#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
MTFR1	9650	broad.mit.edu	37	8	66605935	66605935	+	Silent	SNP	G	G	A	rs148137982		TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr8:66605935G>A	ENST00000262146.4	+	4	348	c.222G>A	c.(220-222)gcG>gcA	p.A74A	MTFR1_ENST00000458689.2_Silent_p.A41A|MTFR1_ENST00000517944.1_3'UTR	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	74					aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			ATGCAGTGGCGTCTTTTGCTG	0.448																																						ENST00000262146.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11						c.(220-222)gcG>gcA		mitochondrial fission regulator 1		G	,,	1,4405	2.1+/-5.4	0,1,2202	101.0	89.0	93.0		123,222,222	-11.7	0.0	8	dbSNP_134	93	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	MTFR1	NM_001145838.1,NM_001145839.1,NM_014637.3	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	41/301,74/349,74/334	66605935	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9650					mitochondrion|plasma membrane		g.chr8:66605935G>A		CCDS6182.1, CCDS55240.1	8q13.1	2012-11-30							29510	protein-coding gene	gene with protein product	"""likely ortholog of chicken chondrocyte protein with a poly proline region"""					7584026, 7584028, 15389597	Standard	NM_014637		Approved	CHPPR, KIAA0009, FAM54A2	uc003xvn.2	Q15390		ENST00000262146.4:c.222G>A	8.37:g.66605935G>A						MTFR1_ENST00000517944.1_3'UTR|MTFR1_ENST00000458689.2_Silent_p.A41A	p.A74A	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)		4	348	+			74					E7EP84|Q6IB94|Q7Z669|Q86XH5|Q8IVD7	Silent	SNP	ENST00000262146.4	37	c.222G>A	CCDS6182.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.973708	0.00452	2.27E-4	0.0	ENSG00000066855	ENST00000518800	.	.	.	5.83	-11.7	0.00046	.	.	.	.	.	T	0.22360	0.0539	.	.	.	0.24927	N	0.991948	.	.	.	.	.	.	T	0.11641	-1.0579	4	.	.	.	-8.7147	7.4632	0.27306	0.0872:0.1995:0.532:0.1812	.	.	.	.	H	32	.	.	R	+	2	0	MTFR1	66768489	0.000000	0.05858	0.001000	0.08648	0.271000	0.26615	-3.213000	0.00555	-3.799000	0.00105	-2.594000	0.00164	CGT		0.448	MTFR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378894.1	NM_014637		5	51	0	0	0	1	0	5	51				
ZNF567	163081	broad.mit.edu	37	19	37211064	37211064	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr19:37211064C>T	ENST00000536254.2	+	6	1660	c.1438C>T	c.(1438-1440)Cct>Tct	p.P480S	ZNF567_ENST00000588311.1_Missense_Mutation_p.P449S|ZNF567_ENST00000585696.1_Missense_Mutation_p.P449S|ZNF567_ENST00000392163.2_Missense_Mutation_p.P449S|ZNF567_ENST00000360729.4_Missense_Mutation_p.P449S|ZNF850_ENST00000589390.1_Intron			Q8N184	ZN567_HUMAN	zinc finger protein 567	480					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TTATGAATGTCCTCACTGTGG	0.418																																						ENST00000585696.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(1345-1347)Cct>Tct		zinc finger protein 567							87.0	87.0	87.0					19																	37211064		2203	4300	6503	SO:0001583	missense	163081				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37211064C>T	AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"""Zinc fingers, C2H2-type"", ""-"""	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.1438C>T	19.37:g.37211064C>T	ENSP00000441838:p.Pro480Ser					ZNF567_ENST00000392163.2_Missense_Mutation_p.P449S|ZNF567_ENST00000360729.4_Missense_Mutation_p.P449S|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000588311.1_Missense_Mutation_p.P449S|ZNF567_ENST00000536254.2_Missense_Mutation_p.P480S	p.P449S			Q8N184	ZN567_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		3	2575	+	Esophageal squamous(110;0.198)		480					B3KX49|Q6N044	Missense_Mutation	SNP	ENST00000536254.2	37	c.1345C>T		.	.	.	.	.	.	.	.	.	.	C	9.166	1.019936	0.19355	.	.	ENSG00000189042	ENST00000536254;ENST00000378686;ENST00000360729;ENST00000423498;ENST00000392163	T;T;T	0.07021	3.23;3.23;3.23	4.88	1.26	0.21427	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.175622	0.27861	N	0.017558	T	0.06371	0.0164	N	0.01473	-0.845	0.80722	D	1	B;D	0.63880	0.014;0.993	B;D	0.72075	0.01;0.976	T	0.50189	-0.8857	10	0.21014	T	0.42	.	7.7515	0.28901	0.4304:0.4235:0.1461:0.0	.	480;449	Q8N184;F8WEL6	ZN567_HUMAN;.	S	480;424;449;479;449	ENSP00000441838:P480S;ENSP00000353957:P449S;ENSP00000376003:P449S	ENSP00000353957:P449S	P	+	1	0	ZNF567	41902904	0.000000	0.05858	1.000000	0.80357	0.986000	0.74619	-2.513000	0.00957	0.736000	0.32559	0.561000	0.74099	CCT		0.418	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000453549.1	NM_152603		25	30	0	0	0	1	0	25	30				
ABCB11	8647	broad.mit.edu	37	2	169783826	169783826	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr2:169783826C>T	ENST00000263817.6	-	26	3582	c.3458G>A	c.(3457-3459)cGc>cAc	p.R1153H		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1153	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.		R -> C (in PFIC2). {ECO:0000269|PubMed:9806540}.		bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	AATGTTTGAGCGGAGGAACTG	0.413																																						ENST00000263817.6																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57	GRCh37	CM081495	ABCB11	M		c.(3457-3459)cGc>cAc		ATP-binding cassette, sub-family B (MDR/TAP), member 11	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						117.0	107.0	110.0					2																	169783826		1882	4134	6016	SO:0001583	missense	8647				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	g.chr2:169783826C>T	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.3458G>A	2.37:g.169783826C>T	ENSP00000263817:p.Arg1153His						p.R1153H	NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN			26	3582	-			1153		R -> C (in PFIC2).	ABC transporter 2.		Q53TL2|Q9UNB2	Missense_Mutation	SNP	ENST00000263817.6	37	c.3458G>A	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.197994	0.79015	.	.	ENSG00000073734	ENST00000263817	D	0.94793	-3.52	5.72	5.72	0.89469	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.97167	0.9074	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97468	1.0039	10	0.87932	D	0	.	18.8517	0.92235	0.0:1.0:0.0:0.0	.	1153	O95342	ABCBB_HUMAN	H	1153	ENSP00000263817:R1153H	ENSP00000263817:R1153H	R	-	2	0	ABCB11	169492072	1.000000	0.71417	1.000000	0.80357	0.235000	0.25334	7.792000	0.85828	2.694000	0.91930	0.655000	0.94253	CGC		0.413	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		18	31	0	0	0	1	0	18	31				
MYH13	8735	broad.mit.edu	37	17	10258003	10258003	+	Silent	SNP	C	C	T	rs202154427	byFrequency	TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr17:10258003C>T	ENST00000418404.3	-	10	1162	c.999G>A	c.(997-999)gcG>gcA	p.A333A	MYH13_ENST00000252172.4_Silent_p.A333A			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	333	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TTACATCTGTCGCCAGCAGTT	0.468													C|||	2	0.000399361	0.0	0.0	5008	,	,		21113	0.002		0.0	False		,,,				2504	0.0					ENST00000418404.3																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(997-999)gcG>gcA		myosin, heavy chain 13, skeletal muscle							97.0	95.0	96.0					17																	10258003		1982	4174	6156	SO:0001819	synonymous_variant	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10258003C>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.999G>A	17.37:g.10258003C>T						MYH13_ENST00000252172.4_Silent_p.A333A|MYH13_ENST00000570743.1_Silent_p.A333A	p.A333A			Q9UKX3	MYH13_HUMAN			10	1162	-			333			Myosin head-like.		O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	c.999G>A	CCDS45613.1																																																																																				0.468	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		17	17	0	0	0	1	0	17	17				
UCP1	7350	broad.mit.edu	37	4	141481157	141481157	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr4:141481157G>T	ENST00000262999.3	-	6	892	c.817C>A	c.(817-819)Cct>Act	p.P273T		NM_021833.4	NP_068605.1	P25874	UCP1_HUMAN	uncoupling protein 1 (mitochondrial, proton carrier)	273					brown fat cell differentiation (GO:0050873)|cellular metabolic process (GO:0044237)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16	all_hematologic(180;0.162)					AAGAAGGAAGGTACCAACCTA	0.418																																						ENST00000262999.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16						c.(817-819)Cct>Act		uncoupling protein 1 (mitochondrial, proton carrier)							162.0	127.0	139.0					4																	141481157		2203	4300	6503	SO:0001583	missense	7350				brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding	g.chr4:141481157G>T	X51955	CCDS3753.1	4q28-q31	2013-05-22			ENSG00000109424	ENSG00000109424		"""Solute carriers"""	12517	protein-coding gene	gene with protein product		113730		UCP		2380264	Standard	NM_021833		Approved	SLC25A7	uc011chj.2	P25874	OTTHUMG00000133415	ENST00000262999.3:c.817C>A	4.37:g.141481157G>T	ENSP00000262999:p.Pro273Thr						p.P273T	NM_021833.4	NP_068605.1	P25874	UCP1_HUMAN			6	892	-	all_hematologic(180;0.162)		273					Q13218|Q4KMZ3|Q68G66	Missense_Mutation	SNP	ENST00000262999.3	37	c.817C>A	CCDS3753.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.734368	0.69189	.	.	ENSG00000109424	ENST00000262999	D	0.81908	-1.55	5.17	4.32	0.51571	Mitochondrial carrier domain (2);	0.057578	0.64402	D	0.000001	D	0.90731	0.7091	M	0.89478	3.035	0.48696	D	0.999696	D;D	0.55385	0.971;0.971	P;P	0.59012	0.85;0.85	D	0.92354	0.5892	10	0.87932	D	0	.	14.0401	0.64669	0.0:0.1519:0.8481:0.0	.	272;273	Q4KMT7;P25874	.;UCP1_HUMAN	T	273	ENSP00000262999:P273T	ENSP00000262999:P273T	P	-	1	0	UCP1	141700607	1.000000	0.71417	0.848000	0.33437	0.793000	0.44817	7.392000	0.79840	1.285000	0.44548	0.591000	0.81541	CCT		0.418	UCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257273.1			13	29	1	0	5.50884e-06	1	5.99207e-06	13	29				
ANKRD30BL	554226	broad.mit.edu	37	2	132912310	132912310	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr2:132912310C>T	ENST00000409867.1	-	4	788	c.539G>A	c.(538-540)aGg>aAg	p.R180K	ANKRD30BL_ENST00000470729.1_5'UTR|RNU6-1132P_ENST00000459214.1_RNA			A7E2S9	A30BL_HUMAN	ankyrin repeat domain 30B-like	180										endometrium(1)|kidney(3)	4						ACTTCTTTTCCTTATGGCCAG	0.294																																						ENST00000409867.1																			0				endometrium(1)|kidney(3)	4						c.(538-540)aGg>aAg		ankyrin repeat domain 30B-like																																				SO:0001583	missense	554226							g.chr2:132912310C>T			2q21.2	2013-01-22	2010-06-14	2010-06-14	ENSG00000163046	ENSG00000163046		"""Ankyrin repeat domain containing"""	35167	protein-coding gene	gene with protein product			"""non-protein coding RNA 164"", ""ankyrin repeat domain 30B pseudogene 3"""	NCRNA00164, ANKRD30BP3		17114284	Standard	NR_027019		Approved		uc002tti.3	A7E2S9	OTTHUMG00000153491	ENST00000409867.1:c.539G>A	2.37:g.132912310C>T	ENSP00000386398:p.Arg180Lys					ANKRD30BL_ENST00000470729.1_5'UTR	p.R180K							4	788	-								B8ZZL7	Missense_Mutation	SNP	ENST00000409867.1	37	c.539G>A		.	.	.	.	.	.	.	.	.	.	.	4.565	0.104997	0.08731	.	.	ENSG00000163046	ENST00000409867	T	0.65364	-0.15	0.569	0.569	0.17340	.	.	.	.	.	T	0.47911	0.1471	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.37430	-0.9706	5	0.24483	T	0.36	.	.	.	.	.	.	.	.	K	180	ENSP00000386398:R180K	ENSP00000295181:R180K	R	-	2	0	ANKRD30BL	132628780	0.000000	0.05858	0.113000	0.21522	0.399000	0.30720	-2.046000	0.01409	0.567000	0.29293	0.184000	0.17185	AGG		0.294	ANKRD30BL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331353.2	NR_027019		4	6	0	0	0	1	0	4	6				
UBLCP1	134510	broad.mit.edu	37	5	158696047	158696047	+	Missense_Mutation	SNP	C	C	T	rs375712033		TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr5:158696047C>T	ENST00000296786.6	+	2	450	c.124C>T	c.(124-126)Cgc>Tgc	p.R42C		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	42	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.					nucleolus (GO:0005730)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)			endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTTCCAGAACGCCAAAAGTT	0.363																																						ENST00000296786.6																			0				endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9						c.(124-126)Cgc>Tgc		ubiquitin-like domain containing CTD phosphatase 1		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	98.0	93.0	94.0		124	6.0	1.0	5		94	0,8600		0,0,4300	no	missense	UBLCP1	NM_145049.3	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	42/319	158696047	1,13005	2203	4300	6503	SO:0001583	missense	134510					nucleus	phosphoprotein phosphatase activity	g.chr5:158696047C>T	AK057996	CCDS4345.1	5q33.3	2010-06-21			ENSG00000164332	ENSG00000164332	3.1.3.16	"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	28110	protein-coding gene	gene with protein product	"""CTD phosphatase-like with ubiquitin domain 1"""	609867				15883030	Standard	NM_145049		Approved	MGC10067, CPUB1	uc003lxq.2	Q8WVY7	OTTHUMG00000130305	ENST00000296786.6:c.124C>T	5.37:g.158696047C>T	ENSP00000296786:p.Arg42Cys						p.R42C	NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	450	+	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	42			Ubiquitin-like.		D3DQJ7|Q96DK5	Missense_Mutation	SNP	ENST00000296786.6	37	c.124C>T	CCDS4345.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.612835	0.87258	2.27E-4	0.0	ENSG00000164332	ENST00000296786	T	0.74632	-0.86	6.02	6.02	0.97574	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.85682	D	0.000000	D	0.91670	0.7367	H	0.96748	3.875	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.93439	0.6792	10	0.87932	D	0	-5.999	20.547	0.99278	0.0:1.0:0.0:0.0	.	42	Q8WVY7	UBCP1_HUMAN	C	42	ENSP00000296786:R42C	ENSP00000296786:R42C	R	+	1	0	UBLCP1	158628625	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.626000	0.61269	2.850000	0.98022	0.650000	0.86243	CGC		0.363	UBLCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252650.2	NM_145049		9	86	0	0	0	1	0	9	86				
SCYL2	55681	broad.mit.edu	37	12	100706286	100706286	+	Missense_Mutation	SNP	A	A	G			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr12:100706286A>G	ENST00000360820.2	+	6	1144	c.707A>G	c.(706-708)gAa>gGa	p.E236G		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	236	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TTGGCTCCTGAATACATACTT	0.343																																						ENST00000360820.2																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						c.(706-708)gAa>gGa		SCY1-like 2 (S. cerevisiae)							79.0	74.0	76.0					12																	100706286		2203	4300	6503	SO:0001583	missense	55681				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding	g.chr12:100706286A>G	AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.707A>G	12.37:g.100706286A>G	ENSP00000354061:p.Glu236Gly						p.E236G	NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN			6	1144	+			236			Protein kinase.		A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Missense_Mutation	SNP	ENST00000360820.2	37	c.707A>G	CCDS9076.1	.	.	.	.	.	.	.	.	.	.	A	29.6	5.022243	0.93462	.	.	ENSG00000136021	ENST00000549687;ENST00000548392;ENST00000258506;ENST00000360820	D;D;D	0.90004	-2.6;-2.6;-2.6	5.73	5.73	0.89815	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95965	0.8686	H	0.94847	3.59	0.80722	D	1	D	0.64830	0.994	D	0.71414	0.973	D	0.96920	0.9673	10	0.66056	D	0.02	-10.2963	16.0329	0.80593	1.0:0.0:0.0:0.0	.	236	Q6P3W7	SCYL2_HUMAN	G	236;63;63;236	ENSP00000448366:E236G;ENSP00000450294:E63G;ENSP00000354061:E236G	ENSP00000258506:E63G	E	+	2	0	SCYL2	99230417	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.108000	0.94275	2.197000	0.70478	0.533000	0.62120	GAA		0.343	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988		7	54	0	0	0	1	0	7	54				
GPR125	166647	broad.mit.edu	37	4	22389867	22389867	+	Missense_Mutation	SNP	T	T	C	rs143592195	byFrequency	TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr4:22389867T>C	ENST00000334304.5	-	19	3696	c.3427A>G	c.(3427-3429)Aca>Gca	p.T1143A	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1143					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				GAATGTTCTGTCAGACTATTA	0.453																																						ENST00000334304.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(3427-3429)Aca>Gca		G protein-coupled receptor 125							75.0	80.0	79.0					4																	22389867		2203	4300	6503	SO:0001583	missense	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22389867T>C	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.3427A>G	4.37:g.22389867T>C	ENSP00000334952:p.Thr1143Ala					GPR125_ENST00000282943.5_5'UTR	p.T1143A	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			19	3696	-		Breast(46;0.198)	1143					Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	c.3427A>G	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	T	16.42	3.118862	0.56505	.	.	ENSG00000152990	ENST00000334304	T	0.54279	0.58	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.62356	0.2421	M	0.62723	1.935	0.80722	D	1	P;D	0.55605	0.875;0.972	P;P	0.53549	0.729;0.675	T	0.60409	-0.7269	10	0.30078	T	0.28	-10.8251	15.8613	0.79021	0.0:0.0:0.0:1.0	.	1000;1143	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	A	1143	ENSP00000334952:T1143A	ENSP00000334952:T1143A	T	-	1	0	GPR125	21998965	1.000000	0.71417	0.777000	0.31699	0.883000	0.51084	7.495000	0.81514	2.131000	0.65755	0.528000	0.53228	ACA		0.453	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			28	46	0	0	0	1	0	28	46				
CCDC42	146849	broad.mit.edu	37	17	8638450	8638450	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr17:8638450C>A	ENST00000293845.3	-	6	1063	c.837G>T	c.(835-837)gaG>gaT	p.E279D	CCDC42_ENST00000539522.2_Missense_Mutation_p.E205D	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	279										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						CCAGTGCCACCTCAGTCACCT	0.612																																						ENST00000293845.3																			0				kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						c.(835-837)gaG>gaT		coiled-coil domain containing 42							108.0	90.0	96.0					17																	8638450		2203	4300	6503	SO:0001583	missense	146849							g.chr17:8638450C>A	AK057296	CCDS11145.1, CCDS54088.1	17p13.1	2012-05-28			ENSG00000161973	ENSG00000161973			26528	protein-coding gene	gene with protein product							Standard	NM_144681		Approved	FLJ32734, CCDC42A	uc002gln.3	Q96M95		ENST00000293845.3:c.837G>T	17.37:g.8638450C>A	ENSP00000293845:p.Glu279Asp					CCDC42_ENST00000539522.2_Missense_Mutation_p.E205D	p.E279D	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN			6	1063	-			279					Q8N6Q0	Missense_Mutation	SNP	ENST00000293845.3	37	c.837G>T	CCDS11145.1	.	.	.	.	.	.	.	.	.	.	C	0.160	-1.082085	0.01888	.	.	ENSG00000161973	ENST00000293845;ENST00000539522	T;T	0.23552	1.93;1.9	5.11	-6.39	0.01951	.	3.909620	0.00575	N	0.000317	T	0.10252	0.0251	N	0.14661	0.345	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.17992	-1.0351	10	0.10636	T	0.68	2.4966	0.2927	0.00261	0.3008:0.2337:0.1333:0.3322	.	279	Q96M95	CCD42_HUMAN	D	279;205	ENSP00000293845:E279D;ENSP00000444359:E205D	ENSP00000293845:E279D	E	-	3	2	CCDC42	8579175	0.000000	0.05858	0.004000	0.12327	0.003000	0.03518	-2.250000	0.01187	-0.791000	0.04486	-0.867000	0.03001	GAG		0.612	CCDC42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442491.1	NM_144681		6	25	1	0	8.12818e-05	1	8.54148e-05	6	25				
RPS6KB2	6199	broad.mit.edu	37	11	67198879	67198879	+	Missense_Mutation	SNP	G	G	A	rs543512293	byFrequency	TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr11:67198879G>A	ENST00000312629.5	+	5	395	c.350G>A	c.(349-351)cGg>cAg	p.R117Q	AP003419.16_ENST00000535922.1_RNA|RPS6KB2_ENST00000539188.1_Missense_Mutation_p.R117Q|RPS6KB2_ENST00000524814.1_Intron	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	117	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|signal transduction (GO:0007165)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GCACACACACGGGCTGAGCGG	0.527													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		18103	0.0		0.0	False		,,,				2504	0.0					ENST00000312629.5																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25						c.(349-351)cGg>cAg		ribosomal protein S6 kinase, 70kDa, polypeptide 2							110.0	116.0	114.0					11																	67198879		2126	4248	6374	SO:0001583	missense	6199				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:67198879G>A	AB019245	CCDS41677.1	11q13.1	2011-04-05	2002-08-29		ENSG00000175634	ENSG00000175634			10437	protein-coding gene	gene with protein product		608939	"""ribosomal protein S6 kinase, 70kD, polypeptide 2"""			9878560, 9804755	Standard	XM_005274164		Approved	p70S6Kb, P70-BETA, STK14B, KLS	uc001old.3	Q9UBS0	OTTHUMG00000167673	ENST00000312629.5:c.350G>A	11.37:g.67198879G>A	ENSP00000308413:p.Arg117Gln					RPS6KB2_ENST00000524814.1_Intron|RPS6KB2_ENST00000539188.1_Missense_Mutation_p.R117Q|AP003419.16_ENST00000535922.1_RNA	p.R117Q	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		5	395	+			117			Protein kinase.		B2RMZ9|B4DML8|O94809|Q9UEC1	Missense_Mutation	SNP	ENST00000312629.5	37	c.350G>A	CCDS41677.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.694869	0.48202	.	.	ENSG00000175634	ENST00000539188;ENST00000312629	T;T	0.49139	0.79;1.82	5.56	2.7	0.31948	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000011	T	0.31104	0.0786	L	0.33093	0.98	0.23371	N	0.997816	B;B	0.31485	0.325;0.124	B;B	0.17722	0.019;0.006	T	0.18618	-1.0331	10	0.72032	D	0.01	.	8.387	0.32505	0.375:0.0:0.625:0.0	.	117;117	Q9BRS0;Q9UBS0	.;KS6B2_HUMAN	Q	117	ENSP00000442949:R117Q;ENSP00000308413:R117Q	ENSP00000308413:R117Q	R	+	2	0	RPS6KB2	66955455	0.967000	0.33354	0.307000	0.25127	0.996000	0.88848	1.518000	0.35877	0.310000	0.22990	0.563000	0.77884	CGG		0.527	RPS6KB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395508.1	NM_003952		15	28	0	0	0	1	0	15	28				
DRD5	1816	broad.mit.edu	37	4	9783962	9783962	+	Silent	SNP	G	G	T			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr4:9783962G>T	ENST00000304374.2	+	1	705	c.309G>T	c.(307-309)gtG>gtT	p.V103V		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	103					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.V103V(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)	TCGCCGAGGTGGCCGGTTACT	0.612																																						ENST00000304374.2																			1	Substitution - coding silent(1)	p.V103V(1)	kidney(1)	NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(307-309)gtG>gtT		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						51.0	49.0	49.0					4																	9783962		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.chr4:9783962G>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.309G>T	4.37:g.9783962G>T							p.V103V	NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN			1	705	+			103					B2R9S3|Q8NEQ8	Silent	SNP	ENST00000304374.2	37	c.309G>T	CCDS3405.1																																																																																				0.612	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			3	34	1	0	3.59834e-05	1	3.8465e-05	3	34				
ZEB2	9839	broad.mit.edu	37	2	145147439	145147439	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr2:145147439T>C	ENST00000558170.2	-	10	4408	c.3224A>G	c.(3223-3225)aAt>aGt	p.N1075S	ZEB2_ENST00000409487.3_Missense_Mutation_p.N1075S|ZEB2_ENST00000303660.4_Missense_Mutation_p.N1075S|ZEB2_ENST00000539609.3_Missense_Mutation_p.N1051S	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1075					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		ATACCTGTGATTCATGTGCTG	0.597																																					Melanoma(33;1235 1264 5755 16332)	ENST00000558170.2																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107						c.(3223-3225)aAt>aGt		zinc finger E-box binding homeobox 2							57.0	55.0	56.0					2																	145147439		2203	4300	6503	SO:0001583	missense	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145147439T>C	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.3224A>G	2.37:g.145147439T>C	ENSP00000454157:p.Asn1075Ser					ZEB2_ENST00000539609.3_Missense_Mutation_p.N1051S|ZEB2_ENST00000409487.3_Missense_Mutation_p.N1075S|ZEB2_ENST00000303660.4_Missense_Mutation_p.N1075S	p.N1075S	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	10	4408	-			1075					A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	c.3224A>G	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.883154	0.91740	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	T;T;T	0.07327	3.2;3.2;3.2	5.51	5.51	0.81932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.29256	0.0728	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	1.0;0.993;0.993	D;D;D	0.87578	0.998;0.956;0.956	T	0.01252	-1.1405	10	0.72032	D	0.01	-15.4173	15.9314	0.79663	0.0:0.0:0.0:1.0	.	1051;1074;1075	F5H814;A0JP08;O60315	.;.;ZEB2_HUMAN	S	1051;1075;1075	ENSP00000443792:N1051S;ENSP00000302501:N1075S;ENSP00000386854:N1075S	ENSP00000302501:N1075S	N	-	2	0	ZEB2	144863909	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.217000	0.71921	0.482000	0.46254	AAT		0.597	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		31	41	0	0	0	1	0	31	41				
KRT27	342574	broad.mit.edu	37	17	38935997	38935997	+	Silent	SNP	G	G	A	rs139309635	byFrequency	TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr17:38935997G>A	ENST00000301656.3	-	4	841	c.801C>T	c.(799-801)ctC>ctT	p.L267L	KRT27_ENST00000540723.1_5'Flank	NM_181537.3	NP_853515.2			keratin 27											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				TCTGCTCTGCGAGGGCTTCGT	0.642													G|||	2	0.000399361	0.0015	0.0	5008	,	,		16221	0.0		0.0	False		,,,				2504	0.0					ENST00000301656.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21						c.(799-801)ctC>ctT		keratin 27		G		37,4369	40.8+/-73.8	0,37,2166	42.0	42.0	42.0		801	-7.2	0.4	17	dbSNP_134	42	0,8600		0,0,4300	no	coding-synonymous	KRT27	NM_181537.3		0,37,6466	AA,AG,GG		0.0,0.8398,0.2845		267/460	38935997	37,12969	2203	4300	6503	SO:0001819	synonymous_variant	342574					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38935997G>A	AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30841	protein-coding gene	gene with protein product			"""keratin 25C"""	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.801C>T	17.37:g.38935997G>A							p.L267L	NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN			4	841	-		Breast(137;0.000812)	267			Coil 2.|Rod.			Silent	SNP	ENST00000301656.3	37	c.801C>T	CCDS11375.1																																																																																				0.642	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257216.1	NM_181537		11	15	0	0	0	1	0	11	15				
MT1A	4489	broad.mit.edu	37	16	56669854	56669854	+	5'Flank	SNP	C	C	T			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr16:56669854C>T	ENST00000290705.8	+	0	0				MT1JP_ENST00000564564.1_RNA	NM_005946.2	NP_005937.2	P04731	MT1A_HUMAN	metallothionein 1A						cellular response to cadmium ion (GO:0071276)|cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(1)	3					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	AAGTTCTGAGCGGAAGGGGAC	0.547																																						ENST00000564564.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr16:56669854C>T	BC029475	CCDS32454.1	16q13	2012-10-02	2007-03-02			ENSG00000205362		"""Metallothioneins"""	7393	protein-coding gene	gene with protein product		156350	"""metallothionein 1S"""	MT1, MT1S		6089206, 6327055	Standard	NM_005946		Approved		uc002ejq.3	P04731			16.37:g.56669854C>T	Exception_encountered													0	180	+								Q86YX5	RNA	SNP	ENST00000290705.8	37		CCDS32454.1																																																																																				0.547	MT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434324.1	NM_005946		8	9	0	0	0	1	0	8	9				
MAN1B1	11253	broad.mit.edu	37	9	139995994	139995994	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr9:139995994C>T	ENST00000371589.4	+	8	1197	c.1124C>T	c.(1123-1125)tCg>tTg	p.S375L	MAN1B1_ENST00000474902.1_Missense_Mutation_p.S78L	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	375					cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		ATTCCTTACTCGGATGTGAAC	0.552																																						ENST00000371589.4																			0				autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14						c.(1123-1125)tCg>tTg		mannosidase, alpha, class 1B, member 1							94.0	80.0	85.0					9																	139995994		2203	4300	6503	SO:0001583	missense	11253				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr9:139995994C>T	AF145732	CCDS7029.1	9q34.3	2014-05-27			ENSG00000177239	ENSG00000177239			6823	protein-coding gene	gene with protein product	"""endoplasmic reticulum alpha-mannosidase 1"", ""alpha 1,2-mannosidase"", ""endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1"", ""ER alpha 1,2-mannosidase"", ""Man9GlcNAc2-specific processing alpha-mannosidase"""	604346				10409699, 10521544	Standard	NM_016219		Approved	MANA-ER, MRT15	uc004cld.3	Q9UKM7	OTTHUMG00000020978	ENST00000371589.4:c.1124C>T	9.37:g.139995994C>T	ENSP00000360645:p.Ser375Leu					MAN1B1_ENST00000474902.1_Missense_Mutation_p.S78L	p.S375L	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)	8	1197	+	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	375					Q5VSG3|Q9BRS9|Q9Y5K7	Missense_Mutation	SNP	ENST00000371589.4	37	c.1124C>T	CCDS7029.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.134915	0.77662	.	.	ENSG00000177239	ENST00000371589;ENST00000474902	T;T	0.71934	-0.61;-0.61	5.38	5.38	0.77491	.	0.000000	0.64402	U	0.000003	D	0.83543	0.5277	M	0.72353	2.195	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.992;0.998;0.988;1.0	T	0.83353	-0.0002	9	.	.	.	-7.0627	18.0998	0.89503	0.0:1.0:0.0:0.0	.	276;339;375;276	B4DPS9;B4DR05;Q9UKM7;Q68D80	.;.;MA1B1_HUMAN;.	L	375;78	ENSP00000360645:S375L;ENSP00000447256:S78L	.	S	+	2	0	MAN1B1	139115815	1.000000	0.71417	0.421000	0.26609	0.148000	0.21650	7.507000	0.81676	2.510000	0.84645	0.561000	0.74099	TCG		0.552	MAN1B1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055294.2	NM_016219		29	65	0	0	0	1	0	29	65				
GAL3ST4	79690	broad.mit.edu	37	7	99757654	99757654	+	Missense_Mutation	SNP	C	C	T	rs144461733		TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr7:99757654C>T	ENST00000360039.4	-	4	1750	c.1358G>A	c.(1357-1359)cGc>cAc	p.R453H	GAL3ST4_ENST00000426974.2_Missense_Mutation_p.R391H|GAL3ST4_ENST00000411994.1_3'UTR|GAL3ST4_ENST00000423751.1_3'UTR|C7orf43_ENST00000457641.1_5'Flank|C7orf43_ENST00000498638.1_5'Flank|C7orf43_ENST00000419841.1_5'Flank|C7orf43_ENST00000316937.3_5'Flank|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.R453H	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	453					cell-cell signaling (GO:0007267)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGTAGCTAGGCGCTCACATTC	0.567																																						ENST00000360039.4																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(1357-1359)cGc>cAc		galactose-3-O-sulfotransferase 4		C	HIS/ARG	0,4406		0,0,2203	105.0	86.0	92.0		1358	4.1	1.0	7	dbSNP_134	92	2,8598	2.2+/-6.3	0,2,4298	yes	missense	GAL3ST4	NM_024637.4	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	453/487	99757654	2,13004	2203	4300	6503	SO:0001583	missense	79690				cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	g.chr7:99757654C>T	AF316113	CCDS5688.1	7q22.1	2007-04-02			ENSG00000197093	ENSG00000197093		"""Sulfotransferases, membrane-bound"""	24145	protein-coding gene	gene with protein product		608235				11333265	Standard	NM_024637		Approved	FLJ12116	uc003utu.3	Q96RP7	OTTHUMG00000154885	ENST00000360039.4:c.1358G>A	7.37:g.99757654C>T	ENSP00000353142:p.Arg453His					GAL3ST4_ENST00000411994.1_3'UTR|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.R453H|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.R391H|GAL3ST4_ENST00000423751.1_3'UTR	p.R453H	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN			4	1750	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		453					A4D2A8|B4DWL8|D6W5U5|Q8N3P7|Q8WZ17|Q96E33|Q9HA78	Missense_Mutation	SNP	ENST00000360039.4	37	c.1358G>A	CCDS5688.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.788178	0.70337	0.0	2.33E-4	ENSG00000197093	ENST00000413800;ENST00000360039;ENST00000426974	T;T;T	0.18960	2.18;2.18;2.18	5.92	4.08	0.47627	.	0.074865	0.52532	U	0.000080	T	0.34803	0.0910	M	0.62723	1.935	0.44104	D	0.996872	D;D	0.89917	1.0;1.0	D;D	0.74674	0.971;0.984	T	0.15780	-1.0425	10	0.27785	T	0.31	-10.3595	4.8682	0.13618	0.1798:0.6608:0.0:0.1595	.	391;453	B4DWL8;Q96RP7	.;G3ST4_HUMAN	H	453;453;391	ENSP00000400451:R453H;ENSP00000353142:R453H;ENSP00000398304:R391H	ENSP00000353142:R453H	R	-	2	0	GAL3ST4	99595590	0.960000	0.32886	1.000000	0.80357	0.790000	0.44656	1.712000	0.37940	1.465000	0.48006	0.561000	0.74099	CGC		0.567	GAL3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337495.2	NM_024637		21	39	0	0	0	1	0	21	39				
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	byFrequency	TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	41								p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A41T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(121-123)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29625877G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.121G>A	20.37:g.29625877G>A	ENSP00000278882:p.Ala41Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T	p.A41T							5	501	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.121G>A		.	.	.	.	.	.	.	.	.	.	g	8.740	0.918766	0.17982	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62498	0.02	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	.	.	.	0.52099	D	0.999942	B	0.24186	0.099	B	0.27715	0.082	T	0.43956	-0.9359	9	0.33940	T	0.23	.	9.3557	0.38164	0.0:0.0:1.0:0.0	rs7266938;rs7266938	46	F5H5R5	.	T	41;46;41	ENSP00000408863:A46T	ENSP00000278882:A41T	A	+	1	0	FRG1B	28239538	1.000000	0.71417	0.993000	0.49108	0.033000	0.12548	5.232000	0.65332	1.250000	0.43966	0.184000	0.17185	GCC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		9	71	0	0	0	1	0	9	71				
ITIH2	3698	broad.mit.edu	37	10	7763669	7763669	+	Missense_Mutation	SNP	G	G	A	rs147906523	byFrequency	TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr10:7763669G>A	ENST00000358415.4	+	8	962	c.796G>A	c.(796-798)Gag>Aag	p.E266K	ITIH2_ENST00000379587.4_Missense_Mutation_p.E255K	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	266					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)			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						TAACTGCCGGGAGACTGCGGT	0.557																																						ENST00000358415.4																			0				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.(796-798)Gag>Aag		inter-alpha-trypsin inhibitor heavy chain 2							174.0	156.0	162.0					10																	7763669		2203	4300	6503	SO:0001583	missense	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7763669G>A	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.796G>A	10.37:g.7763669G>A	ENSP00000351190:p.Glu266Lys					ITIH2_ENST00000379587.4_Missense_Mutation_p.E255K	p.E266K	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN			8	962	+			266					Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	c.796G>A	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	G	6.004	0.369061	0.11352	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	T;T	0.78003	-1.14;-1.14	5.29	4.33	0.51752	.	0.433307	0.27846	N	0.017614	T	0.65344	0.2682	L	0.46885	1.475	0.36831	D	0.886915	B	0.31054	0.306	B	0.30646	0.118	T	0.65479	-0.6158	10	0.30854	T	0.27	-34.3609	3.6507	0.08202	0.0876:0.1361:0.5594:0.217	.	266	P19823	ITIH2_HUMAN	K	266;255	ENSP00000351190:E266K;ENSP00000368906:E255K	ENSP00000351190:E266K	E	+	1	0	ITIH2	7803675	0.990000	0.36364	0.883000	0.34634	0.056000	0.15407	2.057000	0.41365	2.470000	0.83445	0.462000	0.41574	GAG		0.557	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		20	74	0	0	0	1	0	20	74				
CD2	914	broad.mit.edu	37	1	117303203	117303203	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr1:117303203G>T	ENST00000369478.3	+	3	670	c.562G>T	c.(562-564)Gca>Tca	p.A188S		NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	188	Ig-like C2-type.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|membrane raft polarization (GO:0001766)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of myeloid dendritic cell activation (GO:0030887)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of T cell differentiation (GO:0045580)|single organismal cell-cell adhesion (GO:0016337)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	CAAGTGCACAGCAGGGAACAA	0.507																																					NSCLC(14;263 555 26380 43512 51332)	ENST00000369478.3																			0				NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18						c.(562-564)Gca>Tca		CD2 molecule	Alefacept(DB00092)						103.0	92.0	96.0					1																	117303203		2203	4300	6503	SO:0001583	missense	914				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity	g.chr1:117303203G>T	BC033583	CCDS889.1	1p13	2013-01-11	2006-03-28		ENSG00000116824	ENSG00000116824		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1639	protein-coding gene	gene with protein product		186990	"""CD2 antigen (p50), sheep red blood cell receptor"""	SRBC		2437578	Standard	NM_001767		Approved		uc001egu.4	P06729	OTTHUMG00000022750	ENST00000369478.3:c.562G>T	1.37:g.117303203G>T	ENSP00000358490:p.Ala188Ser						p.A188S	NM_001767.3	NP_001758.2	P06729	CD2_HUMAN		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	3	670	+	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)	188			Ig-like C2-type.		Q96TE5	Missense_Mutation	SNP	ENST00000369478.3	37	c.562G>T	CCDS889.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.197971	0.58126	.	.	ENSG00000116824	ENST00000369478	T	0.33654	1.4	5.13	4.21	0.49690	Immunoglobulin C2-set (1);Immunoglobulin-like fold (1);	0.146941	0.46145	D	0.000315	T	0.40322	0.1112	L	0.54323	1.7	0.27403	N	0.954802	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.24584	-1.0156	10	0.72032	D	0.01	-27.3579	11.1592	0.48505	0.0:0.0:0.8162:0.1838	.	188;188	B4DVN2;P06729	.;CD2_HUMAN	S	188	ENSP00000358490:A188S	ENSP00000358490:A188S	A	+	1	0	CD2	117104726	0.034000	0.19679	0.064000	0.19789	0.003000	0.03518	1.700000	0.37815	1.513000	0.48852	0.655000	0.94253	GCA		0.507	CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059039.2	NM_001767		3	43	1	0	0.00024832	1	0.000256597	3	43				
PRDM9	56979	broad.mit.edu	37	5	23522743	23522743	+	Missense_Mutation	SNP	T	T	G			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr5:23522743T>G	ENST00000296682.3	+	8	813	c.631T>G	c.(631-633)Ttc>Gtc	p.F211V		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	211					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GTGTCAGAACTTCTTCATTGA	0.498										HNSCC(3;0.000094)																												ENST00000296682.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(631-633)Ttc>Gtc		PR domain containing 9							50.0	49.0	50.0					5																	23522743		2203	4300	6503	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23522743T>G	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.631T>G	5.37:g.23522743T>G	ENSP00000296682:p.Phe211Val	HNSCC(3;0.000094)					p.F211V	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			8	813	+			211					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.631T>G	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	T	17.40	3.379751	0.61845	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.41065	1.01	4.28	4.28	0.50868	.	0.000000	0.35772	N	0.003000	T	0.45034	0.1322	M	0.72894	2.215	0.33299	D	0.564575	P	0.47762	0.9	P	0.44518	0.452	T	0.64782	-0.6326	10	0.66056	D	0.02	-17.8803	10.1238	0.42637	0.0:0.0:0.0:1.0	.	211	Q9NQV7	PRDM9_HUMAN	V	211;5	ENSP00000296682:F211V	ENSP00000253473:F5V	F	+	1	0	PRDM9	23558500	0.932000	0.31603	0.991000	0.47740	0.824000	0.46624	1.552000	0.36244	1.700000	0.51204	0.487000	0.48397	TTC		0.498	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		6	28	0	0	0	1	0	6	28				
MKLN1	4289	broad.mit.edu	37	7	131012753	131012753	+	Missense_Mutation	SNP	C	C	G			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr7:131012753C>G	ENST00000352689.6	+	1	135	c.95C>G	c.(94-96)cCc>cGc	p.P32R	MKLN1_ENST00000421797.2_Intron|MKLN1-AS2_ENST00000416220.1_RNA|MKLN1-AS2_ENST00000454515.1_RNA|MKLN1_ENST00000429546.1_Intron|MKLN1-AS2_ENST00000429067.1_RNA	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	32					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					ACCTACCTTCCCGAGTAAGTG	0.677																																						ENST00000352689.6																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(94-96)cCc>cGc		muskelin 1, intracellular mediator containing kelch motifs							41.0	38.0	39.0					7																	131012753		2203	4300	6503	SO:0001583	missense	4289				signal transduction	cytoplasm	protein binding	g.chr7:131012753C>G	AF047489	CCDS34754.1	7q32	2008-07-18			ENSG00000128585	ENSG00000128585			7109	protein-coding gene	gene with protein product		605623				10640805	Standard	NM_001145354		Approved	TWA2	uc011kpm.2	Q9UL63	OTTHUMG00000154880	ENST00000352689.6:c.95C>G	7.37:g.131012753C>G	ENSP00000323527:p.Pro32Arg					MKLN1_ENST00000429546.1_Intron|MKLN1_ENST00000421797.2_Intron	p.P32R	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN			1	135	+	Melanoma(18;0.162)		32					A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Missense_Mutation	SNP	ENST00000352689.6	37	c.95C>G	CCDS34754.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937235	0.73557	.	.	ENSG00000128585	ENST00000352689	D	0.98777	-5.13	4.22	3.26	0.37387	Muskelin, N-terminal (1);Galactose-binding domain-like (1);	0.105524	0.64402	D	0.000003	D	0.98893	0.9625	M	0.84846	2.72	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.98771	1.0728	10	0.87932	D	0	-4.2542	8.7533	0.34631	0.2253:0.7747:0.0:0.0	.	32	Q9UL63	MKLN1_HUMAN	R	32	ENSP00000323527:P32R	ENSP00000323527:P32R	P	+	2	0	MKLN1	130663293	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	2.126000	0.42026	2.079000	0.62486	0.561000	0.74099	CCC		0.677	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337473.4	NM_013255		6	19	0	0	0	1	0	6	19				
TTBK1	84630	broad.mit.edu	37	6	43225665	43225665	+	Missense_Mutation	SNP	C	C	T	rs201995632		TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr6:43225665C>T	ENST00000259750.4	+	10	1060	c.977C>T	c.(976-978)cCg>cTg	p.P326L	TTBK1_ENST00000304139.5_Missense_Mutation_p.P275L	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	326					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			ACCTCTACCCCGCCCCAGCAG	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		16023	0.001		0.0	False		,,,				2504	0.0					ENST00000259750.4																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(976-978)cCg>cTg		tau tubulin kinase 1							70.0	65.0	67.0					6																	43225665		2203	4300	6503	SO:0001583	missense	84630					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:43225665C>T	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.977C>T	6.37:g.43225665C>T	ENSP00000259750:p.Pro326Leu					TTBK1_ENST00000304139.5_Missense_Mutation_p.P275L	p.P326L	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)		10	1060	+			326					A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	c.977C>T	CCDS34455.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	22.7	4.328579	0.81690	.	.	ENSG00000146216	ENST00000393984;ENST00000259750;ENST00000304139	T	0.52295	0.67	5.35	5.35	0.76521	.	0.108803	0.64402	D	0.000006	T	0.37865	0.1019	L	0.36672	1.1	0.58432	D	0.999997	D	0.63046	0.992	P	0.48063	0.565	T	0.34725	-0.9817	10	0.66056	D	0.02	.	17.8402	0.88713	0.0:1.0:0.0:0.0	.	326	Q5TCY1	TTBK1_HUMAN	L	275;326;275	ENSP00000259750:P326L	ENSP00000259750:P326L	P	+	2	0	TTBK1	43333643	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	4.896000	0.63222	2.526000	0.85167	0.561000	0.74099	CCG		0.617	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			14	42	0	0	0	1	0	14	42				
ASTN1	460	broad.mit.edu	37	1	177001904	177001904	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr1:177001904G>A	ENST00000367654.3	-	3	764	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W	ASTN1_ENST00000424564.2_Missense_Mutation_p.R185W|ASTN1_ENST00000367657.3_Missense_Mutation_p.R185W|ASTN1_ENST00000361833.2_Missense_Mutation_p.R185W|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	185					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGCGGGACCCGGCGGCGTTTG	0.612																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(553-555)Cgg>Tgg		astrotactin 1							38.0	39.0	39.0					1																	177001904		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:177001904G>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.553C>T	1.37:g.177001904G>A	ENSP00000356626:p.Arg185Trp					ASTN1_ENST00000367657.3_Missense_Mutation_p.R185W|ASTN1_ENST00000424564.2_Missense_Mutation_p.R185W|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.R185W	p.R185W			O14525	ASTN1_HUMAN			3	566	-			185					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.553C>T		.	.	.	.	.	.	.	.	.	.	G	22.9	4.343933	0.82022	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.25749	1.78;2.19;2.19;1.79	5.52	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.44095	0.1277	L	0.43152	1.355	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.996;0.996	T	0.42189	-0.9466	10	0.87932	D	0	-12.585	15.4989	0.75680	0.0:0.0:0.8603:0.1397	.	185;185;185	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	W	185	ENSP00000356629:R185W;ENSP00000354536:R185W;ENSP00000356626:R185W;ENSP00000395041:R185W	ENSP00000354536:R185W	R	-	1	2	ASTN1	175268527	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	6.614000	0.74197	1.305000	0.44909	-0.152000	0.13540	CGG		0.612	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		7	38	0	0	0	1	0	7	38				
SPTB	6710	broad.mit.edu	37	14	65253586	65253586	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr14:65253586C>A	ENST00000389721.5	-	15	3129	c.3097G>T	c.(3097-3099)Ggt>Tgt	p.G1033C	SPTB_ENST00000389722.3_Missense_Mutation_p.G1033C|SPTB_ENST00000556626.1_Missense_Mutation_p.G1033C|SPTB_ENST00000542895.1_Missense_Mutation_p.G1033C|SPTB_ENST00000389720.3_Missense_Mutation_p.G1033C	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1033					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGCCGCTGACCAATATCCTCC	0.637																																						ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(3097-3099)Ggt>Tgt		spectrin, beta, erythrocytic							75.0	78.0	77.0					14																	65253586		2203	4300	6503	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65253586C>A		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.3097G>T	14.37:g.65253586C>A	ENSP00000374371:p.Gly1033Cys					SPTB_ENST00000556626.1_Missense_Mutation_p.G1033C|SPTB_ENST00000389721.5_Missense_Mutation_p.G1033C|SPTB_ENST00000542895.1_Missense_Mutation_p.G1033C|SPTB_ENST00000389720.3_Missense_Mutation_p.G1033C	p.G1033C	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	15	3150	-		all_lung(585;4.15e-09)	1033					Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.3097G>T	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	C	7.947	0.744125	0.15710	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69	4.89	0.823	0.18812	.	0.801532	0.11534	N	0.554403	T	0.39145	0.1067	N	0.19112	0.55	0.09310	N	0.999995	P;P	0.39216	0.491;0.664	P;P	0.52627	0.704;0.586	T	0.29610	-1.0006	10	0.38643	T	0.18	.	1.0637	0.01606	0.15:0.376:0.1461:0.3279	.	1033;1037	P11277;Q59FP5	SPTB1_HUMAN;.	C	1037;1033;1033;1033;1033;1033	ENSP00000374372:G1033C;ENSP00000451752:G1033C;ENSP00000374371:G1033C;ENSP00000443882:G1033C;ENSP00000374370:G1033C	ENSP00000374370:G1033C	G	-	1	0	SPTB	64323339	0.000000	0.05858	0.450000	0.26969	0.229000	0.25112	-0.769000	0.04710	0.190000	0.20209	-0.311000	0.09066	GGT		0.637	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			17	54	1	0	6.49762e-13	1	7.46023e-13	17	54				
RYR2	6262	broad.mit.edu	37	1	237947648	237947648	+	Silent	SNP	C	C	T			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr1:237947648C>T	ENST00000366574.2	+	90	12953	c.12636C>T	c.(12634-12636)aaC>aaT	p.N4212N	RYR2_ENST00000360064.6_Silent_p.N4218N|RYR2_ENST00000542537.1_Silent_p.N4196N|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4212					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CGGACTTGAACGAGAGGTCAG	0.542																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(12634-12636)aaC>aaT		ryanodine receptor 2 (cardiac)							71.0	76.0	75.0					1																	237947648		2011	4187	6198	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237947648C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12636C>T	1.37:g.237947648C>T						RYR2_ENST00000360064.6_Silent_p.N4218N|RYR2_ENST00000542537.1_Silent_p.N4196N	p.N4212N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	12953	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4212					Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.12636C>T	CCDS55691.1																																																																																				0.542	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		22	38	0	0	0	1	0	22	38				
ATG4B	23192	broad.mit.edu	37	2	242607594	242607594	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr2:242607594G>A	ENST00000404914.3	+	9	872	c.769G>A	c.(769-771)Gga>Aga	p.G257R	ATG4B_ENST00000402096.1_Missense_Mutation_p.G183R|ATG4B_ENST00000396411.3_Missense_Mutation_p.G183R|ATG4B_ENST00000405546.3_Missense_Mutation_p.G257R|ATG4B_ENST00000474739.2_Missense_Mutation_p.G243R	NM_013325.4|NM_178326.2	NP_037457.3|NP_847896.1	Q9Y4P1	ATG4B_HUMAN	autophagy related 4B, cysteine peptidase	257					autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|positive regulation of autophagy (GO:0010508)|positive regulation of protein catabolic process (GO:0045732)|protein transport (GO:0015031)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	cysteine-type peptidase activity (GO:0008234)|endopeptidase activity (GO:0004175)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)		GGGCGTCATCGGAGGGAAGCC	0.642																																					Melanoma(78;458 1323 6342 12171 39523)	ENST00000405546.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(769-771)Gga>Aga		autophagy related 4B, cysteine peptidase							53.0	64.0	61.0					2																	242607594		2013	4142	6155	SO:0001583	missense	23192				autophagic vacuole assembly|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity|protein binding	g.chr2:242607594G>A	AB023160	CCDS46564.1, CCDS46565.1	2q37.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000168397	ENSG00000168397			20790	protein-coding gene	gene with protein product		611338	"""APG4 autophagy 4 homolog B (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog B (S. cerevisiae)"""	APG4B		12446702	Standard	NM_013325		Approved	Apg4B, KIAA0943, DKFZp586D1822, AUTL1	uc002wbv.3	Q9Y4P1	OTTHUMG00000151514	ENST00000404914.3:c.769G>A	2.37:g.242607594G>A	ENSP00000384259:p.Gly257Arg					ATG4B_ENST00000474739.2_Missense_Mutation_p.G243R|ATG4B_ENST00000396411.3_Missense_Mutation_p.G183R|ATG4B_ENST00000404914.3_Missense_Mutation_p.G257R|ATG4B_ENST00000402096.1_Missense_Mutation_p.G183R	p.G257R			Q9Y4P1	ATG4B_HUMAN		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)	9	1271	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	257					B7WNK2|Q53NU4|Q6ZUV8|Q8WYM9|Q96K07|Q96K96|Q96SZ1|Q9Y2F2	Missense_Mutation	SNP	ENST00000404914.3	37	c.769G>A	CCDS46564.1	.	.	.	.	.	.	.	.	.	.	G	33	5.284732	0.95517	.	.	ENSG00000168397	ENST00000405546;ENST00000337606;ENST00000402096;ENST00000404914;ENST00000474739;ENST00000396411;ENST00000400771;ENST00000311517;ENST00000428861	T;T;T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.89417	0.6709	H	0.98089	4.145	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;0.999;0.999;0.999	D	0.92997	0.6420	10	0.87932	D	0	-14.5803	19.5533	0.95330	0.0:0.0:1.0:0.0	.	243;374;345;257;183	F5H7P2;B4DZK0;Q9Y4P1-2;Q9Y4P1;Q9Y4P1-4	.;.;.;ATG4B_HUMAN;.	R	257;374;183;257;243;183;206;183;94	ENSP00000383964:G257R;ENSP00000384661:G183R;ENSP00000384259:G257R;ENSP00000442378:G243R;ENSP00000379692:G183R;ENSP00000383582:G206R;ENSP00000404783:G94R	ENSP00000309348:G183R	G	+	1	0	ATG4B	242256267	1.000000	0.71417	0.989000	0.46669	0.933000	0.57130	8.793000	0.91862	2.639000	0.89480	0.491000	0.48974	GGA		0.642	ATG4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322967.3	NM_013325		4	16	0	0	0	1	0	4	16				
TTC3	7267	broad.mit.edu	37	21	38564418	38564418	+	Missense_Mutation	SNP	G	G	C			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr21:38564418G>C	ENST00000399017.2	+	41	7868	c.5121G>C	c.(5119-5121)caG>caC	p.Q1707H	TTC3-AS1_ENST00000424733.1_RNA|TTC3_ENST00000355666.1_Missense_Mutation_p.Q1707H|TTC3_ENST00000354749.2_Missense_Mutation_p.Q1707H|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1707					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CACAGTCTCAGTTTGAAGAAC	0.348																																					Ovarian(38;194 1649 35661)	ENST00000399017.2																			0				breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75						c.(5119-5121)caG>caC		tetratricopeptide repeat domain 3							61.0	59.0	60.0					21																	38564418		2202	4299	6501	SO:0001583	missense	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38564418G>C	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.5121G>C	21.37:g.38564418G>C	ENSP00000381981:p.Gln1707His					TTC3-AS1_ENST00000424733.1_RNA|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.Q1707H|TTC3_ENST00000354749.2_Missense_Mutation_p.Q1707H	p.Q1707H	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN			41	7868	+		Myeloproliferative disorder(46;0.0412)	1707					A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	c.5121G>C	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.925879	0.34002	.	.	ENSG00000182670	ENST00000355666;ENST00000399017;ENST00000354749	T;T;T	0.12147	2.71;2.71;2.71	5.09	1.16	0.20824	.	0.564275	0.17146	N	0.185257	T	0.14184	0.0343	M	0.68952	2.095	0.80722	D	1	B	0.31227	0.314	B	0.32149	0.141	T	0.04650	-1.0936	10	0.72032	D	0.01	-3.7799	5.0091	0.14302	0.2616:0.1512:0.5872:0.0	.	1707	P53804	TTC3_HUMAN	H	1707	ENSP00000347889:Q1707H;ENSP00000381981:Q1707H;ENSP00000346791:Q1707H	ENSP00000346791:Q1707H	Q	+	3	2	TTC3	37486288	0.371000	0.25056	0.924000	0.36721	0.733000	0.41908	0.155000	0.16362	-0.001000	0.14495	-0.224000	0.12420	CAG		0.348	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			9	48	0	0	0	1	0	9	48				
SLC51A	200931	broad.mit.edu	37	3	195953981	195953981	+	Silent	SNP	G	G	A			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr3:195953981G>A	ENST00000296327.5	+	3	488	c.279G>A	c.(277-279)tcG>tcA	p.S93S		NM_152672.5	NP_689885.4	Q86UW1	OSTA_HUMAN	solute carrier family 51, alpha subunit	93					bile acid and bile salt transport (GO:0015721)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)									Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)	GGAAGAGCTCGGCACCCACGG	0.597																																						ENST00000296327.5																			0											c.(277-279)tcG>tcA		solute carrier family 51, alpha subunit							68.0	64.0	65.0					3																	195953981		2203	4300	6503	SO:0001819	synonymous_variant	200931							g.chr3:195953981G>A		CCDS3314.1	3q29	2013-05-22			ENSG00000163959	ENSG00000163959		"""Solute carriers"""	29955	protein-coding gene	gene with protein product	"""organic solute transporter, alpha subunit"""	612084				12719432, 20538072	Standard	NM_152672		Approved	OSTalpha	uc003fwd.3	Q86UW1	OTTHUMG00000155684	ENST00000296327.5:c.279G>A	3.37:g.195953981G>A							p.S93S	NM_152672.5	NP_689885.4					3	488	+								Q6ZMC7	Silent	SNP	ENST00000296327.5	37	c.279G>A	CCDS3314.1	.	.	.	.	.	.	.	.	.	.	G	1.438	-0.568465	0.03910	.	.	ENSG00000163959	ENST00000428985	.	.	.	5.86	2.2	0.27929	.	.	.	.	.	T	0.43634	0.1256	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26608	-1.0098	4	.	.	.	.	1.9962	0.03457	0.3833:0.0751:0.1328:0.4088	.	.	.	.	Q	64	.	.	R	+	2	0	AC069257.9	197438378	0.977000	0.34250	1.000000	0.80357	0.090000	0.18270	-0.085000	0.11250	0.474000	0.27392	-1.631000	0.00782	CGG		0.597	SLC51A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341253.1	NM_152672		5	63	0	0	0	1	0	5	63				
ADAM21P1	145241	broad.mit.edu	37	14	70714027	70714027	+	RNA	SNP	A	A	T	rs71448314|rs28562608	byFrequency	TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr14:70714027A>T	ENST00000530196.1	-	0	491					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		ACTCAGGGGCACCCTCCACGT	0.493													C|||	1835	0.366414	0.2617	0.5216	5008	,	,		21101	0.1647		0.5099	False		,,,				2504	0.4581					ENST00000530196.1																			0																																																			0							g.chr14:70714027A>T			14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70714027A>T								NR_003951.1						0	491	-									RNA	SNP	ENST00000530196.1	37																																																																																						0.493	ADAM21P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390451.1	NG_002467		5	123	0	0	0	1	0	5	123				
LRRC37A4P	55073	broad.mit.edu	37	17	43587730	43587730	+	RNA	SNP	A	A	C			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr17:43587730A>C	ENST00000579913.1	-	0	1394				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GTATTGATTCATTTTATTCAT	0.343																																						ENST00000253803.2																			0																																																			0							g.chr17:43587730A>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587730A>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.343	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	25	0	0	0	1	0	3	25				
AFM	173	broad.mit.edu	37	4	74365745	74365745	+	Missense_Mutation	SNP	T	T	C	rs373381900		TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr4:74365745T>C	ENST00000226355.3	+	12	1540	c.1447T>C	c.(1447-1449)Tgt>Cgt	p.C483R		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	483	Albumin 3. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGGAGAGTTATGTGGAGTAAA	0.378																																						ENST00000226355.3																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(1447-1449)Tgt>Cgt		afamin							132.0	133.0	133.0					4																	74365745		2203	4300	6503	SO:0001583	missense	173				vitamin transport		vitamin E binding	g.chr4:74365745T>C	L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.1447T>C	4.37:g.74365745T>C	ENSP00000226355:p.Cys483Arg						p.C483R	NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		12	1540	+	Breast(15;0.00102)		483			Albumin 3.		A8K3E1|Q32MR3|Q4W5C5	Missense_Mutation	SNP	ENST00000226355.3	37	c.1447T>C	CCDS3557.1	.	.	.	.	.	.	.	.	.	.	T	15.75	2.925869	0.52759	.	.	ENSG00000079557	ENST00000226355	D	0.96685	-4.09	5.51	4.33	0.51752	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.97838	0.9290	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97502	1.0061	10	0.87932	D	0	.	8.1611	0.31198	0.0:0.0914:0.0:0.9085	.	483	P43652	AFAM_HUMAN	R	483	ENSP00000226355:C483R	ENSP00000226355:C483R	C	+	1	0	AFM	74584609	1.000000	0.71417	0.348000	0.25681	0.767000	0.43475	4.010000	0.57117	0.925000	0.37094	0.460000	0.39030	TGT		0.378	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2			25	53	0	0	0	1	0	25	53				
NET1	10276	broad.mit.edu	37	10	5498782	5498782	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr10:5498782C>T	ENST00000355029.4	+	12	1758	c.1616C>T	c.(1615-1617)tCc>tTc	p.S539F	NET1_ENST00000380359.3_Missense_Mutation_p.S485F|NET1_ENST00000542715.1_Missense_Mutation_p.S358F	NM_001047160.2	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	539					apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|myoblast migration (GO:0051451)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						AGGAGGGCATCCACAGTTTCC	0.562																																						ENST00000355029.4																			0				breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						c.(1615-1617)tCc>tTc		neuroepithelial cell transforming 1							76.0	69.0	71.0					10																	5498782		2203	4300	6503	SO:0001583	missense	10276				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity	g.chr10:5498782C>T	AJ010046	CCDS7067.1, CCDS41483.1	10p15	2013-01-10	2008-09-12		ENSG00000173848	ENSG00000173848		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14592	protein-coding gene	gene with protein product		606450				8649828	Standard	NR_073040		Approved	ARHGEF8, NET1A	uc001iia.4	Q7Z628	OTTHUMG00000017596	ENST00000355029.4:c.1616C>T	10.37:g.5498782C>T	ENSP00000347134:p.Ser539Phe					NET1_ENST00000542715.1_Missense_Mutation_p.S358F|NET1_ENST00000380359.3_Missense_Mutation_p.S485F	p.S539F	NM_001047160.1	NP_001040625.1	Q7Z628	ARHG8_HUMAN			12	1758	+			539					Q12773|Q96D82|Q99903|Q9UEN6	Missense_Mutation	SNP	ENST00000355029.4	37	c.1616C>T	CCDS41483.1	.	.	.	.	.	.	.	.	.	.	C	9.354	1.066379	0.20067	.	.	ENSG00000173848	ENST00000355029;ENST00000542715;ENST00000380359	T;T;T	0.16457	2.45;2.34;2.52	5.23	4.31	0.51392	.	0.397488	0.18350	N	0.143909	T	0.26484	0.0647	L	0.55481	1.735	0.21386	N	0.999707	P;P	0.49961	0.863;0.93	P;P	0.49502	0.534;0.613	T	0.05649	-1.0872	10	0.56958	D	0.05	-12.5845	14.2331	0.65906	0.0:0.8439:0.1561:0.0	.	485;539	Q5SQI7;Q7Z628	.;ARHG8_HUMAN	F	539;358;485	ENSP00000347134:S539F;ENSP00000446452:S358F;ENSP00000369717:S485F	ENSP00000347134:S539F	S	+	2	0	NET1	5488782	0.500000	0.26091	0.012000	0.15200	0.002000	0.02628	3.648000	0.54410	1.167000	0.42706	0.650000	0.86243	TCC		0.562	NET1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046553.3	NM_005863		18	35	0	0	0	1	0	18	35				
MOG	4340	broad.mit.edu	37	6	29640808	29640808	+	IGR	SNP	G	G	T			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr6:29640808G>T	ENST00000376917.3	+	0	2160				ZFP57_ENST00000376883.1_Silent_p.P340P|ZFP57_ENST00000488757.1_Silent_p.P360P|ZFP57_ENST00000376881.3_Silent_p.P340P	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						TTCCAGTGATGGGTGCCTGGG	0.512																																						ENST00000376883.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						c.(1018-1020)ccC>ccA		ZFP57 zinc finger protein							231.0	247.0	242.0					6																	29640808		1235	2541	3776	SO:0001628	intergenic_variant	346171				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr6:29640808G>T		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099		6.37:g.29640808G>T						ZFP57_ENST00000376881.3_Silent_p.P340P|ZFP57_ENST00000488757.1_Silent_p.P360P	p.P340P			Q9NU63	ZFP57_HUMAN			6	1431	-			276					A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Silent	SNP	ENST00000376917.3	37	c.1020C>A	CCDS34370.1																																																																																				0.512	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		5	187	1	0	0.00116845	1	0.0011876	5	187				
RNF207	388591	broad.mit.edu	37	1	6279431	6279431	+	Silent	SNP	G	G	C			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr1:6279431G>C	ENST00000377939.4	+	18	1996	c.1869G>C	c.(1867-1869)ggG>ggC	p.G623G	RNF207_ENST00000377948.2_3'UTR|ICMT_ENST00000495791.1_5'Flank	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN	ring finger protein 207	623						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		AGAAAAATGGGGGCGATGTCC	0.532																																						ENST00000377939.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16						c.(1867-1869)ggG>ggC		ring finger protein 207							44.0	46.0	45.0					1																	6279431		1879	4105	5984	SO:0001819	synonymous_variant	388591					intracellular	zinc ion binding	g.chr1:6279431G>C	AK128246	CCDS59.2	1p36.31	2008-11-19			ENSG00000158286	ENSG00000158286		"""RING-type (C3HC4) zinc fingers"""	32947	protein-coding gene	gene with protein product	"""OTTHUMG00000001089"""		"""chromosome 1 open reading frame 188"""	C1orf188			Standard	NM_207396		Approved	FLJ46380, FLJ32096	uc001amg.3	Q6ZRF8	OTTHUMG00000001089	ENST00000377939.4:c.1869G>C	1.37:g.6279431G>C						RNF207_ENST00000377948.2_3'UTR	p.G623G	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)	18	1996	+	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)	623					A2VCM8|B4DFR6|Q5TGS6|Q6ZS63|Q96MP2	Silent	SNP	ENST00000377939.4	37	c.1869G>C	CCDS59.2																																																																																				0.532	RNF207-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003669.2	NM_207396		8	19	0	0	0	1	0	8	19				
FAM109B	150368	broad.mit.edu	37	22	42473682	42473682	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr22:42473682C>A	ENST00000321753.3	+	3	572	c.385C>A	c.(385-387)Cgc>Agc	p.R129S	SMDT1_ENST00000331479.3_5'Flank|snoU13_ENST00000458891.1_RNA	NM_001002034.2	NP_001002034.2	Q6ICB4	SESQ2_HUMAN	family with sequence similarity 109, member B	129					endosome organization (GO:0007032)|receptor recycling (GO:0001881)|retrograde transport, endosome to Golgi (GO:0042147)	clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|liver(2)|lung(1)|prostate(1)	8						CCTGGTGGTACGCGAGTTGGA	0.667																																						ENST00000321753.3																			0				endometrium(2)|large_intestine(2)|liver(2)|lung(1)|prostate(1)	8						c.(385-387)Cgc>Agc		family with sequence similarity 109, member B							68.0	67.0	67.0					22																	42473682		2203	4300	6503	SO:0001583	missense	150368				endosome organization|receptor recycling|retrograde transport, endosome to Golgi	clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network	protein homodimerization activity	g.chr22:42473682C>A	BX648402	CCDS33655.1	22q13.2	2013-01-10			ENSG00000177096	ENSG00000177096		"""Pleckstrin homology (PH) domain containing"""	27161	protein-coding gene	gene with protein product		614240				12477932	Standard	NM_001002034		Approved	DKFZp686J07229	uc003bbz.3	Q6ICB4	OTTHUMG00000151285	ENST00000321753.3:c.385C>A	22.37:g.42473682C>A	ENSP00000312753:p.Arg129Ser						p.R129S	NM_001002034.2	NP_001002034.2	Q6ICB4	SESQ2_HUMAN			3	572	+			129					Q3SXQ3|Q8N6L9	Missense_Mutation	SNP	ENST00000321753.3	37	c.385C>A	CCDS33655.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.377406	0.42105	.	.	ENSG00000177096	ENST00000321753	T	0.45276	0.9	4.63	4.63	0.57726	.	0.250315	0.37095	U	0.002250	T	0.30198	0.0757	L	0.39245	1.2	0.24901	N	0.992108	P	0.40302	0.712	B	0.31442	0.13	T	0.29761	-1.0001	10	0.44086	T	0.13	-3.1838	12.3717	0.55258	0.3255:0.6745:0.0:0.0	.	129	Q6ICB4	SESQ2_HUMAN	S	129	ENSP00000312753:R129S	ENSP00000312753:R129S	R	+	1	0	FAM109B	40803628	0.338000	0.24775	0.742000	0.31022	0.248000	0.25809	1.223000	0.32527	2.110000	0.64415	0.655000	0.94253	CGC		0.667	FAM109B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322084.1	NM_001002034		11	44	1	0	4.68919e-08	1	5.1916e-08	11	44				
PKD1	5310	broad.mit.edu	37	16	2160678	2160678	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr16:2160678C>A	ENST00000262304.4	-	15	4698	c.4490G>T	c.(4489-4491)aGc>aTc	p.S1497I	PKD1_ENST00000423118.1_Missense_Mutation_p.S1497I|RP11-304L19.4_ENST00000568795.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1497	PKD 10. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCACAGGTAGCTGGCGGGGCG	0.662																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(4489-4491)aGc>aTc		polycystic kidney disease 1 (autosomal dominant)							20.0	24.0	23.0					16																	2160678		2171	4279	6450	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2160678C>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.4490G>T	16.37:g.2160678C>A	ENSP00000262304:p.Ser1497Ile					PKD1_ENST00000423118.1_Missense_Mutation_p.S1497I	p.S1497I	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			15	4698	-			1497			PKD 10.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.4490G>T	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	c	9.893	1.204689	0.22205	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.65178	-0.14;-0.14	5.54	-0.19	0.13256	PKD/Chitinase domain (1);Polycystin cation channel (1);PKD domain (4);	1.296330	0.04870	N	0.445815	T	0.73666	0.3616	M	0.86097	2.795	0.09310	N	1	P;P	0.43578	0.811;0.589	P;P	0.45610	0.481;0.487	T	0.67799	-0.5577	10	0.66056	D	0.02	.	14.5769	0.68255	0.0:0.699:0.1425:0.1585	.	1497;1497	P98161-3;P98161	.;PKD1_HUMAN	I	1497;1497;1178	ENSP00000262304:S1497I;ENSP00000399501:S1497I	ENSP00000262304:S1497I	S	-	2	0	PKD1	2100679	0.048000	0.20356	0.044000	0.18714	0.007000	0.05969	0.226000	0.17776	-0.205000	0.10219	-0.330000	0.08379	AGC		0.662	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			3	35	1	0	0.115264	1	0.115264	3	35				
MYH1	4619	broad.mit.edu	37	17	10408611	10408611	+	Silent	SNP	A	A	G			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr17:10408611A>G	ENST00000226207.5	-	21	2398	c.2304T>C	c.(2302-2304)ttT>ttC	p.F768F	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	768	Actin-binding. {ECO:0000250}.|Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CAGCTTTGAAAAAGACCTATG	0.458																																						ENST00000226207.5																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(2302-2304)ttT>ttC		myosin, heavy chain 1, skeletal muscle, adult							69.0	72.0	71.0					17																	10408611		2203	4300	6503	SO:0001819	synonymous_variant	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10408611A>G		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.2304T>C	17.37:g.10408611A>G						CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.F768F	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			21	2398	-			768			Actin-binding (By similarity).|Myosin head-like.		Q14CA4|Q9Y622	Silent	SNP	ENST00000226207.5	37	c.2304T>C	CCDS11155.1																																																																																				0.458	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		25	72	0	0	0	1	0	25	72				
IL36RN	26525	broad.mit.edu	37	2	113818430	113818430	+	Splice_Site	SNP	A	A	G			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr2:113818430A>G	ENST00000393200.2	+	3	192	c.31A>G	c.(31-33)Atg>Gtg	p.M11V	IL36RN_ENST00000346807.3_Splice_Site_p.M11V	NM_012275.2	NP_036407.1	Q9UBH0	I36RA_HUMAN	interleukin 36 receptor antagonist	11					antifungal humoral response (GO:0019732)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of interferon-gamma secretion (GO:1902714)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)	extracellular space (GO:0005615)	interleukin-1 receptor antagonist activity (GO:0005152)			large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						ATGTTTCAGAATGAAGGACTC	0.493																																						ENST00000393200.2																			0				large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.e3-1		interleukin 36 receptor antagonist							112.0	97.0	102.0					2																	113818430		2203	4300	6503	SO:0001630	splice_region_variant	26525					extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	g.chr2:113818430A>G	AF201830	CCDS2111.1	2q14	2014-09-17	2011-06-06	2011-06-06	ENSG00000136695	ENSG00000136695		"""Interleukins and interleukin receptors"""	15561	protein-coding gene	gene with protein product	"""family of interleukin 1-delta"", ""interleukin-1 receptor antagonist homolog 1"", ""interleukin-1 HY1"", ""IL-1 related protein 3"""	605507	"""interleukin 1 family, member 5 (delta)"""	IL1F5		10625660, 10512743, 11574262	Standard	NM_012275		Approved	FIL1, FIL1(DELTA), FIL1D, IL1HY1, IL1RP3, IL1L1, IL-1F5, IL36RA, MGC29840	uc002tit.3	Q9UBH0	OTTHUMG00000131337	ENST00000393200.2:c.30-1A>G	2.37:g.113818430A>G						IL36RN_ENST00000346807.3_Splice_Site_p.M11_splice	p.M11_splice	NM_012275.2	NP_036407.1	Q9UBH0	I36RA_HUMAN			3	192	+			11					A8K2I4|Q56AT9|Q7RTZ6	Splice_Site	SNP	ENST00000393200.2	37	c.29_splice	CCDS2111.1	.	.	.	.	.	.	.	.	.	.	A	14.63	2.592477	0.46214	.	.	ENSG00000136695	ENST00000346807;ENST00000393200;ENST00000437409	T;T;T	0.74737	-0.87;-0.87;-0.87	4.9	4.9	0.64082	.	0.222293	0.48767	D	0.000169	T	0.73598	0.3607	N	0.16233	0.39	0.35630	D	0.810108	D	0.59767	0.986	D	0.65573	0.936	T	0.81002	-0.1130	10	0.72032	D	0.01	-22.3206	11.1003	0.48170	1.0:0.0:0.0:0.0	.	11	Q9UBH0	I36RA_HUMAN	V	11	ENSP00000259212:M11V;ENSP00000376896:M11V;ENSP00000409262:M11V	ENSP00000259212:M11V	M	+	1	0	IL36RN	113534901	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.753000	0.55180	2.198000	0.70561	0.533000	0.62120	ATG		0.493	IL36RN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330729.1	NM_173170	Missense_Mutation	17	16	0	0	0	1	0	17	16				
OR2T12	127064	broad.mit.edu	37	1	248457988	248457988	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr1:248457988G>A	ENST00000317996.1	-	1	892	c.893C>T	c.(892-894)gCc>gTc	p.A298V		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	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;0.0201)			CCGTTTCAGGGCTTCCTTGAC	0.468																																						ENST00000317996.1																			0				endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(892-894)gCc>gTc		olfactory receptor, family 2, subfamily T, member 12							166.0	161.0	163.0					1																	248457988		2203	4300	6503	SO:0001583	missense	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248457988G>A	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.893C>T	1.37:g.248457988G>A	ENSP00000324583:p.Ala298Val						p.A298V	NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	892	-	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)		298						Missense_Mutation	SNP	ENST00000317996.1	37	c.893C>T	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	g	13.78	2.339717	0.41398	.	.	ENSG00000177201	ENST00000317996	T	0.44881	0.91	1.71	1.71	0.24356	.	0.000000	0.31123	U	0.008203	T	0.51415	0.1673	L	0.48642	1.525	0.09310	N	1	D	0.71674	0.998	D	0.66602	0.945	T	0.40515	-0.9559	10	0.66056	D	0.02	.	10.9522	0.47336	0.0:0.0:1.0:0.0	.	298	Q8NG77	O2T12_HUMAN	V	298	ENSP00000324583:A298V	ENSP00000324583:A298V	A	-	2	0	OR2T12	246524611	0.008000	0.16893	0.005000	0.12908	0.072000	0.16883	1.333000	0.33816	0.754000	0.32968	0.418000	0.28097	GCC		0.468	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		63	94	0	0	0	1	0	63	94				
EIF4G1	1981	broad.mit.edu	37	3	184043642	184043642	+	Missense_Mutation	SNP	G	G	A	rs201567302		TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr3:184043642G>A	ENST00000346169.2	+	21	3396	c.3125G>A	c.(3124-3126)cGt>cAt	p.R1042H	EIF4G1_ENST00000382330.3_Missense_Mutation_p.R1049H|EIF4G1_ENST00000427845.1_Missense_Mutation_p.R956H|EIF4G1_ENST00000342981.4_Missense_Mutation_p.R1043H|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R879H|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R1002H|EIF4G1_ENST00000392537.2_Missense_Mutation_p.R955H|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R1049H|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R1042H|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R847H|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R1049H|EIF4G1_ENST00000350481.5_Missense_Mutation_p.R878H|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R1003H|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R846H|SNORD66_ENST00000390856.1_RNA	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1042	eIF3/EIF4A-binding.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|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)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTGTCAGGCCGTGGACTTCCC	0.542																																						ENST00000342981.4																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(3127-3129)cGt>cAt		eukaryotic translation initiation factor 4 gamma, 1							214.0	211.0	212.0					3																	184043642		2203	4300	6503	SO:0001583	missense	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184043642G>A	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.3125G>A	3.37:g.184043642G>A	ENSP00000316879:p.Arg1042His					EIF4G1_ENST00000350481.5_Missense_Mutation_p.R878H|EIF4G1_ENST00000427845.1_Missense_Mutation_p.R956H|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R847H|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R879H|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R1002H|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R1042H|EIF4G1_ENST00000392537.2_Missense_Mutation_p.R955H|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R846H|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R1049H|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R1049H|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000346169.2_Missense_Mutation_p.R1042H|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R1049H|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R1003H	p.R1043H	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		20	3542	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		1042			eIF3/EIF4A-binding.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.3128G>A	CCDS3259.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.3|29.3	4.996648|4.996648	0.93167|0.93167	.|.	.|.	ENSG00000114867|ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046|ENST00000448284	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.05513|.	3.68;3.66;3.59;3.68;3.45;3.68;3.59;3.68;3.68;3.68;3.67;3.45;3.43;3.43|.	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	0.232862|.	0.43919|.	D|.	0.000506|.	T|T	0.78071|0.78071	0.4226|0.4226	M|M	0.80746|0.80746	2.51|2.51	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D|.	0.76494|.	0.999;0.998;0.998|.	P;P;P|.	0.56163|.	0.793;0.793;0.793|.	T|T	0.78368|0.78368	-0.2231|-0.2231	10|5	0.66056|.	D|.	0.02|.	-5.9169|-5.9169	17.1541|17.1541	0.86785|0.86785	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1049;1043;1042|.	E9PFM1;D3DNT2;Q04637|.	.;.;IF4G1_HUMAN|.	H|M	1042;1002;955;1049;878;1049;956;1043;1042;1049;1003;879;847;846|94	ENSP00000316879:R1042H;ENSP00000391935:R1002H;ENSP00000376320:R955H;ENSP00000371767:R1049H;ENSP00000317600:R878H;ENSP00000338020:R1049H;ENSP00000407682:R956H;ENSP00000343450:R1043H;ENSP00000323737:R1042H;ENSP00000416255:R1049H;ENSP00000395974:R1003H;ENSP00000399858:R879H;ENSP00000411826:R847H;ENSP00000404754:R846H|.	ENSP00000323737:R1042H|.	R|V	+|+	2|1	0|0	EIF4G1|EIF4G1	185526336|185526336	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	7.319000|7.319000	0.79040|0.79040	2.733000|2.733000	0.93635|0.93635	0.561000|0.561000	0.74099|0.74099	CGT|GTG		0.542	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		4	309	0	0	0	1	0	4	309				
LZTS1	11178	broad.mit.edu	37	8	20110545	20110545	+	Silent	SNP	C	C	T			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr8:20110545C>T	ENST00000381569.1	-	3	1254	c.897G>A	c.(895-897)ccG>ccA	p.P299P	LZTS1_ENST00000265801.6_Silent_p.P299P|LZTS1_ENST00000522290.1_Silent_p.P299P			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	299					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TGCAGCGCCGCGGCCGCTCCT	0.682																																						ENST00000381569.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(895-897)ccG>ccA		leucine zipper, putative tumor suppressor 1							28.0	28.0	28.0					8																	20110545		2200	4289	6489	SO:0001819	synonymous_variant	11178				cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:20110545C>T	AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"""F37/Esophageal cancer-related gene-coding leucine-zipper motif"""			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.897G>A	8.37:g.20110545C>T						LZTS1_ENST00000265801.6_Silent_p.P299P|LZTS1_ENST00000522290.1_Silent_p.P299P	p.P299P			Q9Y250	LZTS1_HUMAN		Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	3	1254	-			299					D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Silent	SNP	ENST00000381569.1	37	c.897G>A	CCDS6015.1																																																																																				0.682	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	NM_021020		22	35	0	0	0	1	0	22	35				
KLHDC8B	200942	broad.mit.edu	37	3	49211747	49211747	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr3:49211747G>A	ENST00000332780.2	+	3	661	c.452G>A	c.(451-453)cGt>cAt	p.R151H	KLHDC8B_ENST00000476495.2_3'UTR	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	151						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TATGAGCCCCGTCGGGACTGC	0.592																																						ENST00000332780.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7						c.(451-453)cGt>cAt		kelch domain containing 8B							98.0	91.0	94.0					3																	49211747		2203	4300	6503	SO:0001583	missense	200942					cytoplasm		g.chr3:49211747G>A		CCDS2791.1	3p21.31	2008-02-05			ENSG00000185909	ENSG00000185909			28557	protein-coding gene	gene with protein product		613169					Standard	NM_173546		Approved	MGC35097	uc003cwh.3	Q8IXV7	OTTHUMG00000156814	ENST00000332780.2:c.452G>A	3.37:g.49211747G>A	ENSP00000327468:p.Arg151His					KLHDC8B_ENST00000476495.2_3'UTR	p.R151H	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	3	661	+			151						Missense_Mutation	SNP	ENST00000332780.2	37	c.452G>A	CCDS2791.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.616634	0.66672	.	.	ENSG00000185909	ENST00000332780	T	0.79033	-1.23	5.53	3.7	0.42460	Kelch-type beta propeller (1);	0.348813	0.26765	N	0.022620	T	0.70727	0.3257	L	0.27053	0.805	0.09310	N	0.999994	D	0.62365	0.991	P	0.51833	0.681	T	0.61802	-0.6988	10	0.46703	T	0.11	-31.311	7.7601	0.28946	0.0995:0.3537:0.5469:0.0	.	151	Q8IXV7	KLD8B_HUMAN	H	151	ENSP00000327468:R151H	ENSP00000327468:R151H	R	+	2	0	KLHDC8B	49186751	0.586000	0.26782	0.975000	0.42487	0.995000	0.86356	2.118000	0.41949	1.327000	0.45338	0.655000	0.94253	CGT		0.592	KLHDC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345974.1	NM_173546		4	88	0	0	0	1	0	4	88				
DNAJC2	27000	broad.mit.edu	37	7	102967014	102967014	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr7:102967014G>T	ENST00000379263.3	-	5	798	c.548C>A	c.(547-549)aCc>aAc	p.T183N	DNAJC2_ENST00000249270.7_Missense_Mutation_p.T183N|PMPCB_ENST00000420236.2_Intron	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	183	ZRF1-UBD.				'de novo' cotranslational protein folding (GO:0051083)|chromatin modification (GO:0016568)|DNA replication (GO:0006260)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130)			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						AAACACTGGGGTAAACACTTC	0.393																																						ENST00000379263.3																			0				endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						c.(547-549)aCc>aAc		DnaJ (Hsp40) homolog, subfamily C, member 2							106.0	101.0	102.0					7																	102967014		1856	4098	5954	SO:0001583	missense	27000				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding	g.chr7:102967014G>T	X98260	CCDS43628.1, CCDS47679.1	7q22-q32	2011-09-02	2008-07-01	2008-07-01	ENSG00000105821	ENSG00000105821		"""Heat shock proteins / DNAJ (HSP40)"""	13192	protein-coding gene	gene with protein product		605502	"""zuotin related factor 1"""	ZRF1		8885239	Standard	NM_001129887		Approved	MPP11, MPHOSPH11, ZUO1, zuotin	uc003vbo.3	Q99543	OTTHUMG00000157202	ENST00000379263.3:c.548C>A	7.37:g.102967014G>T	ENSP00000368565:p.Thr183Asn					PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Missense_Mutation_p.T183N	p.T183N	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN			5	798	-			183			ZRF1-UBD.		A4VCI0|Q9BVX1	Missense_Mutation	SNP	ENST00000379263.3	37	c.548C>A	CCDS43628.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.65|12.65	2.000532|2.000532	0.35320|0.35320	.|.	.|.	ENSG00000105821|ENSG00000105821	ENST00000426036|ENST00000249270;ENST00000379263;ENST00000537811;ENST00000454277	.|.	.|.	.|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.425348	.|0.28349	.|N	.|0.015662	T|T	0.49440|0.49440	0.1557|0.1557	N|N	0.16307|0.16307	0.4|0.4	0.80722|0.80722	D|D	1|1	.|B;B	.|0.12630	.|0.002;0.006	.|B;B	.|0.16722	.|0.016;0.01	T|T	0.35251|0.35251	-0.9796|-0.9796	5|9	.|0.23302	.|T	.|0.38	-10.0609|-10.0609	19.7069|19.7069	0.96076|0.96076	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|183;183	.|Q99543-2;Q99543	.|.;DNJC2_HUMAN	T|N	172|183;183;183;109	.|.	.|ENSP00000249270:T183N	P|T	-|-	1|2	0|0	DNAJC2|DNAJC2	102754250|102754250	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	5.865000|5.865000	0.69583|0.69583	2.894000|2.894000	0.99253|0.99253	0.591000|0.591000	0.81541|0.81541	CCC|ACC		0.393	DNAJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347891.1			11	36	1	0	4.68919e-08	1	5.1916e-08	11	36				
MOGAT2	80168	broad.mit.edu	37	11	75440013	75440013	+	Missense_Mutation	SNP	C	C	T	rs377311369	byFrequency	TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr11:75440013C>T	ENST00000198801.5	+	5	899	c.829C>T	c.(829-831)Cgc>Tgc	p.R277C	MOGAT2_ENST00000526712.1_Missense_Mutation_p.R195C	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	277					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|intestinal absorption (GO:0050892)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|acetyltransferase activity (GO:0016407)			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					AATACCCTACCGCCGGCCCAT	0.562													C|||	2	0.000399361	0.0	0.0	5008	,	,		18942	0.002		0.0	False		,,,				2504	0.0					ENST00000526712.1																			0				NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20						c.(583-585)Cgc>Tgc		monoacylglycerol O-acyltransferase 2							121.0	103.0	109.0					11																	75440013		2200	4293	6493	SO:0001583	missense	80168				glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	g.chr11:75440013C>T	AY157608	CCDS8240.1	11q13.5	2008-02-05			ENSG00000166391	ENSG00000166391			23248	protein-coding gene	gene with protein product		610270				14970677	Standard	NM_025098		Approved	MGAT2, DGAT2L5, FLJ22644	uc010rru.2	Q3SYC2	OTTHUMG00000165341	ENST00000198801.5:c.829C>T	11.37:g.75440013C>T	ENSP00000198801:p.Arg277Cys					MOGAT2_ENST00000198801.5_Missense_Mutation_p.R277C	p.R195C			Q3SYC2	MOGT2_HUMAN			4	1356	+	Ovarian(111;0.103)		277					A8K7I3|Q3SYC1|Q6ZQZ2|Q86UH6|Q9H630	Missense_Mutation	SNP	ENST00000198801.5	37	c.583C>T	CCDS8240.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.143544	0.77888	.	.	ENSG00000166391	ENST00000198801;ENST00000526712	T;T	0.18338	2.22;2.22	6.03	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.49270	0.1547	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58612	-0.7606	10	0.72032	D	0.01	-3.3782	9.063	0.36447	0.1461:0.7799:0.0:0.074	.	277	Q3SYC2	MOGT2_HUMAN	C	277;195	ENSP00000198801:R277C;ENSP00000436283:R195C	ENSP00000198801:R277C	R	+	1	0	MOGAT2	75117661	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.522000	0.45572	1.566000	0.49654	0.655000	0.94253	CGC		0.562	MOGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383520.1	NM_025098		35	51	0	0	0	1	0	35	51				
PYROXD2	84795	broad.mit.edu	37	10	100152747	100152747	+	Silent	SNP	C	C	T			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr10:100152747C>T	ENST00000370575.4	-	9	927	c.879G>A	c.(877-879)gcG>gcA	p.A293A	PYROXD2_ENST00000483923.1_5'UTR|MIR1287_ENST00000408492.1_RNA	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	293							oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						AGCTTGCGATCGCATCAGAGA	0.592																																						ENST00000370575.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(877-879)gcG>gcA		pyridine nucleotide-disulphide oxidoreductase domain 2							97.0	87.0	90.0					10																	100152747		2203	4300	6503	SO:0001819	synonymous_variant	84795						oxidoreductase activity	g.chr10:100152747C>T	AK074429	CCDS7474.1	10q24.2	2009-04-22	2009-04-22	2009-04-22	ENSG00000119943	ENSG00000119943			23517	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 33"""	C10orf33			Standard	NM_032709		Approved	FLJ23849	uc001kpc.3	Q8N2H3	OTTHUMG00000018877	ENST00000370575.4:c.879G>A	10.37:g.100152747C>T						PYROXD2_ENST00000483923.1_5'UTR	p.A293A	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN			9	927	-			293					D3DR61|Q5TAA9|Q9BRQ1	Silent	SNP	ENST00000370575.4	37	c.879G>A	CCDS7474.1																																																																																				0.592	PYROXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049782.2	NM_032709		14	35	0	0	0	1	0	14	35				
PLS1	5357	broad.mit.edu	37	3	142416908	142416908	+	Splice_Site	SNP	A	A	G			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr3:142416908A>G	ENST00000337777.3	+	12	1583	c.1370A>G	c.(1369-1371)aAg>aGg	p.K457R	PLS1_ENST00000497002.1_Splice_Site_p.K457R|PLS1_ENST00000457734.2_Splice_Site_p.K457R	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	457	Actin-binding 2.|CH 3. {ECO:0000255|PROSITE- ProRule:PRU00044}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						AACATGAAGAAGGTGAATGAA	0.408																																						ENST00000337777.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						c.e12+1		plastin 1							81.0	74.0	76.0					3																	142416908		2203	4300	6503	SO:0001630	splice_region_variant	5357					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr3:142416908A>G	L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756		"""EF-hand domain containing"""	9090	protein-coding gene	gene with protein product		602734	"""plastin 1 (I isoform)"""			8139549	Standard	NM_002670		Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.1371+1A>G	3.37:g.142416908A>G						PLS1_ENST00000497002.1_Splice_Site_p.K457_splice|PLS1_ENST00000457734.2_Splice_Site_p.K457_splice	p.K457_splice	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN			12	1583	+			457			Actin-binding 2.|CH 3.		A8K2Q1|D3DNG3|Q8NEG6	Splice_Site	SNP	ENST00000337777.3	37	c.1371_splice	CCDS3125.1	.	.	.	.	.	.	.	.	.	.	A	19.45	3.829999	0.71258	.	.	ENSG00000120756	ENST00000457734;ENST00000337777;ENST00000497002	D;D;D	0.95001	-3.58;-3.58;-3.58	5.86	4.69	0.59074	Calponin homology domain (5);	0.084638	0.85682	D	0.000000	D	0.96109	0.8732	M	0.72894	2.215	0.80722	D	1	D	0.61697	0.99	P	0.61397	0.888	D	0.95857	0.8880	10	0.87932	D	0	-24.4136	12.466	0.55759	0.8745:0.0:0.0:0.1255	.	457	Q14651	PLSI_HUMAN	R	457	ENSP00000387890:K457R;ENSP00000336831:K457R;ENSP00000418700:K457R	ENSP00000336831:K457R	K	+	2	0	PLS1	143899598	1.000000	0.71417	1.000000	0.80357	0.586000	0.36452	9.339000	0.96797	1.027000	0.39758	-0.327000	0.08410	AAG		0.408	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354435.1	NM_002670	Missense_Mutation	14	19	0	0	0	1	0	14	19				
CACNA1E	777	broad.mit.edu	37	1	181741295	181741295	+	Silent	SNP	C	C	T	rs377382446		TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr1:181741295C>T	ENST00000367573.2	+	37	5067	c.5067C>T	c.(5065-5067)aaC>aaT	p.N1689N	CACNA1E_ENST00000526775.1_Silent_p.N1670N|CACNA1E_ENST00000357570.5_Silent_p.N1640N|CACNA1E_ENST00000367567.4_Silent_p.N1296N|CACNA1E_ENST00000367570.1_Silent_p.N1689N|CACNA1E_ENST00000360108.3_Silent_p.N1670N|CACNA1E_ENST00000358338.5_Silent_p.N1621N|RNA5SP70_ENST00000517168.1_RNA	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1689					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CAGGGCAGAACGAGAACGAAC	0.562																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(5008-5010)aaC>aaT		calcium channel, voltage-dependent, R type, alpha 1E subunit		C	,,	1,4377	2.1+/-5.4	0,1,2188	186.0	188.0	188.0		5067,5067,5010	-5.3	0.1	1		188	0,8570		0,0,4285	no	coding-synonymous,coding-synonymous,coding-synonymous	CACNA1E	NM_000721.3,NM_001205293.1,NM_001205294.1	,,	0,1,6473	TT,TC,CC		0.0,0.0228,0.0077	,,	1689/2271,1689/2314,1670/2252	181741295	1,12947	2189	4285	6474	SO:0001819	synonymous_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181741295C>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.5067C>T	1.37:g.181741295C>T						CACNA1E_ENST00000358338.5_Silent_p.N1621N|CACNA1E_ENST00000367570.1_Silent_p.N1689N|CACNA1E_ENST00000360108.3_Silent_p.N1670N|CACNA1E_ENST00000367573.2_Silent_p.N1689N|CACNA1E_ENST00000367567.4_Silent_p.N1296N|CACNA1E_ENST00000357570.5_Silent_p.N1640N	p.N1670N	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			36	5175	+			1689					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	c.5010C>T	CCDS55664.1																																																																																				0.562	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		33	65	0	0	0	1	0	33	65				
DLC1	10395	broad.mit.edu	37	8	12957110	12957110	+	Silent	SNP	G	G	A			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr8:12957110G>A	ENST00000276297.4	-	9	3145	c.2736C>T	c.(2734-2736)caC>caT	p.H912H	DLC1_ENST00000358919.2_Silent_p.H475H|DLC1_ENST00000512044.2_Silent_p.H509H|DLC1_ENST00000520226.1_Silent_p.H401H	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	912					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.H912H(1)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCCCCTTCACGTGGTAGAGGA	0.587																																						ENST00000276297.4																			1	Substitution - coding silent(1)	p.H912H(1)	large_intestine(1)	NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(2734-2736)caC>caT		deleted in liver cancer 1							82.0	73.0	76.0					8																	12957110		2203	4300	6503	SO:0001819	synonymous_variant	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957110G>A	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2736C>T	8.37:g.12957110G>A						DLC1_ENST00000520226.1_Silent_p.H401H|DLC1_ENST00000358919.2_Silent_p.H475H|DLC1_ENST00000512044.2_Silent_p.H509H	p.H912H	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			9	3145	-			912					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	ENST00000276297.4	37	c.2736C>T	CCDS5989.1																																																																																				0.587	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		6	63	0	0	0	1	0	6	63				
RARS2	57038	broad.mit.edu	37	6	88240517	88240517	+	Silent	SNP	G	G	A			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr6:88240517G>A	ENST00000369536.5	-	9	801	c.756C>T	c.(754-756)taC>taT	p.Y252Y		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	252					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		AAACCCGAATGTACTCTTCAA	0.473																																						ENST00000369536.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(754-756)taC>taT		arginyl-tRNA synthetase 2, mitochondrial							165.0	143.0	150.0					6																	88240517		2203	4300	6503	SO:0001819	synonymous_variant	57038				arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding	g.chr6:88240517G>A	AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	21406	protein-coding gene	gene with protein product	"""arginine tRNA ligase 2, mitochondrial (putative)"""	611524	"""arginyl-tRNA synthetase-like"""	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.756C>T	6.37:g.88240517G>A							p.Y252Y	NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0456)	9	801	-		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	252					B2RDT7|Q96FU5|Q9H8K8	Silent	SNP	ENST00000369536.5	37	c.756C>T	CCDS5011.1																																																																																				0.473	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041448.1	NM_020320		23	44	0	0	0	1	0	23	44				
XCR1	2829	broad.mit.edu	37	3	46063378	46063378	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr3:46063378G>A	ENST00000309285.3	-	2	418	c.62C>T	c.(61-63)cCg>cTg	p.P21L	XCR1_ENST00000542109.1_Missense_Mutation_p.P21L	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	21					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol (GO:0051209)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GTTCTCACACGGCTGGCTCTG	0.552																																						ENST00000309285.3																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14						c.(61-63)cCg>cTg		chemokine (C motif) receptor 1							78.0	80.0	79.0					3																	46063378		2203	4300	6503	SO:0001583	missense	2829				chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity	g.chr3:46063378G>A		CCDS2736.1	3p21.3-p21.1	2012-11-19	2006-01-13	2002-08-23	ENSG00000173578	ENSG00000173578		"""GPCR / Class A : Chemokine receptors : X-C motif"""	1625	protein-coding gene	gene with protein product		600552	"""chemokine (C motif) XC receptor 1"""	GPR5, CCXCR1		7832990, 10400311	Standard	NM_005283		Approved		uc003cpf.3	P46094	OTTHUMG00000133449	ENST00000309285.3:c.62C>T	3.37:g.46063378G>A	ENSP00000310405:p.Pro21Leu					XCR1_ENST00000542109.1_Missense_Mutation_p.P21L	p.P21L	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)	2	418	-			21						Missense_Mutation	SNP	ENST00000309285.3	37	c.62C>T	CCDS2736.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.271567	0.00257	.	.	ENSG00000173578	ENST00000309285;ENST00000542109;ENST00000395946	T;T	0.67523	-0.27;-0.27	5.03	2.58	0.30949	.	1.364650	0.05708	N	0.595466	T	0.43456	0.1248	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.26916	-1.0089	10	0.24483	T	0.36	.	3.3904	0.07287	0.6493:0.0:0.1824:0.1682	.	21	P46094	XCR1_HUMAN	L	21	ENSP00000310405:P21L;ENSP00000438119:P21L	ENSP00000310405:P21L	P	-	2	0	XCR1	46038382	0.021000	0.18746	0.196000	0.23383	0.002000	0.02628	1.001000	0.29783	0.257000	0.21650	-1.144000	0.01866	CCG		0.552	XCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257322.2			28	33	0	0	0	1	0	28	33				
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121139088	121139088	+	lincRNA	DEL	T	T	-			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr1:121139088delT	ENST00000417218.1	+	0	475				RP11-343N15.1_ENST00000437515.1_lincRNA																							GTCATCTTCATTGGCAGCCTG	0.672																																						ENST00000417218.1																			0																																																			0							g.chr1:121139088delT																													1.37:g.121139088delT						RP11-343N15.1_ENST00000437515.1_lincRNA								0	475	+									RNA	DEL	ENST00000417218.1	37																																																																																						0.672	AL592494.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000036739.1			2	4						2	4	---	---	---	---
PRRT3	285368	broad.mit.edu	37	3	9991858	9991859	+	Splice_Site	INS	-	-	A	rs377564516		TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr3:9991858_9991859insA	ENST00000412055.1	-	2	73		c.e2-2		PRRT3_ENST00000411976.2_Splice_Site|PRRT3-AS1_ENST00000431558.1_RNA	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3							integral component of membrane (GO:0016021)				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						TGGATGAGCCTAAAAAAAAAAC	0.574																																						ENST00000412055.1																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						c.e2-2		proline-rich transmembrane protein 3																																				SO:0001630	splice_region_variant	285368					integral to membrane		g.chr3:9991858_9991859insA	AK090993	CCDS43049.1	3p25.3	2011-10-10			ENSG00000163704	ENSG00000163704		"""Proline-rich transmembrane proteins"""	26591	protein-coding gene	gene with protein product							Standard	NM_207351		Approved	FLJ33674	uc003bul.2	Q5FWE3	OTTHUMG00000155285	ENST00000412055.1:c.57-2->T	3.37:g.9991868_9991868dupA						PRRT3-AS1_ENST00000431558.1_RNA|PRRT3_ENST00000411976.2_Splice_Site		NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN			2	73	-								Q49AD0|Q6UXY6|Q8NBC9	Splice_Site	INS	ENST00000412055.1	37		CCDS43049.1																																																																																				0.574	PRRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339322.1	NM_207351	Intron	2	4						2	4	---	---	---	---
GARS	2617	broad.mit.edu	37	7	30634583	30634585	+	In_Frame_Del	DEL	CTG	CTG	-	rs150213018		TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr7:30634583_30634585delCTG	ENST00000389266.3	+	1	287_289	c.46_48delCTG	c.(46-48)ctgdel	p.L20del	AC005154.6_ENST00000579174.1_RNA|AC005154.6_ENST00000580440.1_RNA|AC005154.6_ENST00000582549.1_RNA|AC005154.6_ENST00000584199.1_RNA|AC005154.6_ENST00000578994.1_RNA|AC005154.6_ENST00000583664.1_RNA|AC005154.6_ENST00000581665.1_RNA|AC005154.6_ENST00000584372.1_RNA	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	20					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|glycyl-tRNA aminoacylation (GO:0006426)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|glycine-tRNA ligase activity (GO:0004820)|protein dimerization activity (GO:0046983)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	TCGCGCCGCTCTGCTGCTGCTGC	0.749																																						ENST00000389266.3																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24						c.(46-48)del		glycyl-tRNA synthetase	Glycine(DB00145)			181,3387		9,163,1612						-3.2	0.0		dbSNP_134	8	497,6929		13,471,3229	no	coding	GARS	NM_002047.2		22,634,4841	A1A1,A1R,RR		6.6927,5.0729,6.167				678,10316				SO:0001651	inframe_deletion	2617				cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity	g.chr7:30634583_30634585delCTG	AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	6.1.1.14	"""Aminoacyl tRNA synthetases / Class II"""	4162	protein-coding gene	gene with protein product	"""glycine tRNA ligase"""	600287	"""Charcot-Marie-Tooth neuropathy 2D"""	CMT2D		8595897, 8872480	Standard	NM_002047		Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	ENST00000389266.3:c.46_48delCTG	7.37:g.30634592_30634594delCTG	ENSP00000373918:p.Leu20del						p.L20del	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN			1	287_289	+			20					B3KQA2|B4DIA0|Q969Y1	In_Frame_Del	DEL	ENST00000389266.3	37	c.46_48delCTG	CCDS43564.1																																																																																				0.749	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047		6	12						6	12	---	---	---	---
SH3PXD2A	9644	broad.mit.edu	37	10	105452823	105452823	+	Intron	DEL	G	G	-			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chr10:105452823delG	ENST00000369774.4	-	6	675				SH3PXD2A_ENST00000315994.6_Intron|SH3PXD2A_ENST00000427662.2_Frame_Shift_Del_p.F9fs|SH3PXD2A_ENST00000355946.2_Intron			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A						superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CCCTGAAAAAGAAGCAACAAC	0.652																																						ENST00000427662.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38						c.(19-21)ttfs		SH3 and PX domains 2A							66.0	67.0	66.0					10																	105452823		2203	4300	6503	SO:0001627	intron_variant	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105452823delG	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.399-9C>-	10.37:g.105452823delG						SH3PXD2A_ENST00000315994.6_Intron|SH3PXD2A_ENST00000369774.4_Intron|SH3PXD2A_ENST00000355946.2_Intron	p.F9fs			Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	1	107	-		Colorectal(252;0.0815)|Breast(234;0.131)	0			PX.		D3DR98|O43302|Q5TCZ2|Q5TDQ8	Frame_Shift_Del	DEL	ENST00000369774.4	37	c.21delC																																																																																					0.652	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		8	21						8	21	---	---	---	---
PHKA1	5255	broad.mit.edu	37	X	71819685	71819685	+	Intron	DEL	A	A	-			TCGA-ZG-A9L9-01A-11D-A41K-08	TCGA-ZG-A9L9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e35e6a7-5860-4968-a711-6d0875c29465	12feb794-20b1-44b1-9c4f-fc995dad737f	g.chrX:71819685delA	ENST00000373542.4	-	28	3232				PHKA1_ENST00000373539.3_Frame_Shift_Del_p.L1035fs|PHKA1_ENST00000373545.3_Frame_Shift_Del_p.L976fs|PHKA1_ENST00000541944.1_Intron|PHKA1_ENST00000339490.3_Intron	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)						carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					CGGTGACATCAAATCTATACC	0.338																																						ENST00000373545.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(2926-2928)tgfs		phosphorylase kinase, alpha 1 (muscle)							18.0	16.0	17.0					X																	71819685		875	1987	2862	SO:0001627	intron_variant	5255				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:71819685delA		CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.3072+2155T>-	X.37:g.71819685delA						PHKA1_ENST00000373539.3_Frame_Shift_Del_p.L1035fs|PHKA1_ENST00000339490.3_Intron|PHKA1_ENST00000373542.4_Intron|PHKA1_ENST00000541944.1_Intron	p.L976fs			P46020	KPB1_HUMAN			28	3365	-	Renal(35;0.156)		1024					B7ZL05|B7ZL07|Q2M3D7	Frame_Shift_Del	DEL	ENST00000373542.4	37	c.2927delT	CCDS14421.1																																																																																				0.338	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1			2	4						2	4	---	---	---	---
