense_Mutation_p.R323L|RP11-306G20.1_ENST00000587038.1_RNA|ZC3HC1_ENST00000481503.1_Missense_Mutation_p.R280L|ZC3HC1_ENST00000311873.5_Missense_Mutation_p.R302L	p.R323L	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN			7	1052	-	Melanoma(18;0.0435)		323					A6NH66|Q75MF3|Q75MF4|Q8N330|Q96F75|Q9HA34|Q9NVX4|Q9P0R0	Missense_Mutation	SNP	ENST00000358303.4	37	c.968G>T	CCDS34753.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.254627	0.59212	.	.	ENSG00000091732	ENST00000358303;ENST00000360708;ENST00000311873;ENST00000481503	T;T;T;T	0.48522	0.98;0.98;0.98;0.81	5.48	5.48	0.80851	Nuclear-interacting partner of ALK/Rsm1-like (1);	0.199328	0.43260	D	0.000596	T	0.62648	0.2445	M	0.67953	2.075	0.37147	D	0.901971	B;D;D	0.64830	0.089;0.994;0.987	B;D;P	0.65233	0.146;0.933;0.779	T	0.67810	-0.5574	10	0.46703	T	0.11	-17.7321	11.4119	0.49931	0.0:0.917:0.0:0.083	.	323;323;280	Q86WB0-3;Q86WB0;C9J0I9	.;NIPA_HUMAN;.	L	323;323;302;280	ENSP00000351052:R323L;ENSP00000353933:R323L;ENSP00000309301:R302L;ENSP00000418533:R280L	ENSP00000309301:R302L	R	-	2	0	ZC3HC1	129451391	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.220000	0.42908	2.584000	0.87258	0.563000	0.77884	CGG		0.547	ZC3HC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349316.1	NM_016478		3	93	1	0	0.004672	0.004672	0.00528472	3	93				
CCT8L2	150160	broad.mit.edu	37	22	17072407	17072407	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr22:17072407C>T	ENST00000359963.3	-	1	1293	c.1034G>A	c.(1033-1035)gGc>gAc	p.G345D		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	345					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)	p.G345A(1)|p.G345D(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CTGGCACTTGCCTGGCCTCTG	0.547																																						ENST00000359963.3																			2	Substitution - Missense(2)	p.G345A(1)|p.G345D(1)	prostate(1)|liver(1)	breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67						c.(1033-1035)gGc>gAc		chaperonin containing TCP1, subunit 8 (theta)-like 2							95.0	95.0	95.0					22																	17072407		2203	4300	6503	SO:0001583	missense	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17072407C>T	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.1034G>A	22.37:g.17072407C>T	ENSP00000353048:p.Gly345Asp						p.G345D	NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN			1	1293	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	345					A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	c.1034G>A	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	c	10.37	1.330931	0.24167	.	.	ENSG00000198445	ENST00000359963	D	0.94758	-3.51	1.98	1.98	0.26296	.	0.000000	0.40222	U	0.001148	D	0.96386	0.8821	M	0.83774	2.66	0.38063	D	0.936125	D	0.89917	1.0	D	0.97110	1.0	D	0.95842	0.8867	10	0.87932	D	0	-25.166	7.4423	0.27190	0.0:1.0:0.0:0.0	.	345	Q96SF2	TCPQM_HUMAN	D	345	ENSP00000353048:G345D	ENSP00000353048:G345D	G	-	2	0	CCT8L2	15452407	0.070000	0.21116	0.775000	0.31657	0.086000	0.17979	2.959000	0.49153	1.115000	0.41800	0.379000	0.24179	GGC		0.547	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			4	137	0	0	0	0.021553	0	4	137				
CSMD3	114788	broad.mit.edu	37	8	113308235	113308235	+	Splice_Site	SNP	G	G	A	rs369949755		TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr8:113308235G>A	ENST00000297405.5	-	54	8685	c.8441C>T	c.(8440-8442)gCg>gTg	p.A2814V	CSMD3_ENST00000343508.3_Splice_Site_p.A2774V|CSMD3_ENST00000352409.3_Splice_Site_p.A2744V|CSMD3_ENST00000455883.2_Splice_Site_p.A2645V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2814	Sushi 17. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A2814V(1)|p.A2814E(1)		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						ACAATGACCCGCTGAAATACG	0.299										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			2	Substitution - Missense(2)	p.A2814V(1)|p.A2814E(1)	large_intestine(1)|prostate(1)	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.e54-1		CUB and Sushi multiple domains 3		G	VAL/ALA,VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	57.0	56.0	56.0		7934,8441,8321	5.3	1.0	8		56	0,8600		0,0,4300	no	missense-near-splice,missense-near-splice,missense-near-splice	CSMD3	NM_052900.2,NM_198123.1,NM_198124.1	64,64,64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	2645/3539,2814/3708,2774/3668	113308235	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	114788					integral to membrane|plasma membrane		g.chr8:113308235G>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.8441-1C>T	8.37:g.113308235G>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Splice_Site_p.A2744_splice|CSMD3_ENST00000343508.3_Splice_Site_p.A2774_splice|CSMD3_ENST00000455883.2_Splice_Site_p.A2645_splice	p.A2814_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			54	8685	-			2814			Sushi 17.		Q96PZ3	Splice_Site	SNP	ENST00000297405.5	37	c.8440_splice	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.862300	0.71949	2.27E-4	0.0	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83	5.31	5.31	0.75309	Complement control module (2);Sushi/SCR/CCP (1);	0.000000	0.64402	D	0.000001	T	0.40347	0.1113	M	0.76433	2.335	0.80722	D	1	D;P;D	0.55385	0.971;0.95;0.969	P;B;P	0.48400	0.503;0.368;0.576	T	0.24728	-1.0152	10	0.31617	T	0.26	.	18.9718	0.92718	0.0:0.0:1.0:0.0	.	2645;2814;2774	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	2774;2814;2084;2645;2744	ENSP00000345799:A2774V;ENSP00000297405:A2814V;ENSP00000341558:A2084V;ENSP00000412263:A2645V;ENSP00000343124:A2744V	ENSP00000297405:A2814V	A	-	2	0	CSMD3	113377411	1.000000	0.71417	1.000000	0.80357	0.304000	0.27724	6.622000	0.74233	2.480000	0.83734	0.655000	0.94253	GCG		0.299	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	Missense_Mutation	27	28	0	0	0	0.099896	0	27	28				
PCDHGA6	56109	broad.mit.edu	37	5	140754115	140754115	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr5:140754115G>A	ENST00000517434.1	+	1	465	c.465G>A	c.(463-465)atG>atA	p.M155I	PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	155	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.M155I(1)		breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCACTAATGGAGGTCTATG	0.448																																						ENST00000517434.1																			1	Substitution - Missense(1)	p.M155I(1)	prostate(1)	breast(1)|large_intestine(1)	2						c.(463-465)atG>atA									45.0	44.0	44.0					5																	140754115		1898	4118	6016	SO:0001583	missense	0							g.chr5:140754115G>A	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.465G>A	5.37:g.140754115G>A	ENSP00000429601:p.Met155Ile					PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron	p.M155I	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	465	+								A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	ENST00000517434.1	37	c.465G>A	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	10.15	1.270365	0.23221	.	.	ENSG00000253731	ENST00000517434	T	0.49139	0.79	5.11	3.32	0.38043	Cadherin (4);Cadherin-like (1);	33.775500	0.01339	U	0.011506	T	0.27098	0.0664	N	0.03891	-0.335	0.19575	N	0.999962	B;B	0.16166	0.002;0.016	B;B	0.15052	0.004;0.012	T	0.22521	-1.0214	10	0.56958	D	0.05	.	3.5235	0.07751	0.2993:0.1941:0.5065:0.0	.	155;155	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	I	155	ENSP00000429601:M155I	ENSP00000429601:M155I	M	+	3	0	PCDHGA6	140734299	0.000000	0.05858	0.999000	0.59377	0.896000	0.52359	-1.587000	0.02108	1.513000	0.48852	0.563000	0.77884	ATG		0.448	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		3	49	0	0	0	0.004672	0	3	49				
SCAI	286205	broad.mit.edu	37	9	127765792	127765792	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr9:127765792C>G	ENST00000336505.6	-	10	977	c.919G>C	c.(919-921)Gag>Cag	p.E307Q	SCAI_ENST00000487795.1_5'UTR|SCAI_ENST00000373549.4_Missense_Mutation_p.E330Q	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	307					negative regulation of cell migration (GO:0030336)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.E330Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						TTCATTGGCTCCCTTTCCAGA	0.413																																						ENST00000336505.5																			1	Substitution - Missense(1)	p.E330Q(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						c.(919-921)Gag>Cag		suppressor of cancer cell invasion							116.0	109.0	112.0					9																	127765792		1889	4121	6010	SO:0001583	missense	286205				negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity	g.chr9:127765792C>G	AK093983	CCDS43877.1, CCDS48017.1	9q34.11	2009-11-06	2009-07-09	2009-07-09	ENSG00000173611	ENSG00000173611			26709	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 126"""	C9orf126			Standard	NM_173690		Approved	FLJ36664, NET40	uc004bpd.3	Q8N9R8	OTTHUMG00000020667	ENST00000336505.6:c.919G>C	9.37:g.127765792C>G	ENSP00000336756:p.Glu307Gln					SCAI_ENST00000487795.1_5'UTR|SCAI_ENST00000373549.4_Missense_Mutation_p.E330Q	p.E307Q	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN			10	977	-			307					Q3SXZ1|Q3SXZ2|Q5T163|Q8N1I4	Missense_Mutation	SNP	ENST00000336505.6	37	c.919G>C	CCDS48017.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825053	0.90955	.	.	ENSG00000173611	ENST00000336505;ENST00000373549	T;T	0.54479	0.57;0.57	5.05	5.05	0.67936	.	0.097200	0.64402	D	0.000002	T	0.73426	0.3585	M	0.78285	2.405	0.53005	D	0.999966	D;D	0.62365	0.991;0.989	D;D	0.74023	0.982;0.979	T	0.76961	-0.2765	10	0.62326	D	0.03	-13.9199	17.4034	0.87467	0.0:1.0:0.0:0.0	.	307;330	Q8N9R8;Q8N9R8-2	SCAI_HUMAN;.	Q	307;330	ENSP00000336756:E307Q;ENSP00000362650:E330Q	ENSP00000336756:E307Q	E	-	1	0	SCAI	126805613	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.445000	0.80570	2.340000	0.79590	0.455000	0.32223	GAG		0.413	SCAI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054055.3	NM_173690		20	56	0	0	0	0.062417	0	20	56				
TTN	7273	broad.mit.edu	37	2	179585679	179585679	+	Silent	SNP	G	G	A	rs191854953		TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr2:179585679G>A	ENST00000591111.1	-	77	22340	c.22116C>T	c.(22114-22116)gaC>gaT	p.D7372D	RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000589042.1_Silent_p.D7689D|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.D6445D|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	12932	Ig-like 55.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.D6445D(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCAGCTGGCGTCACCAACAC	0.433													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18623	0.0		0.0	False		,,,				2504	0.0					ENST00000589042.1																			1	Substitution - coding silent(1)	p.D6445D(1)	prostate(1)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(23065-23067)gaC>gaT		titin		G	,,,	0,4110		0,0,2055	70.0	71.0	71.0		,19335,,	-12.3	0.0	2		71	1,8415		0,1,4207	no	intron,coding-synonymous,intron,intron	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,1,6262	AA,AG,GG		0.0119,0.0,0.0080	,,,	,6445/33424,,	179585679	1,12525	2055	4208	6263	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179585679G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.22116C>T	2.37:g.179585679G>A						TTN_ENST00000591111.1_Silent_p.D7372D|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.D6445D|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	p.D7689D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		79	23291	-			7372			Ig-like 59.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.23067C>T																																																																																					0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		20	44	0	0	0	0.055883	0	20	44				
MAP2K7	5609	broad.mit.edu	37	19	7975046	7975046	+	Intron	SNP	G	G	A			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr19:7975046G>A	ENST00000397979.3	+	3	387				MAP2K7_ENST00000545011.1_Missense_Mutation_p.G122E|MAP2K7_ENST00000397983.3_Intron|MAP2K7_ENST00000397981.3_Intron|CTD-3193O13.13_ENST00000595655.1_RNA	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7						activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of neuron apoptotic process (GO:0043525)|response to heat (GO:0009408)|response to osmotic stress (GO:0006970)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						GGAGAGGGAGGAGGCCCAGCC	0.672																																						ENST00000545011.1																			0				breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						c.(364-366)gGa>gAa		mitogen-activated protein kinase kinase 7	Etoposide(DB00773)						18.0	20.0	19.0					19																	7975046		1918	4122	6040	SO:0001627	intron_variant	5609				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr19:7975046G>A	AF006689	CCDS42491.1, CCDS74277.1, CCDS74278.1	19p13.3-p13.2	2011-06-09			ENSG00000076984	ENSG00000076984	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6847	protein-coding gene	gene with protein product		603014		PRKMK7		9312068	Standard	XM_005272489		Approved	MKK7, Jnkk2	uc002mit.3	O14733	OTTHUMG00000137368	ENST00000397979.3:c.333+32G>A	19.37:g.7975046G>A						MAP2K7_ENST00000397979.3_Intron|MAP2K7_ENST00000397981.3_Intron|MAP2K7_ENST00000397983.3_Intron	p.G122E			O14733	MP2K7_HUMAN			3	430	+			111			Protein kinase.		B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	Missense_Mutation	SNP	ENST00000397979.3	37	c.365G>A	CCDS42491.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.633899	0.47049	.	.	ENSG00000076984	ENST00000545011	T	0.69040	-0.37	3.85	-7.7	0.01259	.	.	.	.	.	T	0.47746	0.1462	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.43278	-0.9401	5	.	.	.	.	6.8667	0.24098	0.0:0.1904:0.4304:0.3792	.	.	.	.	E	122	ENSP00000443946:G122E	.	G	+	2	0	MAP2K7	7881046	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.201000	0.03026	-1.455000	0.01923	-0.311000	0.09066	GGA		0.672	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000267980.1			5	4	0	0	0	0.021553	0	5	4				
OR2T6	254879	broad.mit.edu	37	1	248551568	248551568	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr1:248551568G>T	ENST00000355728.2	+	1	659	c.659G>T	c.(658-660)aGg>aTg	p.R220M		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCCTACACCAGGATTCTCATC	0.517																																						ENST00000355728.2																			0				endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(658-660)aGg>aTg		olfactory receptor, family 2, subfamily T, member 6							290.0	225.0	247.0					1																	248551568		2203	4300	6503	SO:0001583	missense	254879				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248551568G>T	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.659G>T	1.37:g.248551568G>T	ENSP00000347965:p.Arg220Met						p.R220M	NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	659	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		220					A6NE36	Missense_Mutation	SNP	ENST00000355728.2	37	c.659G>T	CCDS31114.1	.	.	.	.	.	.	.	.	.	.	G	6.574	0.474282	0.12521	.	.	ENSG00000198104	ENST00000355728	T	0.00063	8.78	4.13	-6.11	0.02131	GPCR, rhodopsin-like superfamily (1);	1.076350	0.07316	N	0.876816	T	0.00210	0.0006	M	0.66939	2.045	0.09310	N	1	P	0.38535	0.635	P	0.48598	0.583	T	0.03364	-1.1044	10	0.34782	T	0.22	.	5.2657	0.15597	0.5476:0.0934:0.2644:0.0946	.	220	Q8NHC8	OR2T6_HUMAN	M	220	ENSP00000347965:R220M	ENSP00000347965:R220M	R	+	2	0	OR2T6	246618191	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-3.830000	0.00355	-1.081000	0.03105	-0.148000	0.13756	AGG		0.517	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471		7	106	1	0	0.000274275	0.047766	0.000326293	7	106				
SIRT7	51547	broad.mit.edu	37	17	79873382	79873382	+	Silent	SNP	G	G	A	rs146448282	byFrequency	TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr17:79873382G>A	ENST00000328666.6	-	5	476	c.414C>T	c.(412-414)gcC>gcT	p.A138A		NM_016538.2	NP_057622.1	Q9NRC8	SIR7_HUMAN	sirtuin 7	138	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription on exit from mitosis (GO:0007072)|rRNA transcription (GO:0009303)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleolus organizer region (GO:0005731)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)	p.A138A(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CGCTCAGGTCGGCAGCACTGC	0.652													G|||	3	0.000599042	0.0023	0.0	5008	,	,		18208	0.0		0.0	False		,,,				2504	0.0					ENST00000328666.6																			2	Substitution - coding silent(2)	p.A138A(2)	prostate(2)	breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(412-414)gcC>gcT		sirtuin 7		G		19,4385	26.2+/-53.5	0,19,2183	67.0	58.0	61.0		414	-9.1	0.0	17	dbSNP_134	61	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SIRT7	NM_016538.2		0,21,6481	AA,AG,GG		0.0233,0.4314,0.1615		138/401	79873382	21,12983	2202	4300	6502	SO:0001819	synonymous_variant	51547				chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription	cytoplasm|nucleolus organizer region	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding	g.chr17:79873382G>A	AF233395	CCDS11792.1	17q25.3	2010-06-25	2010-06-25			ENSG00000187531			14935	protein-coding gene	gene with protein product		606212	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 7"", ""sirtuin (silent mating type information regulation 2 homolog) 7 (S. cerevisiae)"""			10873683, 16618798	Standard	NM_016538		Approved		uc002kcj.2	Q9NRC8		ENST00000328666.6:c.414C>T	17.37:g.79873382G>A							p.A138A	NM_016538.2	NP_057622.1	Q9NRC8	SIRT7_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		5	476	-	all_neural(118;0.0878)|Ovarian(332;0.12)		138			Deacetylase sirtuin-type.		A8K2K0|B3KSU8|Q3MIK4|Q9NSZ6|Q9NUS6	Silent	SNP	ENST00000328666.6	37	c.414C>T	CCDS11792.1																																																																																				0.652	SIRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439961.1	NM_016538		3	28	0	0	0	0.004672	0	3	28				
ITIH2	3698	broad.mit.edu	37	10	7780658	7780658	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr10:7780658A>G	ENST00000358415.4	+	16	2198	c.2032A>G	c.(2032-2034)Atc>Gtc	p.I678V	ITIH2_ENST00000379587.4_Missense_Mutation_p.I667V	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	678	O-glycosylated at three sites.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.I678V(1)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AACGCCCGTGATCTCCATGCT	0.552																																						ENST00000358415.4																			1	Substitution - Missense(1)	p.I678V(1)	prostate(1)	NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(2032-2034)Atc>Gtc		inter-alpha-trypsin inhibitor heavy chain 2							127.0	109.0	115.0					10																	7780658		2203	4300	6503	SO:0001583	missense	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7780658A>G	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.2032A>G	10.37:g.7780658A>G	ENSP00000351190:p.Ile678Val					ITIH2_ENST00000379587.4_Missense_Mutation_p.I667V	p.I678V	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN			16	2198	+			678					Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	c.2032A>G	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	A	2.394	-0.339205	0.05243	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	T;T	0.01388	4.95;4.95	5.23	-10.5	0.00291	.	5.882280	0.00541	N	0.000224	T	0.00845	0.0028	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41770	-0.9490	10	0.15499	T	0.54	-0.1401	9.7923	0.40713	0.2158:0.0903:0.6044:0.0895	.	678	P19823	ITIH2_HUMAN	V	678;667	ENSP00000351190:I678V;ENSP00000368906:I667V	ENSP00000351190:I678V	I	+	1	0	ITIH2	7820664	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.476000	0.06591	-2.546000	0.00482	-0.386000	0.06593	ATC		0.552	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		9	75	0	0	0	0.047766	0	9	75				
NKX3-1	4824	broad.mit.edu	37	8	23539041	23539041	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr8:23539041T>G	ENST00000380871.4	-	2	435	c.398A>C	c.(397-399)cAc>cCc	p.H133P	NKX3-1_ENST00000523261.1_Missense_Mutation_p.H58P	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN	NK3 homeobox 1	133					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|androgen receptor signaling pathway (GO:0030521)|branching involved in prostate gland morphogenesis (GO:0060442)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to steroid hormone stimulus (GO:0071383)|cellular response to tumor necrosis factor (GO:0071356)|dorsal aorta development (GO:0035907)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|heart development (GO:0007507)|male gonad development (GO:0008584)|metanephros development (GO:0001656)|mitotic cell cycle arrest (GO:0071850)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of transcription, DNA-templated (GO:0045892)|pharyngeal system development (GO:0060037)|positive regulation of androgen secretion (GO:2000836)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell death (GO:0010942)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein kinase B signaling (GO:0043491)|regulation of transcription, DNA-templated (GO:0006355)|response to testosterone (GO:0033574)|salivary gland development (GO:0007431)|somitogenesis (GO:0001756)|steroid hormone mediated signaling pathway (GO:0043401)	intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|core promoter binding (GO:0001047)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|histone deacetylase binding (GO:0042826)|protein kinase activator activity (GO:0030295)|protein self-association (GO:0043621)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.H133P(1)		large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		CACCTGAGTGTGGGAGAAGGC	0.587																																						ENST00000380871.4																			1	Substitution - Missense(1)	p.H133P(1)	prostate(1)	large_intestine(3)|lung(4)|prostate(5)|skin(2)	14						c.(397-399)cAc>cCc		NK3 homeobox 1							107.0	112.0	110.0					8																	23539041		2203	4300	6503	SO:0001583	missense	4824				negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding	g.chr8:23539041T>G		CCDS6042.1, CCDS59095.1	8p21.2	2012-03-09	2007-07-09	2002-10-04	ENSG00000167034	ENSG00000167034		"""Homeoboxes / ANTP class : NKL subclass"""	7838	protein-coding gene	gene with protein product		602041	"""NK homeobox (Drosophila), family 3, A"", ""NK3 transcription factor related, locus 1 (Drosophila)"""	NKX3A		9226374	Standard	NM_006167		Approved	NKX3.1, BAPX2	uc011kzx.2	Q99801	OTTHUMG00000097851	ENST00000380871.4:c.398A>C	8.37:g.23539041T>G	ENSP00000370253:p.His133Pro					NKX3-1_ENST00000523261.1_Missense_Mutation_p.H58P	p.H133P	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)	2	435	-		Prostate(55;0.114)	133					O15465|Q9H2P4|Q9H2P5|Q9H2P6|Q9H2P7|Q9HBG0	Missense_Mutation	SNP	ENST00000380871.4	37	c.398A>C	CCDS6042.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.308812	0.81247	.	.	ENSG00000167034	ENST00000380871;ENST00000300332;ENST00000523261	D;D	0.95756	-3.8;-3.8	6.17	6.17	0.99709	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.074474	0.52532	D	0.000072	D	0.93648	0.7971	N	0.03071	-0.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95676	0.8728	10	0.72032	D	0.01	.	14.7743	0.69713	0.0:0.0:0.0:1.0	.	133	Q99801	NKX31_HUMAN	P	133;89;58	ENSP00000370253:H133P;ENSP00000429729:H58P	ENSP00000300332:H89P	H	-	2	0	NKX3-1	23594986	1.000000	0.71417	0.999000	0.59377	0.700000	0.40528	8.018000	0.88722	2.371000	0.80710	0.533000	0.62120	CAC		0.587	NKX3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215141.2			90	33	0	0	0	0.048971	0	90	33				
SEC61A1	29927	broad.mit.edu	37	3	127779441	127779441	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr3:127779441A>G	ENST00000243253.3	+	7	737	c.553A>G	c.(553-555)Act>Gct	p.T185A	SEC61A1_ENST00000464451.1_Missense_Mutation_p.T191A|SEC61A1_ENST00000424880.2_Missense_Mutation_p.T65A	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	185					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell growth (GO:0016049)|endoplasmic reticulum organization (GO:0007029)|posttranslational protein targeting to membrane (GO:0006620)|protein targeting to ER (GO:0045047)|response to interferon-gamma (GO:0034341)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)	p.T185A(1)		central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						CTTCATTGCAACTAACATCTG	0.478																																						ENST00000243253.3																			1	Substitution - Missense(1)	p.T185A(1)	prostate(1)	central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						c.(553-555)Act>Gct		Sec61 alpha 1 subunit (S. cerevisiae)							144.0	130.0	135.0					3																	127779441		2203	4300	6503	SO:0001583	missense	29927				protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding	g.chr3:127779441A>G	AF077032	CCDS3046.1	3q21.3	2008-02-05			ENSG00000058262	ENSG00000058262			18276	protein-coding gene	gene with protein product		609213					Standard	NM_013336		Approved		uc003ekb.3	P61619	OTTHUMG00000159624	ENST00000243253.3:c.553A>G	3.37:g.127779441A>G	ENSP00000243253:p.Thr185Ala					SEC61A1_ENST00000424880.2_Missense_Mutation_p.T65A|SEC61A1_ENST00000464451.1_Missense_Mutation_p.T191A	p.T185A	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN			7	737	+			185					P38378|P57726|Q5JPF8|Q8N0Z4|Q8N3U3|Q8NC71|Q9BU16|Q9Y2R3	Missense_Mutation	SNP	ENST00000243253.3	37	c.553A>G	CCDS3046.1	.	.	.	.	.	.	.	.	.	.	A	15.21	2.767208	0.49574	.	.	ENSG00000058262	ENST00000464451;ENST00000243253;ENST00000424880	.	.	.	5.45	5.45	0.79879	SecY subunit domain (2);	0.046064	0.85682	D	0.000000	T	0.45054	0.1323	N	0.20986	0.625	0.80722	D	1	B	0.17268	0.021	B	0.26969	0.075	T	0.34104	-0.9842	9	0.15066	T	0.55	.	15.542	0.76057	1.0:0.0:0.0:0.0	.	185	P61619	S61A1_HUMAN	A	191;185;65	.	ENSP00000243253:T185A	T	+	1	0	SEC61A1	129262131	1.000000	0.71417	0.110000	0.21437	0.411000	0.31082	9.296000	0.96104	2.064000	0.61679	0.533000	0.62120	ACT		0.478	SEC61A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356541.2	NM_013336		29	45	0	0	0	0.037714	0	29	45				
FUK	197258	broad.mit.edu	37	16	70508758	70508758	+	Nonsense_Mutation	SNP	C	C	T	rs562205568		TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr16:70508758C>T	ENST00000288078.6	+	18	2453	c.2221C>T	c.(2221-2223)Cga>Tga	p.R741*	FUK_ENST00000571514.1_Nonsense_Mutation_p.R232*|FUK_ENST00000378912.2_Nonsense_Mutation_p.R773*	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	741						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)	p.R741*(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				CCTGGCTGTGCGAGTGGACGG	0.677																																						ENST00000288078.6																			1	Substitution - Nonsense(1)	p.R741*(1)	prostate(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23						c.(2221-2223)Cga>Tga		fucokinase							10.0	14.0	13.0					16																	70508758		2077	4187	6264	SO:0001587	stop_gained	197258					cytoplasm	ATP binding|fucokinase activity	g.chr16:70508758C>T		CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"""L-fucose kinase"""	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.2221C>T	16.37:g.70508758C>T	ENSP00000288078:p.Arg741*					FUK_ENST00000571514.1_Nonsense_Mutation_p.R232*|FUK_ENST00000378912.2_Nonsense_Mutation_p.R773*	p.R741*	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN			18	2453	+		Ovarian(137;0.0694)	741					Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Nonsense_Mutation	SNP	ENST00000288078.6	37	c.2221C>T	CCDS10891.2	.	.	.	.	.	.	.	.	.	.	C	41	8.884543	0.98990	.	.	ENSG00000157353	ENST00000288078;ENST00000378912;ENST00000538525	.	.	.	5.09	3.01	0.34805	.	0.487973	0.22622	N	0.057687	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-4.61	14.1204	0.65184	0.2708:0.7292:0.0:0.0	.	.	.	.	X	741;773;55	.	ENSP00000288078:R741X	R	+	1	2	FUK	69066259	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	1.758000	0.38410	1.367000	0.46095	0.655000	0.94253	CGA		0.677	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2	NM_145059		4	13	0	0	0	0.014758	0	4	13				
TJP2	9414	broad.mit.edu	37	9	71844114	71844114	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr9:71844114G>C	ENST00000377245.4	+	10	1676	c.1468G>C	c.(1468-1470)Gca>Cca	p.A490P	TJP2_ENST00000453658.2_Missense_Mutation_p.A467P|TJP2_ENST00000348208.4_Missense_Mutation_p.A490P|TJP2_ENST00000535702.1_Missense_Mutation_p.A494P|TJP2_ENST00000539225.1_Missense_Mutation_p.A521P|TJP2_ENST00000265384.7_Missense_Mutation_p.A490P	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	490					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)	p.A490P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						TCAACCAAAAGCAGCCCCGAG	0.388																																						ENST00000377245.4																			1	Substitution - Missense(1)	p.A490P(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						c.(1468-1470)Gca>Cca		tight junction protein 2							204.0	190.0	195.0					9																	71844114		2203	4300	6503	SO:0001583	missense	9414				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	g.chr9:71844114G>C	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.1468G>C	9.37:g.71844114G>C	ENSP00000366453:p.Ala490Pro					TJP2_ENST00000348208.4_Missense_Mutation_p.A490P|TJP2_ENST00000453658.2_Missense_Mutation_p.A467P|TJP2_ENST00000265384.7_Missense_Mutation_p.A490P|TJP2_ENST00000535702.1_Missense_Mutation_p.A494P|TJP2_ENST00000539225.1_Missense_Mutation_p.A521P	p.A490P	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN			10	1676	+			490					A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	ENST00000377245.4	37	c.1468G>C	CCDS6627.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.267649	0.40095	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T	0.09630	2.98;2.96;2.97;2.97;2.97;3.02	5.61	-4.15	0.03881	.	0.426506	0.25027	N	0.033712	T	0.04092	0.0114	N	0.05441	-0.05	0.43531	D	0.995811	B;B;B;B;B	0.13594	0.001;0.001;0.003;0.0;0.008	B;B;B;B;B	0.13407	0.003;0.005;0.005;0.003;0.009	T	0.46775	-0.9167	10	0.05721	T	0.95	.	14.6992	0.69145	0.0976:0.6131:0.2892:0.0	.	521;494;490;490;490	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	P	467;490;490;490;494;521	ENSP00000392178:A467P;ENSP00000366453:A490P;ENSP00000345893:A490P;ENSP00000265384:A490P;ENSP00000442090:A494P;ENSP00000438262:A521P	ENSP00000265384:A490P	A	+	1	0	TJP2	71033934	0.005000	0.15991	0.217000	0.23759	0.982000	0.71751	-0.533000	0.06157	-1.317000	0.02292	0.557000	0.71058	GCA		0.388	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629		7	141	0	0	0	0.029380	0	7	141				
CCNC	892	broad.mit.edu	37	6	100009259	100009259	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr6:100009259A>C	ENST00000520429.1	-	4	723	c.278T>G	c.(277-279)tTg>tGg	p.L93W	CCNC_ENST00000518714.1_Missense_Mutation_p.L93W|CCNC_ENST00000521017.1_5'UTR|CCNC_ENST00000369220.4_Missense_Mutation_p.L93W|CCNC_ENST00000523985.1_Missense_Mutation_p.L8W|CCNC_ENST00000482541.2_Missense_Mutation_p.L93W|CCNC_ENST00000520371.1_Missense_Mutation_p.L93W|CCNC_ENST00000523799.1_Missense_Mutation_p.L8W	NM_001013399.1|NM_005190.3	NP_001013417.1|NP_005181.2	P24863	CCNC_HUMAN	cyclin C	93	Cyclin N-terminal.				gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|mediator complex (GO:0016592)|nucleoplasm (GO:0005654)		p.L93W(1)					all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.064)		TTTGGATGCCAAAAACACACA	0.323																																					GBM(57;273 1020 40094 44454 49348)	ENST00000520429.1																			1	Substitution - Missense(1)	p.L93W(1)	prostate(1)								c.(277-279)tTg>tGg		cyclin C							93.0	100.0	98.0					6																	100009259		2203	4297	6500	SO:0001583	missense	892				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme	protein kinase binding	g.chr6:100009259A>C		CCDS34502.1, CCDS47461.1	6q21	2008-02-05			ENSG00000112237	ENSG00000112237			1581	protein-coding gene	gene with protein product		123838				1833066	Standard	XM_005267202		Approved	CycC	uc003pqe.3	P24863	OTTHUMG00000015268	ENST00000520429.1:c.278T>G	6.37:g.100009259A>C	ENSP00000428982:p.Leu93Trp					CCNC_ENST00000518714.1_Missense_Mutation_p.L93W|CCNC_ENST00000523985.1_Missense_Mutation_p.L8W|CCNC_ENST00000520371.1_Missense_Mutation_p.L93W|CCNC_ENST00000521017.1_5'UTR|CCNC_ENST00000482541.2_Missense_Mutation_p.L93W|CCNC_ENST00000523799.1_Missense_Mutation_p.L8W|CCNC_ENST00000369220.4_Missense_Mutation_p.L93W	p.L93W	NM_001013399.1|NM_005190.3	NP_001013417.1|NP_005181.2	P24863	CCNC_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.064)	4	723	-		all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)	93			Cyclin N-terminal.		B4DPZ1|Q9H543	Missense_Mutation	SNP	ENST00000520429.1	37	c.278T>G	CCDS34502.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.671677	0.88348	.	.	ENSG00000112237	ENST00000520429;ENST00000369220;ENST00000520371;ENST00000523799;ENST00000486428;ENST00000523985;ENST00000518714;ENST00000524049;ENST00000369217;ENST00000482541	T;T;T;T;T;T;T;T;T;T	0.62788	1.96;1.96;1.96;0.0;1.96;0.0;1.96;0.21;1.96;1.96	5.76	5.76	0.90799	Cyclin, N-terminal (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	D	0.85427	0.5694	H	0.98133	4.155	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.90931	0.4790	9	.	.	.	-5.9622	16.3695	0.83350	1.0:0.0:0.0:0.0	.	93;126;93	Q7Z4L3;Q05CF7;P24863	.;.;CCNC_HUMAN	W	93;93;93;8;39;8;93;8;140;93	ENSP00000428982:L93W;ENSP00000358222:L93W;ENSP00000430381:L93W;ENSP00000430014:L8W;ENSP00000430077:L39W;ENSP00000430119:L8W;ENSP00000430294:L93W;ENSP00000427885:L8W;ENSP00000428472:L140W;ENSP00000417072:L93W	.	L	-	2	0	CCNC	100115980	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.172000	0.94808	2.315000	0.78130	0.533000	0.62120	TTG		0.323	CCNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041613.2	NM_005190		4	75	0	0	0	0.021553	0	4	75				
EIF4H	7458	broad.mit.edu	37	7	73604629	73604629	+	Silent	SNP	C	C	T			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr7:73604629C>T	ENST00000265753.8	+	5	601	c.462C>T	c.(460-462)ttC>ttT	p.F154F	EIF4H_ENST00000495187.1_3'UTR|MIR590_ENST00000385008.1_RNA|EIF4H_ENST00000353999.6_Intron	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	154	HHV-1 Vhs binding site.				cellular protein metabolic process (GO:0044267)|developmental growth (GO:0048589)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|sexual reproduction (GO:0019953)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.F154F(1)		endometrium(1)|lung(2)|prostate(1)	4						GGGATGACTTCAATTCTGGTA	0.453																																						ENST00000265753.8																			1	Substitution - coding silent(1)	p.F154F(1)	prostate(1)	endometrium(1)|lung(2)|prostate(1)	4						c.(460-462)ttC>ttT		eukaryotic translation initiation factor 4H							129.0	128.0	128.0					7																	73604629		2203	4300	6503	SO:0001819	synonymous_variant	7458				interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity	g.chr7:73604629C>T		CCDS5564.1, CCDS5565.1	7q11.23	2013-02-12	2006-11-27	2006-11-27	ENSG00000106682	ENSG00000106682		"""RNA binding motif (RRM) containing"""	12741	protein-coding gene	gene with protein product		603431	"""Williams-Beuren syndrome chromosome region 1"""	WBSCR1		9516461, 15078951	Standard	NM_022170		Approved	WSCR1, KIAA0038	uc003uad.1	Q15056	OTTHUMG00000023025	ENST00000265753.8:c.462C>T	7.37:g.73604629C>T						EIF4H_ENST00000353999.6_Intron|EIF4H_ENST00000495187.1_3'UTR	p.F154F	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN			5	601	+			154			HHV-1 Vhs binding site.		A8K3R1|D3DXF6|D3DXF8	Silent	SNP	ENST00000265753.8	37	c.462C>T	CCDS5564.1																																																																																				0.453	EIF4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252375.2	NM_022170		14	26	0	0	0	0.038395	0	14	26				
PIK3R4	30849	broad.mit.edu	37	3	130435328	130435328	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr3:130435328C>T	ENST00000356763.3	-	9	2800	c.2243G>A	c.(2242-2244)cGt>cAt	p.R748H		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	748					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R748H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TTTCTTCTGACGCATGTGAAG	0.443																																						ENST00000356763.3																			1	Substitution - Missense(1)	p.R748H(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						c.(2242-2244)cGt>cAt		phosphoinositide-3-kinase, regulatory subunit 4							104.0	104.0	104.0					3																	130435328		2203	4300	6503	SO:0001583	missense	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130435328C>T	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.2243G>A	3.37:g.130435328C>T	ENSP00000349205:p.Arg748His						p.R748H	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN			9	2800	-			748					Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	c.2243G>A	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	C	34	5.297477	0.95574	.	.	ENSG00000196455	ENST00000356763;ENST00000508273;ENST00000507330;ENST00000512430	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.21	5.21	0.72293	.	0.104318	0.64402	D	0.000003	T	0.63965	0.2556	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65676	-0.6110	10	0.59425	D	0.04	-17.763	18.7681	0.91881	0.0:1.0:0.0:0.0	.	748	Q99570	PI3R4_HUMAN	H	748;107;107;107	ENSP00000349205:R748H;ENSP00000427302:R107H;ENSP00000424274:R107H;ENSP00000422767:R107H	ENSP00000349205:R748H	R	-	2	0	PIK3R4	131918018	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.439000	0.82584	0.655000	0.94253	CGT		0.443	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		5	101	0	0	0	0.014758	0	5	101				
BIRC6	57448	broad.mit.edu	37	2	32824954	32824954	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr2:32824954A>C	ENST00000421745.2	+	70	14113	c.13979A>C	c.(13978-13980)tAt>tCt	p.Y4660S		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4660	Ubiquitin-conjugating.				apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.Y4660S(2)|p.Y4632S(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CCAAACCTTTATAATGATGGC	0.333																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			3	Substitution - Missense(3)	p.Y4660S(2)|p.Y4632S(1)	prostate(3)	NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(13978-13980)tAt>tCt		baculoviral IAP repeat containing 6							84.0	81.0	82.0					2																	32824954		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32824954A>C	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.13979A>C	2.37:g.32824954A>C	ENSP00000393596:p.Tyr4660Ser						p.Y4660S	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			70	14113	+	Acute lymphoblastic leukemia(172;0.155)		4660			Ubiquitin-conjugating.		Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.13979A>C	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	A	25.3	4.619665	0.87460	.	.	ENSG00000115760	ENST00000421745	T	0.38077	1.16	5.69	5.69	0.88448	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.60663	0.2286	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.64558	-0.6379	10	0.87932	D	0	.	15.9573	0.79896	1.0:0.0:0.0:0.0	.	4660	Q9NR09	BIRC6_HUMAN	S	4660	ENSP00000393596:Y4660S	ENSP00000393596:Y4660S	Y	+	2	0	BIRC6	32678458	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	8.962000	0.93254	2.156000	0.67533	0.528000	0.53228	TAT		0.333	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		3	39	0	0	0	0.004672	0	3	39				
CHD1	1105	broad.mit.edu	37	5	98218811	98218811	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr5:98218811C>T	ENST00000284049.3	-	18	2848	c.2699G>A	c.(2698-2700)cGa>cAa	p.R900Q		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	900	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)	p.R900Q(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TTGCCCAATTCGATGGGCTCT	0.338																																						ENST00000284049.3																			1	Substitution - Missense(1)	p.R900Q(1)	prostate(1)	NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49						c.(2698-2700)cGa>cAa		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						35.0	33.0	34.0					5																	98218811		2203	4300	6503	SO:0001583	missense	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98218811C>T	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.2699G>A	5.37:g.98218811C>T	ENSP00000284049:p.Arg900Gln						p.R900Q	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	18	2848	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	900			Helicase C-terminal.		Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	37	c.2699G>A	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	C	34	5.394381	0.96009	.	.	ENSG00000153922	ENST00000284049	D	0.97870	-4.58	5.27	5.27	0.74061	Helicase, C-terminal (3);	0.000000	0.29009	U	0.013428	D	0.99426	0.9797	H	0.99498	4.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98113	1.0421	10	0.87932	D	0	.	19.2691	0.94002	0.0:1.0:0.0:0.0	.	900	O14646	CHD1_HUMAN	Q	900	ENSP00000284049:R900Q	ENSP00000284049:R900Q	R	-	2	0	CHD1	98246711	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	2.630000	0.89119	0.591000	0.81541	CGA		0.338	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		10	22	0	0	0	0.058154	0	10	22				
TAOK2	9344	broad.mit.edu	37	16	29996717	29996717	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr16:29996717G>T	ENST00000308893.4	+	14	2649	c.1606G>T	c.(1606-1608)Ggg>Tgg	p.G536W	TAOK2_ENST00000279394.3_Missense_Mutation_p.G536W|TAOK2_ENST00000416441.2_Missense_Mutation_p.G363W|TAOK2_ENST00000543033.1_Missense_Mutation_p.G536W	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	536					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)	p.G536W(3)		breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GGCTGGCTTTGGGGCAGAGGC	0.672																																						ENST00000308893.4																			3	Substitution - Missense(3)	p.G536W(3)	prostate(3)	breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(1606-1608)Ggg>Tgg		TAO kinase 2							16.0	16.0	16.0					16																	29996717		2189	4294	6483	SO:0001583	missense	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29996717G>T	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.1606G>T	16.37:g.29996717G>T	ENSP00000310094:p.Gly536Trp					TAOK2_ENST00000543033.1_Missense_Mutation_p.G536W|TAOK2_ENST00000416441.2_Missense_Mutation_p.G363W|TAOK2_ENST00000279394.3_Missense_Mutation_p.G536W	p.G536W	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			14	2649	+			536					A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	37	c.1606G>T	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.427569	0.62733	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	T;T;T	0.42513	0.97;0.97;0.97	5.51	5.51	0.81932	.	0.189593	0.44483	D	0.000458	T	0.52451	0.1735	L	0.40543	1.245	0.39482	D	0.967902	D;D;D;D;D	0.89917	0.999;1.0;0.982;0.969;0.999	D;D;D;P;D	0.74674	0.924;0.984;0.915;0.781;0.972	T	0.49862	-0.8894	9	.	.	.	.	11.8049	0.52150	0.0:0.0:0.7184:0.2815	.	727;363;536;536;536	Q86V37;Q9UL54-3;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;.;TAOK2_HUMAN	W	536	ENSP00000310094:G536W;ENSP00000440336:G536W;ENSP00000279394:G536W	.	G	+	1	0	TAOK2	29904218	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	4.396000	0.59684	2.580000	0.87095	0.563000	0.77884	GGG		0.672	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		8	10	1	0	0.00307968	0.038147	0.00354163	8	10				
TBX3	6926	broad.mit.edu	37	12	115110035	115110035	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr12:115110035A>C	ENST00000257566.3	-	8	2232	c.1843T>G	c.(1843-1845)Tcc>Gcc	p.S615A	TBX3_ENST00000349155.2_Missense_Mutation_p.S595A	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	615	Transcription repression.				anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S615A(1)		breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		GCCGCAGAGGAGGCGGCCGCC	0.662																																						ENST00000349155.2																			1	Substitution - Missense(1)	p.S615A(1)	prostate(1)	breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1783-1785)Tcc>Gcc		T-box 3							6.0	6.0	6.0					12																	115110035		1962	3956	5918	SO:0001583	missense	6926				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	g.chr12:115110035A>C	BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.1843T>G	12.37:g.115110035A>C	ENSP00000257566:p.Ser615Ala					TBX3_ENST00000257566.3_Missense_Mutation_p.S615A	p.S595A	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0574)	7	2746	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		615			Transcription repression.		Q8TB20|Q9UKF8	Missense_Mutation	SNP	ENST00000257566.3	37	c.1783T>G	CCDS9176.1	.	.	.	.	.	.	.	.	.	.	A	2.080	-0.411004	0.04799	.	.	ENSG00000135111	ENST00000349155;ENST00000257566	D;D	0.87103	-2.21;-2.14	4.35	3.18	0.36537	.	0.596637	0.19583	N	0.110813	T	0.69142	0.3078	N	0.08118	0	0.47584	D	0.999467	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.002	T	0.59252	-0.7489	10	0.02654	T	1	.	9.9418	0.41585	0.8284:0.1715:0.0:0.0	.	595;615	O15119-2;O15119	.;TBX3_HUMAN	A	595;615	ENSP00000257567:S595A;ENSP00000257566:S615A	ENSP00000257566:S615A	S	-	1	0	TBX3	113594418	1.000000	0.71417	0.961000	0.40146	0.686000	0.39977	3.588000	0.53964	0.516000	0.28340	-0.313000	0.08912	TCC		0.662	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996		3	7	0	0	0	0.004672	0	3	7				
RP11-156P1.2	0	broad.mit.edu	37	17	45127331	45127331	+	IGR	SNP	C	C	A			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr17:45127331C>A	ENST00000571841.1	+	0	889				LRRC37A17P_ENST00000570478.1_RNA|RP11-156P1.3_ENST00000575173.1_RNA																							AACTCGCTCCCGCATGACCCA	0.418																																						ENST00000575173.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:45127331C>A																													17.37:g.45127331C>A														0	418	-									RNA	SNP	ENST00000571841.1	37																																																																																						0.418	RP11-156P1.2-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000440447.1			55	339	1	0	1.53134e-21	0.048971	1.88683e-21	55	339				
CROCCP2	84809	broad.mit.edu	37	1	16946407	16946407	+	lincRNA	SNP	T	T	G	rs10796418		TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr1:16946407T>G	ENST00000412962.1	-	0	1112				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AGCAATCTCCTCACTCAGCTG	0.672																																						ENST00000412962.1																			0																																																			0							g.chr1:16946407T>G	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946407T>G														0	1112	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		5	27	0	0	0	0.029380	0	5	27				
PIP5K1C	23396	broad.mit.edu	37	19	3651957	3651957	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr19:3651957C>T	ENST00000335312.3	-	8	1082	c.994G>A	c.(994-996)Gag>Aag	p.E332K	PIP5K1C_ENST00000589578.1_Missense_Mutation_p.E332K|PIP5K1C_ENST00000539785.1_Missense_Mutation_p.E332K|PIP5K1C_ENST00000537021.1_Missense_Mutation_p.E332K|PIP5K1C_ENST00000587482.1_5'UTR	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	332	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				actin cytoskeleton organization (GO:0030036)|adherens junction assembly (GO:0034333)|axon guidance (GO:0007411)|clathrin-mediated endocytosis (GO:0072583)|cytoskeletal anchoring at plasma membrane (GO:0007016)|neutrophil chemotaxis (GO:0030593)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet aggregation (GO:0070527)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)	p.E332K(1)		large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		GCCTGCCGCTCGCGCTCGTGC	0.652																																					Esophageal Squamous(135;99 1744 12852 27186 39851)	ENST00000335312.3																			1	Substitution - Missense(1)	p.E332K(1)	prostate(1)	large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9						c.(994-996)Gag>Aag		phosphatidylinositol-4-phosphate 5-kinase, type I, gamma							37.0	38.0	38.0					19																	3651957		2200	4295	6495	SO:0001583	missense	23396				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding	g.chr19:3651957C>T	AB011161	CCDS32872.1, CCDS56074.1, CCDS74257.1	19p13.3	2012-10-02			ENSG00000186111	ENSG00000186111			8996	protein-coding gene	gene with protein product		606102				9535851	Standard	NM_001195733		Approved	PIP5Kgamma, KIAA0589, LCCS3	uc002lyj.2	O60331	OTTHUMG00000180870	ENST00000335312.3:c.994G>A	19.37:g.3651957C>T	ENSP00000335333:p.Glu332Lys					PIP5K1C_ENST00000589578.1_Missense_Mutation_p.E332K|PIP5K1C_ENST00000539785.1_Missense_Mutation_p.E332K|PIP5K1C_ENST00000537021.1_Missense_Mutation_p.E332K|PIP5K1C_ENST00000587482.1_5'UTR	p.E332K	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)	8	1082	-		Hepatocellular(1079;0.137)	332			PIPK.		B7Z9E7|C6GIJ7|C6GIJ8|Q7LE07	Missense_Mutation	SNP	ENST00000335312.3	37	c.994G>A	CCDS32872.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.696993	0.48202	.	.	ENSG00000186111	ENST00000335312;ENST00000539785;ENST00000537021	T;T;T	0.32753	1.44;1.44;1.44	4.37	2.18	0.27775	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.32164	0.0820	M	0.73962	2.25	0.48830	D	0.999713	P;P	0.47253	0.868;0.892	B;B	0.41571	0.245;0.36	T	0.10989	-1.0606	10	0.62326	D	0.03	-28.4608	8.4575	0.32908	0.0:0.7573:0.1555:0.0872	.	332;332	O60331-3;O60331	.;PI51C_HUMAN	K	332	ENSP00000335333:E332K;ENSP00000445992:E332K;ENSP00000444779:E332K	ENSP00000335333:E332K	E	-	1	0	PIP5K1C	3602957	1.000000	0.71417	0.556000	0.28293	0.349000	0.29174	6.010000	0.70753	0.283000	0.22279	-0.339000	0.08088	GAG		0.652	PIP5K1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453432.2	NM_012398		15	37	0	0	0	0.038395	0	15	37				
SLC6A5	9152	broad.mit.edu	37	11	20622883	20622883	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr11:20622883A>G	ENST00000525748.1	+	2	485	c.212A>G	c.(211-213)gAg>gGg	p.E71G		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	71					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)	p.E71G(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CGAGCCTGCGAGGCTGAGCGG	0.721																																						ENST00000525748.1																			1	Substitution - Missense(1)	p.E71G(1)	prostate(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63						c.(211-213)gAg>gGg		solute carrier family 6 (neurotransmitter transporter), member 5	Glycine(DB00145)						5.0	7.0	6.0					11																	20622883		2103	4119	6222	SO:0001583	missense	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20622883A>G	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.212A>G	11.37:g.20622883A>G	ENSP00000434364:p.Glu71Gly						p.E71G	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN			2	485	+			71					O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	c.212A>G	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	A	16.23	3.065039	0.55432	.	.	ENSG00000165970	ENST00000525748	T	0.74209	-0.82	5.7	5.7	0.88788	.	1.070250	0.07034	N	0.828922	T	0.66674	0.2813	N	0.19112	0.55	0.22591	N	0.998953	B	0.02656	0.0	B	0.01281	0.0	T	0.56992	-0.7887	10	0.72032	D	0.01	.	14.7928	0.69854	1.0:0.0:0.0:0.0	.	71	Q9Y345	SC6A5_HUMAN	G	71	ENSP00000434364:E71G	ENSP00000298923:E71G	E	+	2	0	SLC6A5	20579459	1.000000	0.71417	0.997000	0.53966	0.923000	0.55619	4.085000	0.57657	2.176000	0.68965	0.379000	0.24179	GAG		0.721	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		6	6	0	0	0	0.029380	0	6	6				
CSH1	1442	broad.mit.edu	37	17	61972640	61972640	+	Intron	SNP	C	C	T			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr17:61972640C>T	ENST00000316193.8	-	5	598				CSH1_ENST00000453363.3_Intron|CSH1_ENST00000329882.8_Missense_Mutation_p.E217K	NM_001317.5	NP_001308.1	P0DML2	CSH1_HUMAN	chorionic somatomammotropin hormone 1 (placental lactogen)							extracellular region (GO:0005576)	metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						CTCCCTCTCTCATTTATCCAT	0.557									Russell-Silver syndrome																													ENST00000329882.8																			0				central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						c.(649-651)Gag>Aag		chorionic somatomammotropin hormone 1 (placental lactogen)							82.0	83.0	83.0					17																	61972640		2194	4300	6494	SO:0001627	intron_variant	1442	Russell-Silver syndrome	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding	g.chr17:61972640C>T	J00118	CCDS11649.1	17q22-q24	2008-07-18				ENSG00000136488			2440	protein-coding gene	gene with protein product	"""chorionic somatomammotropin A"", ""placental lactogen"", ""choriomammotropin"""	150200				6208192	Standard	NM_001317		Approved	hCS-A, CSA, PL, CSMT, FLJ75407	uc002jcs.2	P0DML2		ENST00000316193.8:c.457-61G>A	17.37:g.61972640C>T						CSH1_ENST00000316193.8_Intron|CSH1_ENST00000453363.3_Intron	p.E217K			P01243	CSH_HUMAN			4	719	-			0					P01243|Q0VDB1|Q14407	Missense_Mutation	SNP	ENST00000316193.8	37	c.649G>A	CCDS11649.1	.	.	.	.	.	.	.	.	.	.	c	14.32	2.500933	0.44455	.	.	ENSG00000136488	ENST00000329882	D	0.88277	-2.36	2.07	1.04	0.20106	.	2.209010	0.02155	N	0.058330	D	0.82797	0.5115	.	.	.	0.09310	N	1	B	0.25486	0.127	B	0.13407	0.009	T	0.68674	-0.5346	9	0.87932	D	0	.	4.489	0.11805	0.0:0.7894:0.0:0.2106	.	217	A6NFB4	.	K	217	ENSP00000333268:E217K	ENSP00000333268:E217K	E	-	1	0	CSH1	59326372	0.002000	0.14202	0.000000	0.03702	0.033000	0.12548	0.705000	0.25675	0.184000	0.20083	0.313000	0.20887	GAG		0.557	CSH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416040.1	NM_001317		47	57	0	0	0	0.048971	0	47	57				
OPALIN	93377	broad.mit.edu	37	10	98113209	98113209	+	Intron	SNP	G	G	A			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr10:98113209G>A	ENST00000371172.3	-	2	445				OPALIN_ENST00000393870.2_Intron|OPALIN_ENST00000393871.1_Intron|OPALIN_ENST00000536387.1_Missense_Mutation_p.R2W|OPALIN_ENST00000419479.1_Missense_Mutation_p.R2W	NM_001284326.1|NM_001284327.1|NM_033207.3	NP_001271255.1|NP_001271256.1|NP_149984.1	Q96PE5	OPALI_HUMAN	oligodendrocytic myelin paranodal and inner loop protein							Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R2W(1)		breast(1)|large_intestine(1)|lung(5)|prostate(2)	9						cctaccatccgcattgtccag	0.522																																						ENST00000419479.1																			1	Substitution - Missense(1)	p.R2W(1)	kidney(1)	breast(1)|large_intestine(1)|lung(5)|prostate(2)	9						c.(4-6)Cgg>Tgg		oligodendrocytic myelin paranodal and inner loop protein							149.0	145.0	147.0					10																	98113209		1979	4154	6133	SO:0001627	intron_variant	93377					Golgi apparatus|integral to membrane|plasma membrane		g.chr10:98113209G>A	AF367761	CCDS7448.1, CCDS41556.1, CCDS44466.1, CCDS60602.1, CCDS73172.1, CCDS73173.1	10q23-q24	2010-11-23	2008-05-01	2008-05-01	ENSG00000197430	ENSG00000197430			20707	protein-coding gene	gene with protein product			"""transmembrane protein 10"""	TMEM10		11814680, 17442045	Standard	NM_001284324		Approved	TMP10, HTMP10	uc001kmj.3	Q96PE5	OTTHUMG00000018831	ENST00000371172.3:c.39+1802C>T	10.37:g.98113209G>A						OPALIN_ENST00000371172.3_Intron|OPALIN_ENST00000536387.1_Missense_Mutation_p.R2W|OPALIN_ENST00000393871.1_Intron|OPALIN_ENST00000393870.2_Intron	p.R2W	NM_001040103.1	NP_001035192.1	Q96PE5	OPALI_HUMAN			3	511	-			0					A8MX69|A8MYG4|B4DK96|B4DKH0|Q5W102	Missense_Mutation	SNP	ENST00000371172.3	37	c.4C>T	CCDS7448.1	.	.	.	.	.	.	.	.	.	.	g	7.620	0.676695	0.14841	.	.	ENSG00000197430	ENST00000419479;ENST00000536387	.	.	.	2.01	-2.96	0.05547	.	.	.	.	.	T	0.09379	0.0231	.	.	.	0.09310	N	1	P	0.48589	0.912	B	0.24848	0.056	T	0.22312	-1.0220	7	0.87932	D	0	.	0.1224	0.00066	0.2229:0.2042:0.2301:0.3428	.	2	B4DK96	.	W	2	.	ENSP00000398025:R2W	R	-	1	2	OPALIN	98103199	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.720000	0.01871	-0.727000	0.04888	-1.488000	0.00978	CGG		0.522	OPALIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049606.1	NM_033207		4	143	0	0	0	0.014758	0	4	143				
TSHZ2	128553	broad.mit.edu	37	20	51870363	51870363	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr20:51870363G>A	ENST00000371497.5	+	2	1253	c.366G>A	c.(364-366)atG>atA	p.M122I	TSHZ2_ENST00000329613.6_Missense_Mutation_p.M119I|TSHZ2_ENST00000603338.2_Missense_Mutation_p.M119I|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	122					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.M122I(2)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			ACAATTGCATGGATAAAATGA	0.522																																						ENST00000371497.5																			2	Substitution - Missense(2)	p.M122I(2)	prostate(2)	NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(364-366)atG>atA		teashirt zinc finger homeobox 2							82.0	71.0	74.0					20																	51870363		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51870363G>A	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.366G>A	20.37:g.51870363G>A	ENSP00000360552:p.Met122Ile					TSHZ2_ENST00000329613.6_Missense_Mutation_p.M119I|TSHZ2_ENST00000603338.2_Missense_Mutation_p.M119I	p.M122I	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	1253	+			122					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.366G>A	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709961	0.48517	.	.	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.13307	2.6;2.6	5.7	5.7	0.88788	.	0.042170	0.85682	D	0.000000	T	0.16342	0.0393	L	0.51422	1.61	0.58432	D	0.999994	P	0.35844	0.524	B	0.28849	0.095	T	0.01557	-1.1325	10	0.66056	D	0.02	-24.213	19.8272	0.96622	0.0:0.0:1.0:0.0	.	122	Q9NRE2	TSH2_HUMAN	I	122;119	ENSP00000360552:M122I;ENSP00000333114:M119I	ENSP00000333114:M119I	M	+	3	0	TSHZ2	51303770	1.000000	0.71417	1.000000	0.80357	0.641000	0.38312	5.328000	0.65887	2.685000	0.91497	0.643000	0.83706	ATG		0.522	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		24	32	0	0	0	0.069288	0	24	32				
TPH1	7166	broad.mit.edu	37	11	18062244	18062244	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr11:18062244A>C	ENST00000250018.2	-	1	628	c.66T>G	c.(64-66)ttT>ttG	p.F22L	TPH1_ENST00000341556.2_Missense_Mutation_p.F22L	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	22	ACT. {ECO:0000255|PROSITE- ProRule:PRU01007}.				aromatic amino acid family metabolic process (GO:0009072)|bone remodeling (GO:0046849)|cellular nitrogen compound metabolic process (GO:0034641)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|mammary gland alveolus development (GO:0060749)|negative regulation of ossification (GO:0030279)|response to immobilization stress (GO:0035902)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)	p.F22L(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	TCTTTAAGGAAAAAATGAGAC	0.328																																						ENST00000250018.2																			1	Substitution - Missense(1)	p.F22L(1)	prostate(1)	NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25						c.(64-66)ttT>ttG		tryptophan hydroxylase 1	L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)						55.0	51.0	52.0					11																	18062244		2199	4290	6489	SO:0001583	missense	7166				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr11:18062244A>C	X52836	CCDS7829.1	11p15.3-p14	2012-10-02	2008-07-31	2003-04-04	ENSG00000129167	ENSG00000129167	1.14.16.4		12008	protein-coding gene	gene with protein product	"""tryptophan 5-monooxygenase"""	191060	"""tryptophan hydroxylase (tryptophan 5-monooxygenase)"""	TPRH, TPH		1463016	Standard	NM_004179		Approved		uc001mnp.2	P17752	OTTHUMG00000166421	ENST00000250018.2:c.66T>G	11.37:g.18062244A>C	ENSP00000250018:p.Phe22Leu					TPH1_ENST00000341556.2_Missense_Mutation_p.F22L	p.F22L	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN			1	628	-			22			ACT.		D3DQX6|O95188|O95189|Q16736|Q3KPG8	Missense_Mutation	SNP	ENST00000250018.2	37	c.66T>G	CCDS7829.1	.	.	.	.	.	.	.	.	.	.	A	17.10	3.303318	0.60195	.	.	ENSG00000129167	ENST00000250018;ENST00000341556;ENST00000528338	D;D;D	0.99098	-5.42;-5.42;-5.42	5.28	1.47	0.22746	Amino acid-binding ACT (1);	0.000000	0.85682	D	0.000000	D	0.97636	0.9225	M	0.68593	2.085	0.58432	D	0.999997	P	0.41102	0.738	B	0.42798	0.398	D	0.94967	0.8113	10	0.36615	T	0.2	-19.3977	9.4738	0.38858	0.6406:0.0:0.3594:0.0	.	22	P17752	TPH1_HUMAN	L	22;22;32	ENSP00000250018:F22L;ENSP00000343550:F22L;ENSP00000436081:F32L	ENSP00000250018:F22L	F	-	3	2	TPH1	18018820	1.000000	0.71417	0.999000	0.59377	0.753000	0.42808	1.767000	0.38501	0.301000	0.22738	-0.415000	0.06103	TTT		0.328	TPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389696.1	NM_004179		5	38	0	0	0	0.021553	0	5	38				
IL34	146433	broad.mit.edu	37	16	70693984	70693984	+	Missense_Mutation	SNP	C	C	T	rs201277640		TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr16:70693984C>T	ENST00000288098.2	+	6	1006	c.623C>T	c.(622-624)gCg>gTg	p.A208V	IL34_ENST00000566361.1_Missense_Mutation_p.A183V|FLJ00418_ENST00000597002.1_5'Flank|IL34_ENST00000429149.2_Missense_Mutation_p.A208V	NM_001172772.1	NP_001166243.1	Q6ZMJ4	IL34_HUMAN	interleukin 34	208					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein phosphorylation (GO:0001934)	extracellular space (GO:0005615)	macrophage colony-stimulating factor receptor binding (GO:0005157)	p.A208V(1)		breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						TTGCAGTATGCGGCCACCCAG	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		14065	0.0		0.001	False		,,,				2504	0.0					ENST00000429149.2																			1	Substitution - Missense(1)	p.A208V(1)	urinary_tract(1)	breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						c.(622-624)gCg>gTg		interleukin 34		C	VAL/ALA,VAL/ALA,VAL/ALA	1,4395	2.1+/-5.4	0,1,2197	96.0	105.0	102.0		620,623,623	-3.1	0.0	16		102	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	IL34	NM_001172771.1,NM_001172772.1,NM_152456.2	64,64,64	0,2,6496	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign,benign	207/242,208/243,208/243	70693984	2,12994	2198	4300	6498	SO:0001583	missense	146433				positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding	g.chr16:70693984C>T	BC029804	CCDS10895.1	16q22.1	2008-08-01	2008-06-04	2008-06-04	ENSG00000157368	ENSG00000157368		"""Interleukins and interleukin receptors"""	28529	protein-coding gene	gene with protein product		612081	"""chromosome 16 open reading frame 77"""	C16orf77		18467591	Standard	NM_152456		Approved	MGC34647, IL-34	uc002ezh.2	Q6ZMJ4	OTTHUMG00000137581	ENST00000288098.2:c.623C>T	16.37:g.70693984C>T	ENSP00000288098:p.Ala208Val					IL34_ENST00000566361.1_Missense_Mutation_p.A183V|IL34_ENST00000288098.2_Missense_Mutation_p.A208V	p.A208V	NM_001172771.1|NM_152456.2	NP_001166242.1|NP_689669.2	Q6ZMJ4	IL34_HUMAN			7	1178	+			208					B2RC28|B2Z4A8|B2ZC70|Q8N6L2	Missense_Mutation	SNP	ENST00000288098.2	37	c.623C>T	CCDS10895.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	1.250	-0.618797	0.03663	2.27E-4	1.16E-4	ENSG00000157368	ENST00000429149;ENST00000288098	T;T	0.34667	1.35;1.35	4.69	-3.08	0.05347	.	2.218580	0.03059	N	0.155676	T	0.10294	0.0252	N	0.01352	-0.895	0.09310	N	1	B;B	0.17465	0.022;0.022	B;B	0.08055	0.003;0.003	T	0.24261	-1.0165	10	0.05436	T	0.98	-0.0424	4.1458	0.10215	0.4149:0.3737:0.0:0.2114	.	207;208	Q6ZMJ4-2;Q6ZMJ4	.;IL34_HUMAN	V	208	ENSP00000397863:A208V;ENSP00000288098:A208V	ENSP00000288098:A208V	A	+	2	0	IL34	69251485	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.807000	0.01734	-0.832000	0.04251	-1.552000	0.00895	GCG		0.647	IL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268971.3	NM_152456		4	149	0	0	0	0.009096	0	4	149				
CCDC130	81576	broad.mit.edu	37	19	13875456	13875456	+	IGR	SNP	G	G	T			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr19:13875456G>T	ENST00000586600.1	+	0	1922				MRI1_ENST00000319545.8_Missense_Mutation_p.Q18H|MRI1_ENST00000040663.6_Missense_Mutation_p.Q18H			P13994	CC130_HUMAN	coiled-coil domain containing 130						response to virus (GO:0009615)			p.Q18H(4)		endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			TCCTAGACCAGCTGCTGCTGC	0.706																																						ENST00000319545.8																			4	Substitution - Missense(4)	p.Q18H(4)	prostate(2)|lung(2)	breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						c.(52-54)caG>caT		methylthioribose-1-phosphate isomerase 1							23.0	26.0	25.0					19																	13875456		2189	4284	6473	SO:0001628	intergenic_variant	84245				L-methionine salvage from methylthioadenosine	cell projection|cytoplasm|nucleus	identical protein binding|S-methyl-5-thioribose-1-phosphate isomerase activity	g.chr19:13875456G>T	AF250306	CCDS12296.1	19p13.13	2008-02-05				ENSG00000104957			28118	protein-coding gene	gene with protein product						3203696	Standard	NM_030818		Approved	MGC10471	uc002mxc.1	P13994			19.37:g.13875456G>T						MRI1_ENST00000040663.6_Missense_Mutation_p.Q18H	p.Q18H	NM_032285.2	NP_115661.1	Q9BV20	MTNA_HUMAN			1	111	+			18					Q9BQ72	Missense_Mutation	SNP	ENST00000586600.1	37	c.54G>T	CCDS12296.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582330	0.65992	.	.	ENSG00000037757	ENST00000040663;ENST00000319545	T;T	0.37584	1.19;1.19	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.69637	0.3133	H	0.96633	3.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.77397	-0.2603	10	0.87932	D	0	-22.7382	9.3849	0.38336	0.0944:0.0:0.9056:0.0	.	18;18	Q9BV20-2;Q9BV20	.;MTNA_HUMAN	H	18	ENSP00000040663:Q18H;ENSP00000314871:Q18H	ENSP00000040663:Q18H	Q	+	3	2	MRI1	13736456	1.000000	0.71417	1.000000	0.80357	0.098000	0.18820	4.030000	0.57260	2.651000	0.90000	0.655000	0.94253	CAG		0.706	CCDC130-001	KNOWN	alternative_5_UTR|upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453216.2	NM_030818		6	52	1	0	0.00198382	0.029380	0.00232006	6	52				
ADAMTS15	170689	broad.mit.edu	37	11	130343148	130343148	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr11:130343148C>T	ENST00000299164.2	+	8	2285	c.2285C>T	c.(2284-2286)aCg>aTg	p.T762M		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	762	Spacer.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.T762M(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		TACAGCGGCACGGGCACAGCG	0.672																																						ENST00000299164.2																			1	Substitution - Missense(1)	p.T762M(1)	prostate(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36						c.(2284-2286)aCg>aTg		ADAM metallopeptidase with thrombospondin type 1 motif, 15							65.0	60.0	62.0					11																	130343148		2201	4297	6498	SO:0001583	missense	170689				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:130343148C>T	AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	16305	protein-coding gene	gene with protein product		607509	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"""			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.2285C>T	11.37:g.130343148C>T	ENSP00000299164:p.Thr762Met						p.T762M	NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	8	2285	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	762			Spacer.		Q32MI6	Missense_Mutation	SNP	ENST00000299164.2	37	c.2285C>T	CCDS8488.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.499082	0.85069	.	.	ENSG00000166106	ENST00000299164	T	0.52295	0.67	5.91	4.97	0.65823	ADAM-TS Spacer 1 (1);	.	.	.	.	T	0.70351	0.3214	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	T	0.75508	-0.3293	9	0.62326	D	0.03	.	16.8808	0.86062	0.0:0.8717:0.1283:0.0	.	762	Q8TE58	ATS15_HUMAN	M	762	ENSP00000299164:T762M	ENSP00000299164:T762M	T	+	2	0	ADAMTS15	129848358	1.000000	0.71417	0.893000	0.35052	0.980000	0.70556	5.737000	0.68606	1.455000	0.47813	0.655000	0.94253	ACG		0.672	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055		4	90	0	0	0	0.009096	0	4	90				
HNRNPL	3191	broad.mit.edu	37	19	39334540	39334540	+	Silent	SNP	A	A	G			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr19:39334540A>G	ENST00000221419.5	-	6	1188	c.822T>C	c.(820-822)aaT>aaC	p.N274N	HNRNPL_ENST00000600873.1_Silent_p.N141N|AC008982.2_ENST00000600473.1_RNA	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	274					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)	p.N274N(1)|p.N141N(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			TCTTGAACACATTCAAGCGTG	0.507																																						ENST00000221419.5																			2	Substitution - coding silent(2)	p.N274N(1)|p.N141N(1)	prostate(2)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						c.(820-822)aaT>aaC		heterogeneous nuclear ribonucleoprotein L							161.0	135.0	144.0					19																	39334540		2203	4300	6503	SO:0001819	synonymous_variant	3191				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding	g.chr19:39334540A>G	X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"""RNA binding motif (RRM) containing"""	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.822T>C	19.37:g.39334540A>G						HNRNPL_ENST00000600873.1_Silent_p.N141N	p.N274N	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)		6	1188	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		274					A6ND69|A6NIT8|Q9H3P3	Silent	SNP	ENST00000221419.5	37	c.822T>C	CCDS33015.1																																																																																				0.507	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462670.1			31	60	0	0	0	0.045705	0	31	60				
BZRAP1	9256	broad.mit.edu	37	17	56385061	56385061	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr17:56385061C>A	ENST00000343736.4	-	24	5057	c.4894G>T	c.(4894-4896)Gct>Tct	p.A1632S	BZRAP1_ENST00000355701.3_Missense_Mutation_p.A1632S|BZRAP1_ENST00000268893.6_Missense_Mutation_p.A1572S			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1632	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)	p.A1632S(3)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCAAACAGAGCCACAAAGATC	0.567																																						ENST00000355701.3																			3	Substitution - Missense(3)	p.A1632S(3)	prostate(3)	cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(4894-4896)Gct>Tct		benzodiazapine receptor (peripheral) associated protein 1							137.0	107.0	117.0					17																	56385061		2203	4300	6503	SO:0001583	missense	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56385061C>A	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.4894G>T	17.37:g.56385061C>A	ENSP00000345824:p.Ala1632Ser					BZRAP1_ENST00000268893.6_Missense_Mutation_p.A1572S|BZRAP1_ENST00000343736.4_Missense_Mutation_p.A1632S	p.A1632S	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN			24	5764	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1632			SH3 2.		O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	c.4894G>T	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	C	35	5.453169	0.96223	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.55588	0.51;0.51;0.51	5.79	5.79	0.91817	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.85682	D	0.000000	T	0.79753	0.4500	M	0.91196	3.185	0.58432	D	0.999991	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.997;0.997	D	0.83427	0.0036	10	0.72032	D	0.01	.	19.0299	0.92952	0.0:1.0:0.0:0.0	.	1632;1572;1632	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	S	1632;1632;1572	ENSP00000347929:A1632S;ENSP00000345824:A1632S;ENSP00000268893:A1572S	ENSP00000268893:A1572S	A	-	1	0	BZRAP1	53740060	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.296000	0.78790	2.736000	0.93811	0.655000	0.94253	GCT		0.567	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		7	64	1	0	1.06961e-07	0.038147	1.29479e-07	7	64				
UHRF1	29128	broad.mit.edu	37	19	4950688	4950688	+	RNA	SNP	G	G	A	rs377699288		TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr19:4950688G>A	ENST00000592666.1	+	0	2159							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R541Q(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		AAGGACTGGCGGTCGGGGAAG	0.607																																						ENST00000592666.1																			2	Substitution - Missense(2)	p.R541Q(2)	prostate(2)	breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16								ubiquitin-like with PHD and ring finger domains 1		G	GLN/ARG,GLN/ARG	0,3872		0,0,1936	20.0	25.0	24.0		1583,1622	4.8	0.9	19		24	1,8195		0,1,4097	no	missense,missense	UHRF1	NM_001048201.1,NM_013282.3	43,43	0,1,6033	AA,AG,GG		0.0122,0.0,0.0083	probably-damaging,probably-damaging	528/794,541/807	4950688	1,12067	1936	4098	6034			29128				cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:4950688G>A	AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"""RING-type (C3HC4) zinc fingers"""	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4950688G>A										Q96T88	UHRF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)	0	2159	+								A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	RNA	SNP	ENST00000592666.1	37			.	.	.	.	.	.	.	.	.	.	G	20.6	4.025035	0.75390	0.0	1.22E-4	ENSG00000034063	ENST00000262952;ENST00000396708;ENST00000455180;ENST00000543616;ENST00000398240	.	.	.	4.84	4.84	0.62591	SRA-YDG (4);	0.056632	0.64402	D	0.000002	T	0.75133	0.3808	L	0.49640	1.575	0.43000	D	0.994518	D;D	0.89917	1.0;0.987	D;P	0.85130	0.997;0.524	T	0.76170	-0.3057	8	0.49607	T	0.09	-27.198	17.9546	0.89064	0.0:0.0:1.0:0.0	.	541;528	Q2HIX7;Q96T88	.;UHRF1_HUMAN	Q	528;143;528;528;541	.	ENSP00000262952:R528Q	R	+	2	0	UHRF1	4901688	1.000000	0.71417	0.886000	0.34754	0.920000	0.55202	5.265000	0.65519	2.248000	0.74166	0.555000	0.69702	CGG		0.607	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000450444.1	NM_001048201		22	30	0	0	0	0.062417	0	22	30				
PSG2	5670	broad.mit.edu	37	19	43585093	43585093	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr19:43585093T>C	ENST00000406487.1	-	2	468	c.370A>G	c.(370-372)Atc>Gtc	p.I124V	PSG2_ENST00000491995.1_5'Flank	NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	124	Ig-like V-type.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.I124V(2)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				CGCTTTATGATGTGTAAGGTG	0.493																																						ENST00000406487.1																			2	Substitution - Missense(2)	p.I124V(2)	prostate(2)	central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49						c.(370-372)Atc>Gtc		pregnancy specific beta-1-glycoprotein 2							113.0	113.0	113.0					19																	43585093		2200	4279	6479	SO:0001583	missense	5670				cell migration|female pregnancy	extracellular region		g.chr19:43585093T>C		CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9519	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta-1-glycoprotein 7"", ""carcinoembryonic antigen SG8"""	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.370A>G	19.37:g.43585093T>C	ENSP00000385706:p.Ile124Val						p.I124V	NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN			2	468	-		Prostate(69;0.00682)	124			Ig-like V-type.		Q8TCD9|Q9UEA4|Q9UQ78	Missense_Mutation	SNP	ENST00000406487.1	37	c.370A>G	CCDS12616.1	.	.	.	.	.	.	.	.	.	.	N	0.043	-1.278132	0.01410	.	.	ENSG00000242221	ENST00000406487;ENST00000329509;ENST00000401942;ENST00000406917	T	0.62788	0.0	0.569	-0.842	0.10748	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.47930	0.1472	L	0.35249	1.045	0.09310	N	1	B;P	0.35107	0.173;0.484	B;B	0.42916	0.177;0.402	T	0.40869	-0.9540	8	0.10111	T	0.7	.	.	.	.	.	124;124	B5MCM8;P11465	.;PSG2_HUMAN	V	124	ENSP00000385706:I124V	ENSP00000332984:I124V	I	-	1	0	PSG2	48276933	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.437000	0.02419	-0.424000	0.07382	0.155000	0.16302	ATC		0.493	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246		16	160	0	0	0	0.030593	0	16	160				
MOCS1	4337	broad.mit.edu	37	6	39880665	39880665	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr6:39880665C>A	ENST00000340692.5	-	7	844	c.841G>T	c.(841-843)Gtg>Ttg	p.V281L	MOCS1_ENST00000373188.2_Missense_Mutation_p.V281L|MOCS1_ENST00000308559.7_Missense_Mutation_p.V281L|MOCS1_ENST00000373175.4_Missense_Mutation_p.V252L|MOCS1_ENST00000373186.4_Missense_Mutation_p.V281L|MOCS1_ENST00000425303.2_Missense_Mutation_p.V281L|MOCS1_ENST00000432280.2_Missense_Mutation_p.V252L|MOCS1_ENST00000373195.3_Missense_Mutation_p.V194L			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	281	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.V281L(2)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					TCCTCTGGCACCTTCTCCAGC	0.577																																					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)	ENST00000373186.4																			2	Substitution - Missense(2)	p.V281L(2)	prostate(2)	central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21						c.(841-843)Gtg>Ttg		molybdenum cofactor synthesis 1							258.0	241.0	247.0					6																	39880665		2203	4300	6503	SO:0001583	missense	4337				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding	g.chr6:39880665C>A	AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.841G>T	6.37:g.39880665C>A	ENSP00000344794:p.Val281Leu					MOCS1_ENST00000340692.5_Missense_Mutation_p.V281L|MOCS1_ENST00000373188.2_Missense_Mutation_p.V281L|MOCS1_ENST00000425303.2_Missense_Mutation_p.V281L|MOCS1_ENST00000308559.7_Missense_Mutation_p.V281L|MOCS1_ENST00000373175.4_Missense_Mutation_p.V252L|MOCS1_ENST00000373195.3_Missense_Mutation_p.V194L|MOCS1_ENST00000432280.2_Missense_Mutation_p.V252L	p.V281L	NM_005943.5	NP_005934.2	Q9NZB8	MOCS1_HUMAN			6	978	-	Ovarian(28;0.0355)|Colorectal(47;0.196)		281			Molybdenum cofactor biosynthesis protein A.		B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Missense_Mutation	SNP	ENST00000340692.5	37	c.841G>T		.	.	.	.	.	.	.	.	.	.	C	6.225	0.409715	0.11812	.	.	ENSG00000124615	ENST00000373186;ENST00000308559;ENST00000373175;ENST00000373188;ENST00000373195;ENST00000341481;ENST00000340692;ENST00000425303;ENST00000432280	D;D;D;D;D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31;-2.31;-2.31;-2.31;-2.31	5.05	3.24	0.37175	Molybdenum cofactor synthesis C-terminal (1);	0.158513	0.42294	N	0.000737	T	0.52273	0.1724	N	0.05608	-0.01	0.25184	N	0.990184	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.001;0.001;0.002;0.0;0.001	T	0.44174	-0.9345	9	.	.	.	-4.4337	9.8404	0.40996	0.0742:0.2664:0.6594:0.0	.	281;281;281;281;281	Q9NZB8-2;Q9NZB8-5;Q9NZB8;Q9NZB8-8;Q9NZB8-6	.;.;MOCS1_HUMAN;.;.	L	281;281;252;281;194;33;281;281;252	ENSP00000362282:V281L;ENSP00000309843:V281L;ENSP00000362270:V252L;ENSP00000362284:V281L;ENSP00000362291:V194L;ENSP00000344794:V281L;ENSP00000416478:V281L;ENSP00000410809:V252L	.	V	-	1	0	MOCS1	39988643	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.333000	0.59285	0.515000	0.28320	-0.128000	0.14901	GTG		0.577	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000040476.2	NM_005943		136	185	1	0	3.42316e-88	0.048971	4.29451e-88	136	185				
LHFP	10186	broad.mit.edu	37	13	40175053	40175053	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr13:40175053G>A	ENST00000379589.3	-	2	763	c.301C>T	c.(301-303)Ctc>Ttc	p.L101F	LHFP_ENST00000495922.1_5'Flank	NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner	101						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)	p.L101F(1)	HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		AGGGCAGTGAGCGCCACCAGG	0.587			T	HMGA2	lipoma																																	ENST00000379589.3				Dom	yes		13	13q12	10186	T	lipoma HMGIC fusion partner			M	HMGA2		lipoma	HMGA2/LHFP(2)	1	Substitution - Missense(1)	p.L101F(1)	prostate(1)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13						c.(301-303)Ctc>Ttc		lipoma HMGIC fusion partner							132.0	129.0	130.0					13																	40175053		2203	4300	6503	SO:0001583	missense	10186					integral to membrane	DNA binding	g.chr13:40175053G>A	AF098807	CCDS9369.1	13q12	2008-07-18			ENSG00000183722	ENSG00000183722			6586	protein-coding gene	gene with protein product		606710				10329012	Standard	NM_005780		Approved	MGC22429	uc001uxf.3	Q9Y693	OTTHUMG00000016767	ENST00000379589.3:c.301C>T	13.37:g.40175053G>A	ENSP00000368908:p.Leu101Phe						p.L101F	NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)	2	763	-		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)	101					B2R7M2|Q53FC0|Q96SH5	Missense_Mutation	SNP	ENST00000379589.3	37	c.301C>T	CCDS9369.1	.	.	.	.	.	.	.	.	.	.	G	11.13	1.547714	0.27652	.	.	ENSG00000183722	ENST00000379589	T	0.73469	-0.75	5.38	4.53	0.55603	.	0.206642	0.31601	N	0.007375	T	0.68705	0.3030	L	0.45470	1.425	0.54753	D	0.999987	B	0.26363	0.147	B	0.33690	0.168	T	0.63844	-0.6545	9	.	.	.	.	12.5831	0.56401	0.0802:0.0:0.9198:0.0	.	101	Q9Y693	LHFP_HUMAN	F	101	ENSP00000368908:L101F	.	L	-	1	0	LHFP	39073053	1.000000	0.71417	0.758000	0.31321	0.054000	0.15201	6.355000	0.73041	2.522000	0.85027	0.655000	0.94253	CTC		0.587	LHFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044619.1	NM_005780		12	136	0	0	0	0.093190	0	12	136				
YTHDC2	64848	broad.mit.edu	37	5	112876726	112876726	+	Silent	SNP	T	T	C			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr5:112876726T>C	ENST00000161863.4	+	9	1485	c.1272T>C	c.(1270-1272)ccT>ccC	p.P424P	YTHDC2_ENST00000515883.1_Silent_p.P424P	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	424					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)	p.P424P(1)		NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		GTTTCAAGCCTGAATCTCAGA	0.383																																						ENST00000161863.4																			1	Substitution - coding silent(1)	p.P424P(1)	prostate(1)	NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1270-1272)ccT>ccC		YTH domain containing 2							164.0	152.0	156.0					5																	112876726		2202	4300	6502	SO:0001819	synonymous_variant	64848						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:112876726T>C	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.1272T>C	5.37:g.112876726T>C						YTHDC2_ENST00000515883.1_Silent_p.P424P	p.P424P	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)	9	1485	+		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)	424					B2RP66	Silent	SNP	ENST00000161863.4	37	c.1272T>C	CCDS4113.1																																																																																				0.383	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		3	68	0	0	0	0.004672	0	3	68				
MYLIP	29116	broad.mit.edu	37	6	16145318	16145318	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr6:16145318T>C	ENST00000356840.3	+	6	1216	c.1018T>C	c.(1018-1020)Tca>Cca	p.S340P	MYLIP_ENST00000349606.4_Missense_Mutation_p.S159P	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	340					cellular component movement (GO:0006928)|cholesterol homeostasis (GO:0042632)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|nervous system development (GO:0007399)|positive regulation of protein catabolic process (GO:0045732)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	cytoskeletal protein binding (GO:0008092)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S340P(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			GGACCTCGTTTCAAGAAACAA	0.517																																						ENST00000349606.4																			1	Substitution - Missense(1)	p.S340P(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(475-477)Tca>Cca		myosin regulatory light chain interacting protein							103.0	107.0	106.0					6																	16145318		2203	4300	6503	SO:0001583	missense	29116				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:16145318T>C	AF187016	CCDS4536.1	6p23-p22.3	2011-11-17			ENSG00000007944	ENSG00000007944			21155	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor"""	610082				10593918, 11162443, 19688294	Standard	NM_013262		Approved	MIR, IDOL	uc003nbq.3	Q8WY64	OTTHUMG00000016405	ENST00000356840.3:c.1018T>C	6.37:g.16145318T>C	ENSP00000349298:p.Ser340Pro					MYLIP_ENST00000356840.3_Missense_Mutation_p.S340P	p.S159P			Q8WY64	MYLIP_HUMAN	Epithelial(50;0.241)		5	979	+	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	340			FERM.		Q5TIA4|Q9BU73|Q9NRL9|Q9UHE7	Missense_Mutation	SNP	ENST00000356840.3	37	c.475T>C	CCDS4536.1	.	.	.	.	.	.	.	.	.	.	T	10.95	1.495719	0.26774	.	.	ENSG00000007944	ENST00000356840;ENST00000349606	D;T	0.81996	-1.56;1.12	5.65	2.04	0.26737	.	0.150898	0.64402	N	0.000008	T	0.42539	0.1207	N	0.02539	-0.55	0.58432	D	0.99999	B	0.06786	0.001	B	0.08055	0.003	T	0.35101	-0.9802	10	0.46703	T	0.11	.	8.7115	0.34387	0.0:0.2222:0.0:0.7778	.	340	Q8WY64	MYLIP_HUMAN	P	340;159	ENSP00000349298:S340P;ENSP00000008686:S159P	ENSP00000008686:S159P	S	+	1	0	MYLIP	16253297	0.810000	0.29049	0.010000	0.14722	0.543000	0.35085	1.232000	0.32636	0.520000	0.28426	0.533000	0.62120	TCA		0.517	MYLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043864.1	NM_013262		10	123	0	0	0	0.069234	0	10	123				
ARHGAP21	57584	broad.mit.edu	37	10	24884077	24884077	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr10:24884077G>C	ENST00000396432.2	-	20	4241	c.3755C>G	c.(3754-3756)cCt>cGt	p.P1252R	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.P1039R|ARHGAP21_ENST00000493154.1_5'Flank	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1251	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)	p.P1251R(1)|p.P1251fs*2(1)|p.P1252R(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						ACGATCTAGAGGATCTTCTTT	0.299																																						ENST00000396432.2																			3	Substitution - Missense(2)|Deletion - Frameshift(1)	p.P1251R(1)|p.P1251fs*2(1)|p.P1252R(1)	prostate(2)|pancreas(1)	NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(3754-3756)cCt>cGt		Rho GTPase activating protein 21							43.0	45.0	44.0					10																	24884077		2201	4296	6497	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24884077G>C	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.3755C>G	10.37:g.24884077G>C	ENSP00000379709:p.Pro1252Arg					ARHGAP21_ENST00000320481.6_Missense_Mutation_p.P1039R	p.P1252R	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN			20	4241	-			1251			Rho-GAP.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.3755C>G	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	G	18.26	3.584864	0.65992	.	.	ENSG00000107863	ENST00000396432;ENST00000447364;ENST00000320481;ENST00000418325	T;T;T	0.18338	2.22;2.22;2.22	5.52	5.52	0.82312	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.049408	0.85682	D	0.000000	T	0.28928	0.0718	N	0.20845	0.615	0.80722	D	1	P	0.52463	0.953	D	0.64144	0.922	T	0.04017	-1.0984	10	0.62326	D	0.03	.	19.7999	0.96502	0.0:0.0:1.0:0.0	.	1251	Q5T5U3	RHG21_HUMAN	R	1252;701;1039;93	ENSP00000379709:P1252R;ENSP00000365604:P1039R;ENSP00000402761:P93R	ENSP00000365604:P1039R	P	-	2	0	ARHGAP21	24924083	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.421000	0.73353	2.751000	0.94390	0.650000	0.86243	CCT		0.299	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		4	25	0	0	0	0.014758	0	4	25				
PFDN5	5204	broad.mit.edu	37	12	53689395	53689395	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr12:53689395T>C	ENST00000551018.1	+	1	321	c.44T>C	c.(43-45)cTa>cCa	p.L15P	PFDN5_ENST00000550846.1_Missense_Mutation_p.L15P|PFDN5_ENST00000351500.3_Missense_Mutation_p.L15P|PFDN5_ENST00000334478.4_Missense_Mutation_p.L15P	NM_002624.3	NP_002615.2	Q99471	PFD5_HUMAN	prefoldin subunit 5	15					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|protein folding (GO:0006457)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	transcription corepressor activity (GO:0003714)	p.L15P(1)		kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)	8						CTGCCGCAGCTAGAAATGCTC	0.592																																						ENST00000551018.1																			1	Substitution - Missense(1)	p.L15P(1)	prostate(1)	kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)	8						c.(43-45)cTa>cCa		prefoldin subunit 5							103.0	101.0	101.0					12																	53689395		2203	4300	6503	SO:0001583	missense	5204				'de novo' posttranslational protein folding|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent	nucleus|prefoldin complex	transcription corepressor activity|unfolded protein binding	g.chr12:53689395T>C	D89667	CCDS8853.1, CCDS8854.1	12q13.13	2008-05-14	2006-02-24						8869	protein-coding gene	gene with protein product		604899	"""prefoldin 5"""			9630229, 9792694	Standard	NM_002624		Approved	PFD5, MM-1	uc001scl.3	Q99471	OTTHUMG00000169675	ENST00000551018.1:c.44T>C	12.37:g.53689395T>C	ENSP00000447942:p.Leu15Pro					PFDN5_ENST00000550846.1_Missense_Mutation_p.L15P|PFDN5_ENST00000334478.4_Missense_Mutation_p.L15P|PFDN5_ENST00000351500.3_Missense_Mutation_p.L15P	p.L15P	NM_002624.3	NP_002615.2	Q99471	PFD5_HUMAN			1	321	+			15					A8K9A8|Q54AA8|Q9C083|Q9C084	Missense_Mutation	SNP	ENST00000551018.1	37	c.44T>C	CCDS8853.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.670440	0.88348	.	.	ENSG00000123349	ENST00000551018;ENST00000351500;ENST00000334478	D;T;D	0.83419	-1.72;-1.48;-1.72	5.73	5.73	0.89815	Prefoldin (1);	0.000000	0.64402	D	0.000001	D	0.85885	0.5801	M	0.92923	3.36	0.80722	D	1	B;P	0.43938	0.051;0.822	B;B	0.36464	0.048;0.225	D	0.88764	0.3259	10	0.59425	D	0.04	.	14.2815	0.66216	0.0:0.0:0.0:1.0	.	15;15	Q9C083;Q99471	.;PFD5_HUMAN	P	15	ENSP00000447942:L15P;ENSP00000266964:L15P;ENSP00000334188:L15P	ENSP00000243040:L15P	L	+	2	0	PFDN5	51975662	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.030000	0.70903	2.324000	0.78689	0.533000	0.62120	CTA		0.592	PFDN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405368.2			3	93	0	0	0	0.004672	0	3	93				
POM121C	100101267	broad.mit.edu	37	7	75044432	75044432	+	IGR	SNP	G	G	A	rs200743976	byFrequency	TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr7:75044432G>A	ENST00000257665.5	-	0	5700				NSUN5P1_ENST00000393633.2_RNA			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C						mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CTGGACCCCCGCCAGGCTCCC	0.637													.|||	9	0.00179712	0.0	0.0014	5008	,	,		14649	0.0		0.007	False		,,,				2504	0.001					ENST00000393633.2																			0				large_intestine(1)|lung(1)	2																																												SO:0001628	intergenic_variant	0							g.chr7:75044432G>A		CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"""POM121 membrane glycoprotein C"""			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238		7.37:g.75044432G>A														0	3600	+								O75115|Q9Y2N3|Q9Y4S7	RNA	SNP	ENST00000257665.5	37																																																																																						0.637	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	NM_001099415		15	17	0	0	0	0.033300	0	15	17				
XIRP2	129446	broad.mit.edu	37	2	167992447	167992447	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr2:167992447C>T	ENST00000409728.1	+	3	526	c.437C>T	c.(436-438)tCg>tTg	p.S146L	XIRP2-AS1_ENST00000525330.1_RNA|XIRP2_ENST00000409195.1_Missense_Mutation_p.S146L|XIRP2_ENST00000295237.9_Missense_Mutation_p.S146L|XIRP2_ENST00000409756.2_Missense_Mutation_p.S146L|XIRP2_ENST00000409043.1_Missense_Mutation_p.S146L|XIRP2_ENST00000420519.1_Missense_Mutation_p.S146L	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.S146L(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGTTTGTGCTCGCCAGCTTTT	0.423																																						ENST00000409195.1																			2	Substitution - Missense(2)	p.S146L(2)	prostate(2)	NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(436-438)tCg>tTg		xin actin-binding repeat containing 2							76.0	78.0	77.0					2																	167992447		1865	4107	5972	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:167992447C>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.437C>T	2.37:g.167992447C>T	ENSP00000386619:p.Ser146Leu					XIRP2_ENST00000409728.1_Missense_Mutation_p.S146L|XIRP2_ENST00000295237.9_Missense_Mutation_p.S146L|XIRP2_ENST00000409756.2_Missense_Mutation_p.S146L|XIRP2_ENST00000420519.1_Missense_Mutation_p.S146L|XIRP2_ENST00000409043.1_Missense_Mutation_p.S146L|XIRP2-AS1_ENST00000525330.1_RNA	p.S146L	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			3	526	+			0					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409728.1	37	c.437C>T	CCDS56143.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.742350	0.49151	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237	T;D;T;T;D;T	0.84370	-1.49;-1.84;3.87;-1.49;-1.84;3.87	5.51	5.51	0.81932	.	.	.	.	.	D	0.92629	0.7658	.	.	.	0.34668	D	0.723459	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	D	0.95644	0.8701	8	0.87932	D	0	-0.2894	17.6029	0.88030	0.0:1.0:0.0:0.0	.	146;146	A4UGR9-4;A4UGR9-6	.;.	L	146	ENSP00000386454:S146L;ENSP00000386619:S146L;ENSP00000386840:S146L;ENSP00000386724:S146L;ENSP00000415541:S146L;ENSP00000295237:S146L	ENSP00000295237:S146L	S	+	2	0	XIRP2	167700693	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	4.938000	0.63519	2.597000	0.87782	0.591000	0.81541	TCG		0.423	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		28	45	0	0	0	0.030593	0	28	45				
ZNF621	285268	broad.mit.edu	37	3	40573524	40573524	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr3:40573524G>A	ENST00000339296.5	+	5	715	c.263G>A	c.(262-264)gGt>gAt	p.G88D	ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000310898.1_Missense_Mutation_p.G88D|ZNF621_ENST00000403205.2_Missense_Mutation_p.G88D|ZNF621_ENST00000431278.1_5'UTR	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	88					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)	p.G88D(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		TGGTCAGGTGGTGAGTCCTGG	0.403																																						ENST00000339296.5																			1	Substitution - Missense(1)	p.G88D(1)	prostate(1)	endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21						c.(262-264)gGt>gAt		zinc finger protein 621							65.0	72.0	69.0					3																	40573524		2203	4300	6503	SO:0001583	missense	285268				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:40573524G>A	AK127181	CCDS2693.1, CCDS74920.1	3p21.33	2013-01-08			ENSG00000172888	ENSG00000172888		"""Zinc fingers, C2H2-type"", ""-"""	24787	protein-coding gene	gene with protein product							Standard	XM_005265079		Approved	FLJ45246	uc003ckm.2	Q6ZSS3	OTTHUMG00000131389	ENST00000339296.5:c.263G>A	3.37:g.40573524G>A	ENSP00000340841:p.Gly88Asp					ZNF621_ENST00000310898.1_Missense_Mutation_p.G88D|ZNF621_ENST00000403205.2_Missense_Mutation_p.G88D|ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000431278.1_5'UTR	p.G88D	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)	5	715	+			88					Q14DC7|Q8TE91	Missense_Mutation	SNP	ENST00000339296.5	37	c.263G>A	CCDS2693.1	.	.	.	.	.	.	.	.	.	.	g	8.240	0.806684	0.16467	.	.	ENSG00000172888	ENST00000403205;ENST00000310898;ENST00000339296;ENST00000453351	T;T;T;T	0.06142	3.34;5.4;3.34;5.44	4.17	-8.19	0.01049	.	1.147880	0.06722	N	0.775018	T	0.04407	0.0121	L	0.31845	0.965	0.09310	N	1	B;B	0.13145	0.007;0.0	B;B	0.12156	0.007;0.001	T	0.39522	-0.9610	10	0.33940	T	0.23	.	7.5378	0.27721	0.1534:0.6004:0.1435:0.1028	.	88;88	C9JM43;Q6ZSS3	.;ZN621_HUMAN	D	88	ENSP00000386051:G88D;ENSP00000312144:G88D;ENSP00000340841:G88D;ENSP00000408779:G88D	ENSP00000312144:G88D	G	+	2	0	ZNF621	40548528	0.002000	0.14202	0.000000	0.03702	0.103000	0.19146	-0.055000	0.11807	-1.884000	0.01119	-0.150000	0.13652	GGT		0.403	ZNF621-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254178.2	NM_198484		13	81	0	0	0	0.105934	0	13	81				
MED1	5469	broad.mit.edu	37	17	37566711	37566711	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr17:37566711G>A	ENST00000300651.6	-	17	1986	c.1763C>T	c.(1762-1764)tCg>tTg	p.S588L	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)	p.S588L(1)		NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		ATGGCCCACCGACTCATGCCG	0.512										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	ENST00000300651.6																			1	Substitution - Missense(1)	p.S588L(1)	prostate(1)	NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59						c.(1762-1764)tCg>tTg		mediator complex subunit 1							160.0	145.0	150.0					17																	37566711		2203	4300	6503	SO:0001583	missense	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37566711G>A	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.1763C>T	17.37:g.37566711G>A	ENSP00000300651:p.Ser588Leu	HNSCC(31;0.082)				MED1_ENST00000394287.3_Intron	p.S588L	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	17	1986	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	588			Interaction with ESR1.|Interaction with THRA.|Interaction with VDR.|Interaction with the Mediator complex and THRA.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000300651.6	37	c.1763C>T	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.160367	0.57368	.	.	ENSG00000125686	ENST00000300651	T	0.54279	0.58	5.8	5.8	0.92144	.	.	.	.	.	T	0.38746	0.1052	N	0.19112	0.55	0.49213	D	0.999769	P	0.39665	0.682	B	0.28991	0.097	T	0.43114	-0.9411	9	0.66056	D	0.02	-3.3316	20.0505	0.97625	0.0:0.0:1.0:0.0	.	588	Q15648	MED1_HUMAN	L	588	ENSP00000300651:S588L	ENSP00000300651:S588L	S	-	2	0	MED1	34820237	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.292000	0.59031	2.739000	0.93911	0.561000	0.74099	TCG		0.512	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		33	82	0	0	0	0.080422	0	33	82				
SLC6A5	9152	broad.mit.edu	37	11	20628637	20628637	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr11:20628637C>T	ENST00000525748.1	+	4	1037	c.764C>T	c.(763-765)gCc>gTc	p.A255V		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	255					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)	p.A255V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GGCCAGTTTGCCAGCCAGGGA	0.572																																						ENST00000525748.1																			1	Substitution - Missense(1)	p.A255V(1)	prostate(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63						c.(763-765)gCc>gTc		solute carrier family 6 (neurotransmitter transporter), member 5	Glycine(DB00145)						93.0	83.0	86.0					11																	20628637		2203	4300	6503	SO:0001583	missense	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20628637C>T	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.764C>T	11.37:g.20628637C>T	ENSP00000434364:p.Ala255Val						p.A255V	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN			4	1037	+			255					O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	c.764C>T	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	C	35	5.499525	0.96355	.	.	ENSG00000165970	ENST00000525748	T	0.74737	-0.87	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.81725	0.4883	L	0.45051	1.395	0.80722	D	1	D	0.54601	0.967	P	0.62014	0.897	T	0.82319	-0.0516	10	0.66056	D	0.02	.	19.456	0.94889	0.0:1.0:0.0:0.0	.	255	Q9Y345	SC6A5_HUMAN	V	255	ENSP00000434364:A255V	ENSP00000434364:A255V	A	+	2	0	SLC6A5	20585213	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.776000	0.85560	2.767000	0.95098	0.655000	0.94253	GCC		0.572	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		3	42	0	0	0	0.004672	0	3	42				
TTN	7273	broad.mit.edu	37	2	179404631	179404631	+	Missense_Mutation	SNP	C	C	T	rs533651182		TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr2:179404631C>T	ENST00000591111.1	-	302	93462	c.93238G>A	c.(93238-93240)Gtc>Atc	p.V31080I	TTN-AS1_ENST00000588716.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V32721I|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V23656I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V30153I|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V23848I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V23781I			Q8WZ42	TITIN_HUMAN	titin	31080	Ig-like 139.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V23656I(2)|p.V30153I(1)|p.V30151I(1)|p.V23848I(1)|p.V23781I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTCTGATGACGCCACCTTGC	0.398													C|||	1	0.000199681	0.0	0.0	5008	,	,		24212	0.001		0.0	False		,,,				2504	0.0					ENST00000589042.1																			6	Substitution - Missense(6)	p.V23656I(2)|p.V30153I(1)|p.V30151I(1)|p.V23848I(1)|p.V23781I(1)	prostate(6)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(98161-98163)Gtc>Atc		titin							133.0	123.0	126.0					2																	179404631		1946	4154	6100	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179404631C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.93238G>A	2.37:g.179404631C>T	ENSP00000465570:p.Val31080Ile					TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V31080I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V23656I|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V30153I|TTN_ENST00000342175.6_Missense_Mutation_p.V23848I|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V23781I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA	p.V32721I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		352	98385	-			31080					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.98161G>A		.	.	.	.	.	.	.	.	.	.	C	17.74	3.464891	0.63513	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	6.17	6.17	0.99709	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.53238	0.1784	L	0.50333	1.59	0.49130	D	0.999752	D;D;D;D	0.55800	0.973;0.973;0.973;0.973	P;P;P;P	0.51101	0.586;0.586;0.586;0.659	T	0.51593	-0.8686	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	23656;23781;23848;31080	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	30153;23656;23848;23781;23653	ENSP00000343764:V30153I;ENSP00000434586:V23656I;ENSP00000340554:V23848I;ENSP00000352154:V23781I	ENSP00000340554:V23848I	V	-	1	0	TTN	179112877	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.026000	0.70873	2.941000	0.99782	0.655000	0.94253	GTC		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		24	55	0	0	0	0.099896	0	24	55				
SLC7A4	6545	broad.mit.edu	37	22	21384286	21384286	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr22:21384286C>T	ENST00000382932.2	-	3	1404	c.1337G>A	c.(1336-1338)gGc>gAc	p.G446D	SLC7A4_ENST00000403586.1_Missense_Mutation_p.G446D|AC002472.11_ENST00000450652.1_RNA	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	446					basic amino acid transport (GO:0015802)|cellular amino acid metabolic process (GO:0006520)|transport (GO:0006810)	integral component of membrane (GO:0016021)	basic amino acid transmembrane transporter activity (GO:0015174)	p.G446D(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GTGTACAGTGCCCACCAGCTG	0.657																																						ENST00000382932.2																			1	Substitution - Missense(1)	p.G446D(1)	prostate(1)	breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18						c.(1336-1338)gGc>gAc		solute carrier family 7, member 4	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						32.0	31.0	31.0					22																	21384286		2203	4300	6503	SO:0001583	missense	6545				cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity	g.chr22:21384286C>T	AJ000730	CCDS33608.1	22q11.21	2013-07-19	2013-07-19		ENSG00000099960	ENSG00000099960		"""Solute carriers"""	11062	protein-coding gene	gene with protein product		603752	"""solute carrier family 7 (cationic amino acid transporter, y+ system), member 4"", ""solute carrier family 7 (orphan transporter), member 4"""			9598310, 11665818	Standard	NM_004173		Approved	HCAT3, CAT-4, VH	uc002zud.3	O43246	OTTHUMG00000150896	ENST00000382932.2:c.1337G>A	22.37:g.21384286C>T	ENSP00000372390:p.Gly446Asp					SLC7A4_ENST00000403586.1_Missense_Mutation_p.G446D	p.G446D	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		3	1404	-	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	446					Q0P5U2|Q3KNQ6|Q4VC45|Q6IBY8|Q96H88	Missense_Mutation	SNP	ENST00000382932.2	37	c.1337G>A	CCDS33608.1	.	.	.	.	.	.	.	.	.	.	C	5.820	0.335588	0.11013	.	.	ENSG00000099960	ENST00000403586;ENST00000382932	D;D	0.85258	-1.96;-1.96	5.37	-4.25	0.03766	.	0.728890	0.11821	N	0.526167	T	0.77267	0.4105	L	0.54323	1.7	0.21822	N	0.999528	B	0.02656	0.0	B	0.06405	0.002	T	0.60156	-0.7318	10	0.14252	T	0.57	.	12.1782	0.54198	0.0:0.3039:0.0:0.6961	.	446	O43246	CTR4_HUMAN	D	446	ENSP00000384278:G446D;ENSP00000372390:G446D	ENSP00000372390:G446D	G	-	2	0	SLC7A4	19714286	0.004000	0.15560	0.005000	0.12908	0.047000	0.14425	-0.021000	0.12504	-0.570000	0.06022	-0.224000	0.12420	GGC		0.657	SLC7A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320467.1	NM_004173		6	19	0	0	0	0.021553	0	6	19				
DRD5	1816	broad.mit.edu	37	4	9783992	9783992	+	Silent	SNP	C	C	T	rs370317852		TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr4:9783992C>T	ENST00000304374.2	+	1	735	c.339C>T	c.(337-339)tgC>tgT	p.C113C		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	113					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.C113C(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GAGCGTTCTGCGACGTCTGGG	0.627																																						ENST00000304374.2																			1	Substitution - coding silent(1)	p.C113C(1)	prostate(1)	NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(337-339)tgC>tgT		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						51.0	49.0	50.0					4																	9783992		2203	4300	6503	SO:0001819	synonymous_variant	0				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9783992C>T	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.339C>T	4.37:g.9783992C>T							p.C113C	NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN			1	735	+			113					B2R9S3|Q8NEQ8	Silent	SNP	ENST00000304374.2	37	c.339C>T	CCDS3405.1																																																																																				0.627	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			25	28	0	0	0	0.076483	0	25	28				
CD82	3732	broad.mit.edu	37	11	44626916	44626916	+	Silent	SNP	C	C	T			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr11:44626916C>T	ENST00000227155.4	+	6	521	c.273C>T	c.(271-273)ttC>ttT	p.F91F	CD82_ENST00000342935.3_Intron|CD82_ENST00000530931.1_3'UTR|RP11-58K22.5_ENST00000533814.1_RNA|RP11-58K22.4_ENST00000532524.1_RNA	NM_002231.3	NP_002222.1	P27701	CD82_HUMAN	CD82 molecule	91						extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.F91F(1)		large_intestine(1)|ovary(1)	2						ACTTTGCTTTCCTGCTCCTGA	0.617																																						ENST00000227155.4																			1	Substitution - coding silent(1)	p.F91F(1)	prostate(1)	large_intestine(1)|ovary(1)	2						c.(271-273)ttC>ttT		CD82 molecule							116.0	100.0	106.0					11																	44626916		2203	4299	6502	SO:0001819	synonymous_variant	3732					integral to plasma membrane	protein binding	g.chr11:44626916C>T	U20770	CCDS7909.1, CCDS31469.1	11p11.2	2013-02-14	2006-03-28	2005-03-03		ENSG00000085117		"""CD molecules"", ""Tetraspanins"""	6210	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 6"", ""R2 leukocyte antigen"""	600623	"""kangai 1 (suppression of tumorigenicity 6, prostate; CD82 antigen (R2 leukocyte antigen, antigen detected by monoclonal and antibody IA4))"", ""CD82 antigen"""	ST6, KAI1			Standard	XM_006718222		Approved	R2, IA4, TSPAN27	uc001myc.3	P27701		ENST00000227155.4:c.273C>T	11.37:g.44626916C>T						CD82_ENST00000530931.1_3'UTR|CD82_ENST00000342935.3_Intron	p.F91F	NM_002231.3	NP_002222.1	P27701	CD82_HUMAN			6	521	+			91					D3DQN6|E9PC70|Q7Z2D4|Q7Z5N2	Silent	SNP	ENST00000227155.4	37	c.273C>T	CCDS7909.1																																																																																				0.617	CD82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389886.1			27	32	0	0	0	0.041601	0	27	32				
SIGLEC5	8778	broad.mit.edu	37	19	52130800	52130800	+	Silent	SNP	G	G	A			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr19:52130800G>A	ENST00000534261.2	-	7	1596	c.1197C>T	c.(1195-1197)caC>caT	p.H399H	SIGLEC5_ENST00000599649.1_Silent_p.H399H|SIGLEC5_ENST00000429354.3_Silent_p.H399H|SIGLEC5_ENST00000222107.4_Silent_p.H399H|SIGLEC5_ENST00000570106.2_Silent_p.H399H			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	399					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.H399H(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TGAGCCCCCCGTGGAGGATCA	0.627																																						ENST00000222107.4																			1	Substitution - coding silent(1)	p.H399H(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(1195-1197)caC>caT		sialic acid binding Ig-like lectin 5							53.0	51.0	52.0					19																	52130800		2203	4300	6503	SO:0001819	synonymous_variant	8778				cell adhesion	integral to membrane	sugar binding	g.chr19:52130800G>A	U71383	CCDS33088.1	19q13.41	2013-01-29			ENSG00000105501	ENSG00000105501		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10874	protein-coding gene	gene with protein product		604200		CD33L2		10343116	Standard	NM_003830		Approved	OB-BP2, SIGLEC-5, CD170	uc002pxe.4	O15389	OTTHUMG00000165510	ENST00000534261.2:c.1197C>T	19.37:g.52130800G>A						SIGLEC5_ENST00000570106.2_Silent_p.H399H|SIGLEC5_ENST00000429354.3_Silent_p.H399H|SIGLEC5_ENST00000534261.2_Silent_p.H399H|SIGLEC5_ENST00000599649.1_Silent_p.H399H	p.H399H			O15389	SIGL5_HUMAN		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)	6	1335	-		all_neural(266;0.0726)	399						Silent	SNP	ENST00000534261.2	37	c.1197C>T	CCDS33088.1																																																																																				0.627	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466897.2	NM_003830		20	39	0	0	0	0.062417	0	20	39				
NOTCH2	4853	broad.mit.edu	37	1	120539834	120539834	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr1:120539834A>T	ENST00000256646.2	-	4	756	c.537T>A	c.(535-537)tgT>tgA	p.C179*	NOTCH2_ENST00000602566.1_Nonsense_Mutation_p.C140*	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	179	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.C179*(1)|p.C140*(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATCAGTCTCACATTTCTGCC	0.552			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		2	Substitution - Nonsense(2)	p.C179*(1)|p.C140*(1)	prostate(2)	breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(535-537)tgT>tgA		notch 2							115.0	89.0	98.0					1																	120539834		2202	4300	6502	SO:0001587	stop_gained	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120539834A>T	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.537T>A	1.37:g.120539834A>T	ENSP00000256646:p.Cys179*					NOTCH2_ENST00000602566.1_Nonsense_Mutation_p.C140*	p.C179*	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	756	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	179			EGF-like 4.		Q5T3X7|Q99734|Q9H240	Nonsense_Mutation	SNP	ENST00000256646.2	37	c.537T>A	CCDS908.1	.	.	.	.	.	.	.	.	.	.	A	37	6.561929	0.97667	.	.	ENSG00000134250	ENST00000256646;ENST00000539617;ENST00000401649;ENST00000369342	.	.	.	5.83	3.53	0.40419	.	0.000000	0.41194	U	0.000921	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.8688	0.35303	0.7868:0.0:0.2132:0.0	.	.	.	.	X	179;140;152;140	.	ENSP00000256646:C179X	C	-	3	2	NOTCH2	120341357	0.976000	0.34144	0.998000	0.56505	0.933000	0.57130	0.678000	0.25277	1.020000	0.39573	0.477000	0.44152	TGT		0.552	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		9	81	0	0	0	0.058154	0	9	81				
BTBD9	114781	broad.mit.edu	37	6	38548004	38548004	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr6:38548004G>A	ENST00000481247.1	-	5	1175	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*	BTBD9_ENST00000314100.6_Nonsense_Mutation_p.R274*|BTBD9_ENST00000403056.1_Nonsense_Mutation_p.R342*|BTBD9_ENST00000419706.2_Nonsense_Mutation_p.R283*|BTBD9_ENST00000408958.1_Nonsense_Mutation_p.R274*	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	342					adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|circadian sleep/wake cycle, non-REM sleep (GO:0042748)|long-term memory (GO:0007616)|multicellular organismal iron ion homeostasis (GO:0060586)|regulation of synaptic vesicle endocytosis (GO:1900242)|sensory perception of temperature stimulus (GO:0050951)|serotonin metabolic process (GO:0042428)			p.R274*(2)|p.R342*(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						CGGCTATCTCGGTCCCACAAG	0.413																																						ENST00000481247.1																			3	Substitution - Nonsense(3)	p.R274*(2)|p.R342*(1)	prostate(3)	breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						c.(1024-1026)Cga>Tga		BTB (POZ) domain containing 9							97.0	93.0	94.0					6																	38548004		1892	4113	6005	SO:0001587	stop_gained	114781				cell adhesion			g.chr6:38548004G>A		CCDS43458.1, CCDS47418.1, CCDS54998.1	6p21	2014-01-28			ENSG00000183826	ENSG00000183826		"""BTB/POZ domain containing"""	21228	protein-coding gene	gene with protein product		611237				11572484	Standard	NM_052893		Approved	KIAA1880, dJ322I12.1	uc010jwx.3	Q96Q07	OTTHUMG00000014634	ENST00000481247.1:c.1024C>T	6.37:g.38548004G>A	ENSP00000418751:p.Arg342*					BTBD9_ENST00000419706.2_Nonsense_Mutation_p.R283*|BTBD9_ENST00000403056.1_Nonsense_Mutation_p.R342*|BTBD9_ENST00000408958.1_Nonsense_Mutation_p.R274*|BTBD9_ENST00000314100.6_Nonsense_Mutation_p.R274*	p.R342*	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN			5	1175	-			342					Q494V9|Q494W1|Q96M00	Nonsense_Mutation	SNP	ENST00000481247.1	37	c.1024C>T	CCDS47418.1	.	.	.	.	.	.	.	.	.	.	G	39	7.519674	0.98335	.	.	ENSG00000183826	ENST00000314100;ENST00000481247;ENST00000419706;ENST00000403056;ENST00000408958	.	.	.	5.63	5.63	0.86233	.	0.102853	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3883	0.74723	0.0:0.0:0.8523:0.1477	.	.	.	.	X	274;342;283;342;274	.	ENSP00000323408:R274X	R	-	1	2	BTBD9	38655982	1.000000	0.71417	1.000000	0.80357	0.589000	0.36550	2.995000	0.49441	2.665000	0.90641	0.655000	0.94253	CGA		0.413	BTBD9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040433.2	NM_152733		4	38	0	0	0	0.009096	0	4	38				
DGKH	160851	broad.mit.edu	37	13	42761271	42761271	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr13:42761271C>T	ENST00000337343.4	+	14	1646	c.1625C>T	c.(1624-1626)gCc>gTc	p.A542V	DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000261491.5_Missense_Mutation_p.A542V|DGKH_ENST00000538674.1_Missense_Mutation_p.A297V|DGKH_ENST00000536612.1_Missense_Mutation_p.A406V|DGKH_ENST00000379274.2_Missense_Mutation_p.A406V|DGKH_ENST00000540693.1_Missense_Mutation_p.A542V	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	542					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.A542V(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GTAGCTGATGCCGTGGCCAGT	0.423																																						ENST00000379274.2																			1	Substitution - Missense(1)	p.A542V(1)	prostate(1)	breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1216-1218)gCc>gTc		diacylglycerol kinase, eta							110.0	122.0	118.0					13																	42761271		2203	4300	6503	SO:0001583	missense	160851				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr13:42761271C>T	AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.1625C>T	13.37:g.42761271C>T	ENSP00000337572:p.Ala542Val					DGKH_ENST00000337343.4_Missense_Mutation_p.A542V|DGKH_ENST00000261491.4_Missense_Mutation_p.A542V|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000540693.1_Missense_Mutation_p.A542V|DGKH_ENST00000538674.1_Missense_Mutation_p.A297V|DGKH_ENST00000536612.1_Missense_Mutation_p.A406V	p.A406V			Q86XP1	DGKH_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)	14	1646	+		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)	542			DAGKc.		A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Missense_Mutation	SNP	ENST00000337343.4	37	c.1217C>T	CCDS9381.1	.	.	.	.	.	.	.	.	.	.	C	7.300	0.612818	0.14066	.	.	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491;ENST00000379274;ENST00000536612;ENST00000538674	T;T;T;T;T;T	0.79845	-1.31;-1.13;-1.31;-1.3;-1.3;1.93	5.57	5.57	0.84162	.	0.337778	0.31554	N	0.007454	T	0.74496	0.3724	L	0.38531	1.155	0.48040	D	0.999576	B;B;B;B	0.16802	0.0;0.0;0.019;0.0	B;B;B;B	0.17098	0.003;0.007;0.017;0.002	T	0.67738	-0.5593	10	0.19590	T	0.45	.	19.557	0.95354	0.0:1.0:0.0:0.0	.	297;406;542;542	F5GYP2;Q86XP1-3;Q86XP1-2;Q86XP1	.;.;.;DGKH_HUMAN	V	542;542;542;406;406;297	ENSP00000440823:A542V;ENSP00000337572:A542V;ENSP00000261491:A542V;ENSP00000368576:A406V;ENSP00000445114:A406V;ENSP00000441308:A297V	ENSP00000261491:A542V	A	+	2	0	DGKH	41659271	0.019000	0.18553	0.352000	0.25734	0.011000	0.07611	2.418000	0.44662	2.630000	0.89119	0.655000	0.94253	GCC		0.423	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	NM_178009		4	170	0	0	0	0.014758	0	4	170				
RP11-435B5.5	0	broad.mit.edu	37	1	143391923	143391924	+	lincRNA	DEL	AT	AT	-			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr1:143391923_143391924delAT	ENST00000428624.1	+	0	2065				RP11-435B5.4_ENST00000423249.1_lincRNA																							TATTTTGGAGATATATATATAT	0.262																																						ENST00000428624.1																			0																																																			0							g.chr1:143391923_143391924delAT																													1.37:g.143391933_143391934delAT						RP11-435B5.4_ENST00000423249.1_lincRNA								0	2065	+									RNA	DEL	ENST00000428624.1	37																																																																																						0.262	RP11-435B5.5-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	lincRNA	OTTHUMT00000037971.1			3	6						3	6	---	---	---	---
CHERP	10523	broad.mit.edu	37	19	16640581	16640583	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr19:16640581_16640583delTGC	ENST00000198939.6	-	8	1074_1076	c.1038_1040delGCA	c.(1036-1041)cagcaa>caa	p.346_347QQ>Q	CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000546361.2_In_Frame_Del_p.335_336QQ>Q					calcium homeostasis endoplasmic reticulum protein											endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						ctgctgctgttgctgctgctgct	0.67																																						ENST00000546361.2																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						c.(1003-1008)caa>ca		calcium homeostasis endoplasmic reticulum protein																																				SO:0001651	inframe_deletion	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16640581_16640583delTGC	U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"""G patch domain containing"""	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.1038_1040delGCA	19.37:g.16640590_16640592delTGC	ENSP00000198939:p.Gln352del					CHERP_ENST00000198939.6_In_Frame_Del_p.QQ350del|CTD-3222D19.2_ENST00000409035.1_Intron	p.QQ339del	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN			8	1156_1158	-			339			Gln-rich.			In_Frame_Del	DEL	ENST00000198939.6	37	c.1005_1007delGCA																																																																																					0.670	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000403372.1	NM_006387		8	50						8	50	---	---	---	---
CHD6	84181	broad.mit.edu	37	20	40118655	40118656	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr20:40118655_40118656insT	ENST00000373233.3	-	12	1619_1620	c.1442_1443insA	c.(1441-1443)aacfs	p.N481fs	CHD6_ENST00000309279.7_Frame_Shift_Ins_p.N481fs	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	481	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CCAAAATACAGTTTTTTCTGCA	0.376																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(1441-1443)atgfs		chromodomain helicase DNA binding protein 6																																				SO:0001589	frameshift_variant	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40118655_40118656insT	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.1443dupA	20.37:g.40118661_40118661dupT	ENSP00000362330:p.Asn481fs					CHD6_ENST00000309279.7_Frame_Shift_Ins_p.M481fs	p.M481fs	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			12	1619_1620	-		Myeloproliferative disorder(115;0.00425)	481			Helicase ATP-binding.		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Frame_Shift_Ins	INS	ENST00000373233.3	37	c.1442_1443insA	CCDS13317.1																																																																																				0.376	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			73	126						73	126	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11085940	11085942	+	RNA	DEL	CAC	CAC	-			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr21:11085940_11085942delCAC	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccaccaccatcaccaccaccacc	0.532																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11085940_11085942delCAC	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11085949_11085951delCAC												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.532	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		3	3						3	3	---	---	---	---
