#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
OR2M4	26245	broad.mit.edu	37	1	248402311	248402311	+	Silent	SNP	T	T	C			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr1:248402311T>C	ENST00000306687.1	+	1	81	c.81T>C	c.(79-81)ctT>ctC	p.L27L		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	27					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|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;0.0245)			ACACCTTCCTTTTTTCTCTGG	0.463																																						uc010pzh.2																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50						c.(79-81)ctT>ctC		Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA.							135.0	136.0	136.0					1																	248402311		2203	4300	6503	SO:0001819	synonymous_variant	26245				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248402311T>C	X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"""GPCR / Class A : Olfactory receptors"""	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.81T>C	1.37:g.248402311T>C							p.L27L	NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		0	81	+	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		27					Q15611|Q8NG82	Silent	SNP	ENST00000306687.1	37	c.81T>C	CCDS31108.1																																																																																				0.463	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	NM_017504	
ZNF672	79894	broad.mit.edu	37	1	249142450	249142450	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr1:249142450T>G	ENST00000306562.3	+	4	1723	c.977T>G	c.(976-978)cTc>cGc	p.L326R		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	326					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(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CGCTCGGACCTCACCAAGCAC	0.697																																						uc001iex.3																			0				endometrium(2)|kidney(2)|large_intestine(1)	5						c.(976-978)cTc>cGc		Homo sapiens zinc finger protein 672 (ZNF672), mRNA.							18.0	19.0	19.0					1																	249142450		2201	4299	6500	SO:0001583	missense	79894				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:249142450T>G	AK027476	CCDS1638.1	1q44	2013-01-08			ENSG00000171161	ENSG00000171161		"""Zinc fingers, C2H2-type"""	26179	protein-coding gene	gene with protein product	"""hypothetical protein FLJ22301"""					12477932	Standard	NM_024836		Approved	FLJ22301	uc001iex.3	Q499Z4	OTTHUMG00000040377	ENST00000306562.3:c.977T>G	1.37:g.249142450T>G	ENSP00000421915:p.Leu326Arg					ZNF672_uc021pme.1_Missense_Mutation_p.L326R	p.L326R	NM_024836	NP_079112	Q499Z4	ZN672_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		3	1672	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	326					Q96H65|Q96IM3|Q9H6G5	Missense_Mutation	SNP	ENST00000306562.3	37	c.977T>G	CCDS1638.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.084724	0.76642	.	.	ENSG00000171161	ENST00000306562	T	0.53640	0.61	3.11	3.11	0.35812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.32753	U	0.005691	T	0.67040	0.2851	M	0.84082	2.675	0.35124	D	0.767358	D	0.89917	1.0	D	0.87578	0.998	T	0.76727	-0.2853	9	.	.	.	.	9.9152	0.41430	0.0:0.0:0.0:1.0	.	326	Q499Z4	ZN672_HUMAN	R	326	ENSP00000421915:L326R	.	L	+	2	0	ZNF672	247109073	1.000000	0.71417	0.999000	0.59377	0.861000	0.49209	5.407000	0.66363	1.661000	0.50771	0.459000	0.35465	CTC		0.697	ZNF672-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097125.2	NM_024836	
ZNF692	55657	broad.mit.edu	37	1	249151478	249151478	+	Silent	SNP	G	G	T	rs141085159	byFrequency	TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr1:249151478G>T	ENST00000306601.4	-	4	596	c.430C>A	c.(430-432)Cgg>Agg	p.R144R	AL672294.1_ENST00000417047.1_RNA|ZNF692_ENST00000451251.1_Silent_p.R149R|ZNF692_ENST00000366469.5_Silent_p.R144R|ZNF692_ENST00000427146.1_Silent_p.R144R|ZNF692_ENST00000468455.1_5'UTR|ZNF692_ENST00000366471.3_Silent_p.R144R	NM_017865.3	NP_060335.2	Q9BU19	ZN692_HUMAN	zinc finger protein 692	144					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CAACTTCTCCGAGTAGTATGT	0.547																																						uc001ifc.2																			0				endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17						c.(430-432)Cgg>Agg		Homo sapiens zinc finger protein 692 (ZNF692), transcript variant 2, mRNA.							91.0	93.0	92.0					1																	249151478		2203	4300	6503	SO:0001819	synonymous_variant	55657				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:249151478G>T	BC002948	CCDS31127.1, CCDS44348.1, CCDS53487.1	1q44	2013-01-08			ENSG00000171163	ENSG00000171163		"""Zinc fingers, C2H2-type"""	26049	protein-coding gene	gene with protein product						12477932	Standard	NM_001136036		Approved	FLJ20531, Zfp692	uc001ifc.2	Q9BU19	OTTHUMG00000040423	ENST00000306601.4:c.430C>A	1.37:g.249151478G>T						ZNF692_uc001iez.2_5'Flank|ZNF692_uc001ifb.2_5'UTR|ZNF692_uc010pzr.2_Silent_p.R149R|ZNF692_uc001iff.2_Silent_p.R144R	p.R144R	NM_017865	NP_060335	Q9BU19	ZN692_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		3	641	-	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	144					B4DXZ0|Q5SRA5|Q5SRA6|Q9HBC9|Q9NW93|Q9NWY6|Q9UF97	Silent	SNP	ENST00000306601.4	37	c.430C>A	CCDS31127.1																																																																																				0.547	ZNF692-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097298.1	NM_017865	
LIPK	643414	broad.mit.edu	37	10	90497505	90497505	+	Silent	SNP	T	T	C			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr10:90497505T>C	ENST00000404190.1	+	6	783	c.783T>C	c.(781-783)acT>acC	p.T261T		NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K	261					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		TCCTATTTACTCTGAGTGGAT	0.383																																						uc010qmv.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12						c.(781-783)acT>acC		Homo sapiens lipase, family member K (LIPK), mRNA.							182.0	171.0	174.0					10																	90497505		1853	4106	5959	SO:0001819	synonymous_variant	643414				lipid catabolic process	extracellular region	hydrolase activity	g.chr10:90497505T>C		CCDS44455.1	10q23.31	2008-02-04	2007-02-27	2007-02-27	ENSG00000204021	ENSG00000204021			23444	protein-coding gene	gene with protein product		613922	"""lipase-like, ab-hydrolase domain containing 2"""	LIPL2			Standard	NM_001080518		Approved	bA186O14.2	uc010qmv.2	Q5VXJ0	OTTHUMG00000018693	ENST00000404190.1:c.783T>C	10.37:g.90497505T>C							p.T261T	NM_001080518	NP_001073987	Q5VXJ0	LIPK_HUMAN		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)	5	783	+		Colorectal(252;0.0381)	261					A7KIH8	Silent	SNP	ENST00000404190.1	37	c.783T>C	CCDS44455.1																																																																																				0.383	LIPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049253.2	XM_061222	
MUC5B	727897	broad.mit.edu	37	11	1272821	1272821	+	Missense_Mutation	SNP	G	G	A	rs56353324		TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr11:1272821G>A	ENST00000529681.1	+	31	14769	c.14711G>A	c.(14710-14712)cGc>cAc	p.R4904H	MUC5B_ENST00000447027.1_Missense_Mutation_p.R4907H|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4904	Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGGACCACCCGCACCCCTGCA	0.652													A|||	1	0.000199681	0.0	0.0	5008	,	,		18328	0.0		0.001	False		,,,				2504	0.0					uc001lta.3																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(14710-14712)cGc>cAc		Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.		A	HIS/ARG	0,4334		0,0,2167	45.0	57.0	53.0		14711	-5.6	0.0	11	dbSNP_129	53	5,8475		0,5,4235	yes	missense	MUC5B	NM_002458.2	29	0,5,6402	AA,AG,GG		0.059,0.0,0.039	benign	4904/5763	1272821	5,12809	2167	4240	6407	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1272821G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.14711G>A	11.37:g.1272821G>A	ENSP00000436812:p.Arg4904His						p.R4904H	NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	30	14770	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4904			Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.14711G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	g	2.985	-0.209482	0.06140	0.0	5.9E-4	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.16743	2.32;2.51	2.78	-5.57	0.02521	.	.	.	.	.	T	0.11110	0.0271	L	0.29908	0.895	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.01281	0.0;0.0	T	0.25117	-1.0141	9	0.87932	D	0	.	8.7803	0.34787	0.39:0.1137:0.4963:0.0	rs56353324	5226;4907	A7Y9J9;E9PBJ0	.;.	H	4904;4907;4848;4603	ENSP00000436812:R4904H;ENSP00000415793:R4907H	ENSP00000343037:R4848H	R	+	2	0	MUC5B	1229397	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.518000	0.00222	-2.519000	0.00498	-2.396000	0.00226	CGC		0.652	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
OR51D1	390038	broad.mit.edu	37	11	4661423	4661423	+	Missense_Mutation	SNP	C	C	T	rs374266379		TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr11:4661423C>T	ENST00000357605.2	+	1	479	c.403C>T	c.(403-405)Cgc>Tgc	p.R135C		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCTTTTGACCGCTTTGTGGC	0.542																																						uc010qyk.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(403-405)Cgc>Tgc		Homo sapiens olfactory receptor, family 51, subfamily D, member 1 (OR51D1), mRNA.		C	CYS/ARG	1,4401	2.1+/-5.4	0,1,2200	137.0	113.0	121.0		403	4.4	1.0	11		121	0,8596		0,0,4298	no	missense	OR51D1	NM_001004751.2	180	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	135/325	4661423	1,12997	2201	4298	6499	SO:0001583	missense	390038				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4661423C>T	AB065855	CCDS31357.1	11p15.4	2012-08-09			ENSG00000197428	ENSG00000197428		"""GPCR / Class A : Olfactory receptors"""	15193	protein-coding gene	gene with protein product							Standard	NM_001004751		Approved	OR51D1Q	uc010qyk.2	Q8NGF3	OTTHUMG00000165724	ENST00000357605.2:c.403C>T	11.37:g.4661423C>T	ENSP00000350222:p.Arg135Cys						p.R135C	NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	479	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	135					B9EIK4	Missense_Mutation	SNP	ENST00000357605.2	37	c.403C>T	CCDS31357.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.653944	0.67472	2.27E-4	0.0	ENSG00000197428	ENST00000357605	T	0.77358	-1.09	4.43	4.43	0.53597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45606	D	0.000349	D	0.90497	0.7023	M	0.92367	3.3	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.92878	0.6320	10	0.87932	D	0	.	16.1398	0.81515	0.0:1.0:0.0:0.0	.	135	Q8NGF3	O51D1_HUMAN	C	135	ENSP00000350222:R135C	ENSP00000350222:R135C	R	+	1	0	OR51D1	4617999	0.986000	0.35501	1.000000	0.80357	0.879000	0.50718	1.741000	0.38238	2.433000	0.82419	0.563000	0.77884	CGC		0.542	OR51D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385956.1	NM_001004751	
RBMXL2	27288	broad.mit.edu	37	11	7110545	7110545	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr11:7110545C>T	ENST00000306904.5	+	1	381	c.194C>T	c.(193-195)gCc>gTc	p.A65V		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	65	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCCAAGGCCGCCGCCAGAGAC	0.647																																						uc001mfc.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(193-195)gCc>gTc		Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA.							24.0	22.0	23.0					11																	7110545		2198	4295	6493	SO:0001583	missense	27288					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr11:7110545C>T	AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"""RNA binding motif (RRM) containing"""	17886	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G T"""	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.194C>T	11.37:g.7110545C>T	ENSP00000304139:p.Ala65Val						p.A65V	NM_014469	NP_055284	O75526	HNRGT_HUMAN		Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	0	381	+			65			RRM.		Q6PEZ2|Q9NQU0	Missense_Mutation	SNP	ENST00000306904.5	37	c.194C>T	CCDS7777.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360590	0.82353	.	.	ENSG00000170748	ENST00000306904	D	0.87412	-2.25	2.51	2.51	0.30379	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	U	0.000000	D	0.89649	0.6776	M	0.79805	2.47	0.80722	D	1	P	0.39391	0.671	P	0.48368	0.575	D	0.90735	0.4645	10	0.72032	D	0.01	.	11.1558	0.48486	0.0:1.0:0.0:0.0	.	65	O75526	HNRGT_HUMAN	V	65	ENSP00000304139:A65V	ENSP00000304139:A65V	A	+	2	0	RBMXL2	7067121	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	5.502000	0.66956	1.681000	0.50988	0.455000	0.32223	GCC		0.647	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384552.1	NM_014469	
SLC17A6	57084	broad.mit.edu	37	11	22391734	22391734	+	Splice_Site	SNP	G	G	C			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr11:22391734G>C	ENST00000263160.3	+	8	1478	c.1041G>C	c.(1039-1041)aaG>aaC	p.K347N		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	347					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						AAATTAGCAAGGTATGTAAAA	0.279																																						uc001mqk.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						c.e8+1		Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.							52.0	55.0	54.0					11																	22391734		2203	4294	6497	SO:0001630	splice_region_variant	57084				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr11:22391734G>C	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.1041+1G>C	11.37:g.22391734G>C							p.K347_splice	NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN			8	1454	+			347					A6NKS2	Missense_Mutation	SNP	ENST00000263160.3	37	c.1041_splice	CCDS7856.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.199155	0.58126	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	T	0.57752	0.38	5.42	5.42	0.78866	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.44456	0.1294	N	0.25789	0.76	0.80722	D	1	B	0.06786	0.001	B	0.12837	0.008	T	0.21484	-1.0244	10	0.38643	T	0.18	.	19.5581	0.95361	0.0:0.0:1.0:0.0	.	347	Q9P2U8	VGLU2_HUMAN	N	347;235	ENSP00000263160:K347N	ENSP00000263160:K347N	K	+	3	2	SLC17A6	22348310	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.679000	0.68160	2.702000	0.92279	0.591000	0.81541	AAG		0.279	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346	Missense_Mutation
MPEG1	219972	broad.mit.edu	37	11	58978613	58978613	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr11:58978613A>G	ENST00000361050.3	-	1	1811	c.1726T>C	c.(1726-1728)Tat>Cat	p.Y576H		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	576						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				TTGACGCAATAGGACACTTGG	0.602																																						uc001nnu.4																			0				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1726-1728)Tat>Cat		Homo sapiens macrophage expressed 1 (MPEG1), mRNA.							72.0	80.0	77.0					11																	58978613		1937	4134	6071	SO:0001583	missense	219972					integral to membrane		g.chr11:58978613A>G	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"""macrophage expressed gene 1"""	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.1726T>C	11.37:g.58978613A>G	ENSP00000354335:p.Tyr576His						p.Y576H	NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN			0	1882	-		all_epithelial(135;0.125)	576					Q2M1T6|Q8TEF8	Missense_Mutation	SNP	ENST00000361050.3	37	c.1726T>C	CCDS41650.1	.	.	.	.	.	.	.	.	.	.	A	14.68	2.606688	0.46527	.	.	ENSG00000197629	ENST00000361050	T	0.51574	0.7	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.69079	0.3071	M	0.78049	2.395	0.48696	D	0.999695	D	0.89917	1.0	D	0.87578	0.998	T	0.73325	-0.4018	10	0.87932	D	0	-27.7736	13.6608	0.62366	1.0:0.0:0.0:0.0	.	576	Q2M385	MPEG1_HUMAN	H	576	ENSP00000354335:Y576H	ENSP00000354335:Y576H	Y	-	1	0	MPEG1	58735189	1.000000	0.71417	1.000000	0.80357	0.043000	0.13939	6.780000	0.75063	2.212000	0.71576	0.533000	0.62120	TAT		0.602	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396	
KCNJ8	3764	broad.mit.edu	37	12	21918727	21918727	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr12:21918727T>C	ENST00000240662.2	-	3	1550	c.1205A>G	c.(1204-1206)aAt>aGt	p.N402S	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	KCNJ8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	402					defense response to virus (GO:0051607)|heart development (GO:0007507)|kidney development (GO:0001822)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to pH (GO:0009268)|synaptic transmission (GO:0007268)|vasodilation (GO:0042311)	ATP-sensitive potassium channel complex (GO:0008282)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Gliquidone(DB01251)|Glisoxepide(DB01289)|Glyburide(DB01016)|Levosimendan(DB00922)|Phenformin(DB00914)|Thiamylal(DB01154)|Yohimbine(DB01392)	GAGGGAAGAATTGTTCCTTCG	0.408																																						uc001rff.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						c.(1204-1206)aAt>aGt		Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 8 (KCNJ8), mRNA.	Levosimendan(DB00922)						139.0	133.0	135.0					12																	21918727		2203	4300	6503	SO:0001583	missense	3764					voltage-gated potassium channel complex		g.chr12:21918727T>C	BC000544	CCDS8692.1	12p12.1	2011-07-05			ENSG00000121361	ENSG00000121361		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6269	protein-coding gene	gene with protein product		600935				8595887, 16382105	Standard	NM_004982		Approved	Kir6.1	uc001rff.4	Q15842	OTTHUMG00000169093	ENST00000240662.2:c.1205A>G	12.37:g.21918727T>C	ENSP00000240662:p.Asn402Ser						p.N402S	NM_004982	NP_004973	Q15842	IRK8_HUMAN			2	1543	-			402					O00657	Missense_Mutation	SNP	ENST00000240662.2	37	c.1205A>G	CCDS8692.1	.	.	.	.	.	.	.	.	.	.	T	16.20	3.056395	0.55325	.	.	ENSG00000121361	ENST00000240662;ENST00000539350	T	0.78924	-1.22	5.86	5.86	0.93980	.	0.133902	0.64402	D	0.000002	T	0.73628	0.3611	N	0.08118	0	0.58432	D	0.999999	D	0.63880	0.993	D	0.65443	0.935	T	0.70368	-0.4891	10	0.09084	T	0.74	.	16.2669	0.82588	0.0:0.0:0.0:1.0	.	402	Q15842	IRK8_HUMAN	S	402	ENSP00000240662:N402S	ENSP00000240662:N402S	N	-	2	0	KCNJ8	21809994	1.000000	0.71417	1.000000	0.80357	0.213000	0.24496	7.361000	0.79497	2.240000	0.73641	0.533000	0.62120	AAT		0.408	KCNJ8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402226.1	NM_004982	
NTN4	59277	broad.mit.edu	37	12	96052972	96052972	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr12:96052972C>T	ENST00000343702.4	-	10	2225	c.1777G>A	c.(1777-1779)Gag>Aag	p.E593K	NTN4_ENST00000344911.4_Missense_Mutation_p.E556K|NTN4_ENST00000553059.1_Missense_Mutation_p.E570K|PGAM1P5_ENST00000552554.1_RNA|NTN4_ENST00000538383.1_Missense_Mutation_p.E556K	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	593	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668)	basement membrane (GO:0005604)|plasma membrane (GO:0005886)				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CTTATATCCTCATGTCCTGCT	0.368																																						uc001tei.3																			0				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(1777-1779)Gag>Aag		Homo sapiens netrin 4 (NTN4), mRNA.							114.0	107.0	109.0					12																	96052972		2203	4300	6503	SO:0001583	missense	59277				axon guidance	basement membrane|plasma membrane		g.chr12:96052972C>T	AF119916	CCDS9054.1	12q22	2013-03-01			ENSG00000074527	ENSG00000074527		"""Netrins"""	13658	protein-coding gene	gene with protein product	"""beta-netrin"", ""Netrin-4"""	610401				11038171	Standard	NM_021229		Approved		uc001tei.3	Q9HB63	OTTHUMG00000170290	ENST00000343702.4:c.1777G>A	12.37:g.96052972C>T	ENSP00000340998:p.Glu593Lys					NTN4_uc009ztf.3_Missense_Mutation_p.E570K|NTN4_uc009ztg.3_Missense_Mutation_p.E556K	p.E593K	NM_021229	NP_067052	Q9HB63	NET4_HUMAN			9	2226	-			593			NTR.		B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	Missense_Mutation	SNP	ENST00000343702.4	37	c.1777G>A	CCDS9054.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.704692	0.68615	.	.	ENSG00000074527	ENST00000343702;ENST00000344911;ENST00000538383;ENST00000553059	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	5.86	4.98	0.66077	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.278980	0.38837	N	0.001555	T	0.44746	0.1308	M	0.71206	2.165	0.47407	D	0.999411	D;D	0.69078	0.98;0.997	P;D	0.67725	0.814;0.953	T	0.44390	-0.9331	10	0.59425	D	0.04	.	14.9545	0.71101	0.0:0.9318:0.0:0.0682	.	570;593	Q9HB63-2;Q9HB63	.;NET4_HUMAN	K	593;556;556;570	ENSP00000340998:E593K;ENSP00000339436:E556K;ENSP00000444432:E556K;ENSP00000447292:E570K	ENSP00000340998:E593K	E	-	1	0	NTN4	94577103	0.993000	0.37304	0.954000	0.39281	0.470000	0.32858	3.068000	0.50018	1.493000	0.48517	0.650000	0.86243	GAG		0.368	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408372.1	NM_021229	
GLT8D2	83468	broad.mit.edu	37	12	104390581	104390581	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr12:104390581C>T	ENST00000360814.4	-	8	937	c.532G>A	c.(532-534)Gcg>Acg	p.A178T	GLT8D2_ENST00000546436.1_Missense_Mutation_p.A178T|GLT8D2_ENST00000548660.1_Missense_Mutation_p.A178T	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	178						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						AAAGCCGCCGCGTGGCCCAGG	0.478																																						uc001tkh.1																			0				kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(532-534)Gcg>Acg		Homo sapiens glycosyltransferase 8 domain containing 2 (GLT8D2), mRNA.							99.0	102.0	101.0					12																	104390581		2203	4300	6503	SO:0001583	missense	83468					integral to membrane	transferase activity, transferring glycosyl groups	g.chr12:104390581C>T	BC022343	CCDS9096.1	12q23.3	2013-02-22			ENSG00000120820	ENSG00000120820		"""Glycosyltransferase family 8 domain containing"""	24890	protein-coding gene	gene with protein product							Standard	NM_031302		Approved	FLJ31494	uc001tkh.1	Q9H1C3	OTTHUMG00000170120	ENST00000360814.4:c.532G>A	12.37:g.104390581C>T	ENSP00000354053:p.Ala178Thr					GLT8D2_uc001tki.1_Missense_Mutation_p.A178T	p.A178T	NM_031302	NP_112592	Q9H1C3	GL8D2_HUMAN			7	1089	-			178					Q96KA2	Missense_Mutation	SNP	ENST00000360814.4	37	c.532G>A	CCDS9096.1	.	.	.	.	.	.	.	.	.	.	C	31	5.097885	0.94197	.	.	ENSG00000120820	ENST00000360814;ENST00000546436;ENST00000548660	T;T;T	0.42513	0.97;0.97;0.97	5.13	5.13	0.70059	.	0.052669	0.85682	D	0.000000	T	0.57961	0.2089	L	0.49640	1.575	0.80722	D	1	D	0.76494	0.999	P	0.61874	0.895	T	0.59595	-0.7425	10	0.56958	D	0.05	.	18.6084	0.91275	0.0:1.0:0.0:0.0	.	178	Q9H1C3	GL8D2_HUMAN	T	178	ENSP00000354053:A178T;ENSP00000449750:A178T;ENSP00000447450:A178T	ENSP00000354053:A178T	A	-	1	0	GLT8D2	102914711	1.000000	0.71417	0.430000	0.26722	0.784000	0.44337	7.739000	0.84976	2.385000	0.81259	0.563000	0.77884	GCG		0.478	GLT8D2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407371.1	NM_031302	
ACACB	32	broad.mit.edu	37	12	109696853	109696853	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr12:109696853C>T	ENST00000338432.7	+	47	6555	c.6436C>T	c.(6436-6438)Cgg>Tgg	p.R2146W	ACACB_ENST00000377848.3_Missense_Mutation_p.R2146W|ACACB_ENST00000543201.1_Missense_Mutation_p.R812W|ACACB_ENST00000377854.5_Missense_Mutation_p.R2076W			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2146	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GGACTTCAACCGGGAGAAGTT	0.572																																						uc001tob.3																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(6436-6438)Cgg>Tgg		Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	Biotin(DB00121)						169.0	170.0	170.0					12																	109696853		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109696853C>T	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.6436C>T	12.37:g.109696853C>T	ENSP00000341044:p.Arg2146Trp					ACACB_uc001toc.3_Missense_Mutation_p.R2146W|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Missense_Mutation_p.R812W	p.R2146W	NM_001093	NP_001084	O00763	ACACB_HUMAN			46	6555	+			2146			Carboxyltransferase.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.6436C>T	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.509403	0.64522	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000543201	D;D;D;D	0.97888	-4.59;-4.59;-4.59;-4.59	5.07	3.18	0.36537	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.350255	0.31438	N	0.007650	D	0.98701	0.9564	M	0.90814	3.15	0.40491	D	0.980549	D	0.89917	1.0	D	0.68192	0.956	D	0.99751	1.1018	10	0.66056	D	0.02	.	13.7044	0.62629	0.4275:0.5725:0.0:0.0	.	2146	O00763	ACACB_HUMAN	W	2146;2146;2076;1377;812	ENSP00000341044:R2146W;ENSP00000367079:R2146W;ENSP00000367085:R2076W;ENSP00000444075:R812W	ENSP00000341044:R2146W	R	+	1	2	ACACB	108181236	1.000000	0.71417	0.996000	0.52242	0.804000	0.45430	2.986000	0.49370	0.748000	0.32831	-0.397000	0.06425	CGG		0.572	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093	
ACAD10	80724	broad.mit.edu	37	12	112182642	112182642	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr12:112182642G>C	ENST00000313698.4	+	13	2065	c.1910G>C	c.(1909-1911)aGc>aCc	p.S637T	ACAD10_ENST00000455480.2_Missense_Mutation_p.S668T|ACAD10_ENST00000549590.1_Missense_Mutation_p.S637T|ACAD10_ENST00000392636.2_Missense_Mutation_p.S239T|ACAD10_ENST00000413681.3_3'UTR	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	637						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						AGGAGTTATAGCTCCGTTCCA	0.562																																						uc009zvx.3																			0		p.Y667F(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						c.(2002-2004)aGc>aCc		Homo sapiens acyl-CoA dehydrogenase family, member 10 (ACAD10), transcript variant 1, mRNA.							78.0	71.0	73.0					12																	112182642		2203	4300	6503	SO:0001583	missense	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112182642G>C	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.1910G>C	12.37:g.112182642G>C	ENSP00000325137:p.Ser637Thr					ACAD10_uc001tsp.3_Missense_Mutation_p.S637T|ACAD10_uc001tsq.3_Missense_Mutation_p.S637T|ACAD10_uc001tss.1_Non-coding_Transcript	p.S668T	NM_001136538	NP_001130010	Q6JQN1	ACD10_HUMAN			13	2203	+			637					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	ENST00000313698.4	37	c.2003G>C	CCDS31903.1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.865292	0.32977	.	.	ENSG00000111271	ENST00000392636;ENST00000413681;ENST00000549590;ENST00000455480;ENST00000515283;ENST00000313698;ENST00000507683	D;T;D;D	0.96427	-4.01;3.2;-3.59;-3.59	5.42	0.802	0.18686	.	1.592580	0.03031	N	0.152025	D	0.93514	0.7930	L	0.40543	1.245	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.08055	0.001;0.003;0.003	T	0.83235	-0.0061	10	0.46703	T	0.11	.	7.7227	0.28742	0.0:0.3515:0.4474:0.2011	.	668;637;637	G3XAJ0;Q6JQN1;Q6JQN1-2	.;ACD10_HUMAN;.	T	239;637;637;668;30;637;218	ENSP00000376411:S239T;ENSP00000446959:S637T;ENSP00000389813:S668T;ENSP00000325137:S637T	ENSP00000325137:S637T	S	+	2	0	ACAD10	110667025	0.000000	0.05858	0.000000	0.03702	0.355000	0.29361	-0.312000	0.08113	0.158000	0.19367	0.655000	0.94253	AGC		0.562	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247	
NUFIP1	26747	broad.mit.edu	37	13	45554922	45554922	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr13:45554922C>T	ENST00000379161.4	-	3	575	c.529G>A	c.(529-531)Gat>Aat	p.D177N	RP11-321C24.1_ENST00000437748.2_lincRNA	NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	177					box C/D snoRNP assembly (GO:0000492)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA processing (GO:0006396)	cytosolic ribosome (GO:0022626)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|pre-snoRNP complex (GO:0070761)|presynaptic active zone (GO:0048786)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		TCACAGGTATCACAAAAAAAG	0.313																																						uc001uzp.2																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18						c.(529-531)Gat>Aat		Homo sapiens nuclear fragile X mental retardation protein interacting protein 1 (NUFIP1), mRNA.							95.0	98.0	97.0					13																	45554922		2201	4296	6497	SO:0001583	missense	26747				box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding	g.chr13:45554922C>T	AF159548	CCDS9393.1	13q14	2008-02-05			ENSG00000083635	ENSG00000083635			8057	protein-coding gene	gene with protein product		604354				10556305, 10894927	Standard	NM_012345		Approved	NUFIP	uc001uzp.2	Q9UHK0	OTTHUMG00000016842	ENST00000379161.4:c.529G>A	13.37:g.45554922C>T	ENSP00000368459:p.Asp177Asn						p.D177N	NM_012345	NP_036477	Q9UHK0	NUFP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)	2	571	-		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	177					Q8WVM5|Q96SG1	Missense_Mutation	SNP	ENST00000379161.4	37	c.529G>A	CCDS9393.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.758993	0.89843	.	.	ENSG00000083635	ENST00000379161	T	0.53423	0.62	5.21	5.21	0.72293	Zinc finger, C2H2-like (1);Zinc finger, double-stranded RNA binding (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.64918	0.2642	L	0.55481	1.735	0.45330	D	0.998329	D	0.89917	1.0	D	0.91635	0.999	T	0.67237	-0.5721	10	0.72032	D	0.01	-21.9344	16.2389	0.82396	0.0:1.0:0.0:0.0	.	177	Q9UHK0	NUFP1_HUMAN	N	177	ENSP00000368459:D177N	ENSP00000368459:D177N	D	-	1	0	NUFIP1	44452922	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.497000	0.66924	2.438000	0.82558	0.585000	0.79938	GAT		0.313	NUFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044755.2	NM_012345	
ESRRB	2103	broad.mit.edu	37	14	76905790	76905790	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr14:76905790C>T	ENST00000509242.1	+	3	192	c.94C>T	c.(94-96)Cac>Tac	p.H32Y	ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000380887.2_Missense_Mutation_p.H32Y|ESRRB_ENST00000261532.7_Missense_Mutation_p.H32Y|ESRRB_ENST00000556177.1_Missense_Mutation_p.H32Y	NM_004452.3	NP_004443.3	O95718	ERR2_HUMAN	estrogen-related receptor beta	32					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|trophectodermal cell proliferation (GO:0001834)|trophectodermal cellular morphogenesis (GO:0001831)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		TGCCCTCAGCCACCACAGCCC	0.682																																						uc001xsr.3																			0				endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(94-96)Cac>Tac		Homo sapiens estrogen-related receptor beta (ESRRB), mRNA.							26.0	28.0	28.0					14																	76905790		2168	4237	6405	SO:0001583	missense	2103					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr14:76905790C>T	X51417	CCDS9850.1, CCDS9850.2	14q24.3	2013-01-16				ENSG00000119715		"""Nuclear hormone receptors"""	3473	protein-coding gene	gene with protein product		602167	"""deafness, autosomal recessive 35"""	ESRL2, DFNB35		3267207, 9344655, 18179891	Standard	NM_004452		Approved	ERR2, ERRbeta, NR3B2, ERRb	uc001xsr.3	O95718		ENST00000509242.1:c.94C>T	14.37:g.76905790C>T	ENSP00000422488:p.His32Tyr					ESRRB_uc001xso.3_Non-coding_Transcript|ESRRB_uc001xsq.1_Missense_Mutation_p.H32Y	p.H32Y	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0213)	3	465	+			32					A2VDJ2|B6ZGU4|Q5F0P7|Q5F0P8|Q9HCB4	Missense_Mutation	SNP	ENST00000509242.1	37	c.94C>T	CCDS9850.2	.	.	.	.	.	.	.	.	.	.	C	29.6	5.020202	0.93462	.	.	ENSG00000119715	ENST00000512784;ENST00000509242;ENST00000556177;ENST00000380887;ENST00000261532	D;D;D;D;D	0.93019	-3.14;-3.15;-3.12;-3.15;-3.12	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.91452	0.7302	L	0.50333	1.59	0.80722	D	1	B;B	0.21606	0.058;0.058	B;B	0.18871	0.023;0.023	D	0.88392	0.3009	10	0.46703	T	0.11	.	18.5969	0.91232	0.0:1.0:0.0:0.0	.	32;37	Q5F0P7;E7EWD9	.;.	Y	37;32;32;32;32	ENSP00000424992:H37Y;ENSP00000422488:H32Y;ENSP00000451658:H32Y;ENSP00000370270:H32Y;ENSP00000261532:H32Y	ENSP00000261532:H32Y	H	+	1	0	ESRRB	75975543	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.772000	0.85439	2.390000	0.81377	0.655000	0.94253	CAC		0.682	ESRRB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360663.1		
RYR3	6263	broad.mit.edu	37	15	34130561	34130561	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr15:34130561C>T	ENST00000389232.4	+	89	12450	c.12380C>T	c.(12379-12381)gCg>gTg	p.A4127V	RYR3_ENST00000415757.3_Missense_Mutation_p.A4122V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4127					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTAGAAATTGCGGGTGAAGAG	0.483																																						uc001zhi.3																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(12379-12381)gCg>gTg		Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.							144.0	143.0	143.0					15																	34130561		1889	4100	5989	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34130561C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.12380C>T	15.37:g.34130561C>T	ENSP00000373884:p.Ala4127Val					RYR3_uc010bar.3_Missense_Mutation_p.A4122V	p.A4127V	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	88	12450	+		all_lung(180;7.18e-09)	4127					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.12380C>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	0.146	-1.097237	0.01843	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.96619	-4.07	5.8	2.07	0.26955	.	0.644280	0.15045	N	0.283606	D	0.91526	0.7324	L	0.41492	1.28	0.09310	N	1	B;B	0.15141	0.001;0.012	B;B	0.10450	0.002;0.005	T	0.83074	-0.0141	10	0.45353	T	0.12	.	3.025	0.06087	0.3072:0.4573:0.0931:0.1424	.	4122;4127	Q15413-2;Q15413	.;RYR3_HUMAN	V	4127;4123	ENSP00000373884:A4127V	ENSP00000354735:A4123V	A	+	2	0	RYR3	31917853	1.000000	0.71417	0.071000	0.20095	0.022000	0.10575	1.429000	0.34903	0.470000	0.27294	-1.461000	0.01025	GCG		0.483	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
SLC35G3	146861	broad.mit.edu	37	17	33521189	33521189	+	Silent	SNP	A	A	C			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr17:33521189A>C	ENST00000297307.5	-	1	223	c.138T>G	c.(136-138)ggT>ggG	p.G46G	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	46						integral component of membrane (GO:0016021)											GCAGGCCCCCACCCAGCAGGG	0.682																																						uc002hjd.2																			0											c.(136-138)ggT>ggG		Homo sapiens solute carrier family 35, member G3 (SLC35G3), mRNA.							47.0	52.0	50.0					17																	33521189		2203	4299	6502	SO:0001819	synonymous_variant	146861					integral to membrane		g.chr17:33521189A>C	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.138T>G	17.37:g.33521189A>C							p.G46G	NM_152462	NP_689675	Q8N808	AMAC1_HUMAN			0	224	-			46					B9EGE9	Silent	SNP	ENST00000297307.5	37	c.138T>G	CCDS11293.1																																																																																				0.682	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462	
CDC42EP4	23580	broad.mit.edu	37	17	71282053	71282053	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr17:71282053G>A	ENST00000335793.3	-	2	981	c.587C>T	c.(586-588)gCc>gTc	p.A196V	CDC42EP4_ENST00000439510.2_Missense_Mutation_p.A126V|CDC42EP4_ENST00000581014.1_Intron			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	196					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	GTP-Rho binding (GO:0017049)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			CCCGTACGTGGCCTTGGGCAC	0.632																																						uc002jjn.3																			0				cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14						c.(586-588)gCc>gTc		Homo sapiens CDC42 effector protein (Rho GTPase binding) 4 (CDC42EP4), mRNA.							83.0	71.0	75.0					17																	71282053		2203	4300	6503	SO:0001583	missense	23580				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding	g.chr17:71282053G>A	AB042237	CCDS11695.1	17q24-q25	2008-07-18				ENSG00000179604			17147	protein-coding gene	gene with protein product	"""Cdc42 effector protein 4"", ""binder of Rho GTPases 4"""	605468				11035016, 10490598	Standard	NM_012121		Approved	CEP4, KAIA1777, BORG4, MGC3740, MGC17125	uc002jjo.3	Q9H3Q1		ENST00000335793.3:c.587C>T	17.37:g.71282053G>A	ENSP00000338258:p.Ala196Val					CDC42EP4_uc002jjo.3_Missense_Mutation_p.A196V|CDC42EP4_uc002jjp.1_Missense_Mutation_p.A126V|CDC42EP4_uc021ucn.1_Missense_Mutation_p.A196V	p.A196V	NM_012121	NP_036253	Q9H3Q1	BORG4_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)		1	734	-			196					B3KUS7|O95828|Q96FT3	Missense_Mutation	SNP	ENST00000335793.3	37	c.587C>T	CCDS11695.1	.	.	.	.	.	.	.	.	.	.	G	5.596	0.294722	0.10567	.	.	ENSG00000179604	ENST00000335793;ENST00000439510	T;T	0.30714	1.52;1.52	4.5	2.31	0.28768	.	0.548516	0.18085	N	0.152194	T	0.13543	0.0328	N	0.16478	0.41	0.80722	D	1	B;B	0.12013	0.005;0.005	B;B	0.08055	0.003;0.002	T	0.09773	-1.0659	10	0.13470	T	0.59	-16.8599	3.1308	0.06423	0.1051:0.3577:0.3915:0.1458	.	126;196	B3KUS7;Q9H3Q1	.;BORG4_HUMAN	V	196;126	ENSP00000338258:A196V;ENSP00000404270:A126V	ENSP00000338258:A196V	A	-	2	0	CDC42EP4	68793648	0.996000	0.38824	0.973000	0.42090	0.075000	0.17131	0.833000	0.27504	0.866000	0.35629	0.484000	0.47621	GCC		0.632	CDC42EP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441898.1	NM_012121	
EPB41L3	23136	broad.mit.edu	37	18	5428421	5428421	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr18:5428421C>G	ENST00000341928.2	-	9	1296	c.956G>C	c.(955-957)gGt>gCt	p.G319A	EPB41L3_ENST00000540638.2_Missense_Mutation_p.G319A|EPB41L3_ENST00000544123.1_Missense_Mutation_p.G319A|EPB41L3_ENST00000400111.3_Missense_Mutation_p.G319A|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.G319A	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	319	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TATCAACAGACCACTTGCACA	0.393																																						uc002kmt.1																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(955-957)gGt>gCt		Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.							137.0	144.0	141.0					18																	5428421		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5428421C>G	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.956G>C	18.37:g.5428421C>G	ENSP00000343158:p.Gly319Ala					EPB41L3_uc010wzh.1_Missense_Mutation_p.G319A|EPB41L3_uc002kmu.1_Missense_Mutation_p.G319A|EPB41L3_uc010dkq.1_Missense_Mutation_p.G210A|EPB41L3_uc010dks.1_Missense_Mutation_p.G341A	p.G319A	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			8	1042	-			319			FERM.		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.956G>C	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.014671	0.93404	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111	D;D;D;D	0.98120	-4.73;-4.73;-4.73;-4.73	5.18	5.18	0.71444	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.99208	0.9725	H	0.96398	3.815	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	0.998;1.0;0.999;0.99;1.0	D	0.99023	1.0818	10	0.87932	D	0	.	18.6885	0.91574	0.0:1.0:0.0:0.0	.	319;319;210;319;319	F5GX05;Q9Y2J2-3;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;.;E41L3_HUMAN	A	319;210;319;210;319;319	ENSP00000343158:G319A;ENSP00000441174:G319A;ENSP00000341138:G319A;ENSP00000382981:G319A	ENSP00000343158:G319A	G	-	2	0	EPB41L3	5418421	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.772000	0.85439	2.386000	0.81285	0.563000	0.77884	GGT		0.393	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307	
ATCAY	85300	broad.mit.edu	37	19	3907818	3907818	+	Missense_Mutation	SNP	G	G	A	rs199529579		TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr19:3907818G>A	ENST00000450849.2	+	5	912	c.445G>A	c.(445-447)Gcc>Acc	p.A149T	ATCAY_ENST00000398448.3_Missense_Mutation_p.A155T|ATCAY_ENST00000600960.1_Missense_Mutation_p.A149T|ATCAY_ENST00000301260.6_Missense_Mutation_p.A149T	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	149					apoptotic process (GO:0006915)|mitochondrion distribution (GO:0048311)|negative regulation of glutamate metabolic process (GO:2000212)|neuron projection development (GO:0031175)|regulation of protein localization (GO:0032880)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|synapse (GO:0045202)	kinesin binding (GO:0019894)			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		CGGCAGCGCCGCCAACGGGCG	0.642																																						uc010xhz.2																			0				breast(1)|endometrium(2)|kidney(2)|lung(2)	7						c.(463-465)Gcc>Acc		Homo sapiens ataxia, cerebellar, Cayman type (ATCAY), mRNA.		G	THR/ALA	1,4099		0,1,2049	45.0	56.0	52.0		445	2.9	0.8	19		52	2,8386		0,2,4192	no	missense	ATCAY	NM_033064.4	58	0,3,6241	AA,AG,GG		0.0238,0.0244,0.024	benign	149/372	3907818	3,12485	2050	4194	6244	SO:0001583	missense	85300				transport		protein binding	g.chr19:3907818G>A		CCDS45923.1	19p13.3	2014-06-24	2008-07-18		ENSG00000167654	ENSG00000167654			779	protein-coding gene	gene with protein product	"""Cayman ataxia"", ""caytaxin"""	608179				8845847, 14556008	Standard	NM_033064		Approved		uc002lyy.4	Q86WG3	OTTHUMG00000181836	ENST00000450849.2:c.445G>A	19.37:g.3907818G>A	ENSP00000390941:p.Ala149Thr					ATCAY_uc002lyy.4_Missense_Mutation_p.A149T|ATCAY_uc010dts.3_5'Flank	p.A155T			Q86WG3	ATCAY_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)	5	946	+		Hepatocellular(1079;0.137)	149					Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	Missense_Mutation	SNP	ENST00000450849.2	37	c.463G>A	CCDS45923.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.398776	0.25291	2.44E-4	2.38E-4	ENSG00000167654	ENST00000450849;ENST00000301260;ENST00000357694;ENST00000398448;ENST00000539301	T;T;T	0.37058	1.24;1.23;1.22	5.08	2.94	0.34122	.	0.382752	0.29185	N	0.012897	T	0.15609	0.0376	N	0.08118	0	0.28192	N	0.927705	B;B	0.14805	0.011;0.003	B;B	0.15870	0.014;0.005	T	0.12116	-1.0560	10	0.23891	T	0.37	.	5.5941	0.17317	0.3663:0.0:0.6337:0.0	.	155;149	B4DS11;Q86WG3	.;ATCAY_HUMAN	T	149;149;149;155;127	ENSP00000390941:A149T;ENSP00000301260:A149T;ENSP00000381466:A155T	ENSP00000301260:A149T	A	+	1	0	ATCAY	3858818	0.009000	0.17119	0.823000	0.32752	0.484000	0.33280	0.092000	0.15066	1.145000	0.42336	0.638000	0.83543	GCC		0.642	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457872.2		
ZNF536	9745	broad.mit.edu	37	19	30935903	30935903	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr19:30935903C>G	ENST00000355537.3	+	2	1581	c.1434C>G	c.(1432-1434)caC>caG	p.H478Q		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	478					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCATGGCCCACGGCGTCCCGG	0.662																																						uc002nsu.1																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(1432-1434)caC>caG		Homo sapiens zinc finger protein 536 (ZNF536), mRNA.							35.0	38.0	37.0					19																	30935903		2202	4300	6502	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935903C>G		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1434C>G	19.37:g.30935903C>G	ENSP00000347730:p.His478Gln					ZNF536_uc010edd.1_Missense_Mutation_p.H478Q	p.H478Q	NM_014717	NP_055532	O15090	ZN536_HUMAN			1	1572	+	Esophageal squamous(110;0.0834)		478					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.1434C>G	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	4.076	0.011943	0.07912	.	.	ENSG00000198597	ENST00000355537	T	0.08984	3.03	5.53	3.39	0.38822	.	0.165659	0.53938	D	0.000056	T	0.17280	0.0415	L	0.44542	1.39	0.43095	D	0.994777	D;D	0.76494	0.999;0.999	D;D	0.71870	0.975;0.975	T	0.01238	-1.1409	10	0.34782	T	0.22	-34.4709	9.7019	0.40192	0.0:0.7857:0.0:0.2143	.	478;478	A7E228;O15090	.;ZN536_HUMAN	Q	478	ENSP00000347730:H478Q	ENSP00000347730:H478Q	H	+	3	2	ZNF536	35627743	0.993000	0.37304	0.992000	0.48379	0.258000	0.26162	0.563000	0.23547	0.688000	0.31529	-0.140000	0.14226	CAC		0.662	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717	
KMT2B	9757	broad.mit.edu	37	19	36214780	36214780	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr19:36214780C>G	ENST00000222270.7	+	8	3206	c.3206C>G	c.(3205-3207)tCc>tGc	p.S1069C	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.S1069C	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1069					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S1071F(1)									GAGCAGGACTCCCTCCTGCAG	0.716																																						uc021usv.1										"""N, F, Mis"""							"""medulloblastoma, renal"""		1	Substitution - Missense(1)	p.S1071F(1)	NS(1)	NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						c.(3205-3207)tCc>tGc		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.							9.0	12.0	11.0					19																	36214780		1850	4051	5901	SO:0001583	missense	9757				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr19:36214780C>G	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.3206C>G	19.37:g.36214780C>G	ENSP00000222270:p.Ser1069Cys	HNSCC(34;0.089)				MLL2_uc021usu.1_5'UTR	p.S1069C	NM_014727	NP_055542	O14686	MLL2_HUMAN			7	3206	+			831			Pro-rich.		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.3206C>G	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.254920	0.39896	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.85171	-1.95;-1.95	5.97	5.97	0.96955	.	0.159109	0.29956	N	0.010765	D	0.84252	0.5431	N	0.14661	0.345	0.45962	D	0.998783	D	0.69078	0.997	P	0.55667	0.781	D	0.86704	0.1931	10	0.87932	D	0	.	19.1994	0.93704	0.0:1.0:0.0:0.0	.	1069	Q9UMN6	MLL4_HUMAN	C	1069	ENSP00000222270:S1069C;ENSP00000398837:S1069C	ENSP00000222270:S1069C	S	+	2	0	AD000671.1	40906620	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.028000	0.41088	2.837000	0.97791	0.655000	0.94253	TCC		0.716	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727	
MARK4	57787	broad.mit.edu	37	19	45774954	45774954	+	Silent	SNP	G	G	A			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr19:45774954G>A	ENST00000262891.4	+	8	1105	c.774G>A	c.(772-774)ggG>ggA	p.G258G	MARK4_ENST00000300843.4_Silent_p.G258G	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	258	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CCTTCGACGGGCACAACCTCA	0.657																																						uc002pbb.2																			0				NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(772-774)ggG>ggA		Homo sapiens MAP/microtubule affinity-regulating kinase 4 (MARK4), transcript variant 1, mRNA.							47.0	52.0	50.0					19																	45774954		2203	4300	6503	SO:0001819	synonymous_variant	57787				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	g.chr19:45774954G>A	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"""MAP/microtubule affinity-regulating kinase like 1"""	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.774G>A	19.37:g.45774954G>A						MARK4_uc002paz.2_Missense_Mutation_p.G69D|MARK4_uc002pba.2_Silent_p.G258G|MARK4_uc002pbc.1_Silent_p.G124G	p.G258G	NM_001199867	NP_001186796	Q96L34	MARK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	7	1105	+		all_neural(266;0.224)|Ovarian(192;0.231)	258			Protein kinase.		Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Silent	SNP	ENST00000262891.4	37	c.774G>A	CCDS56097.1																																																																																				0.657	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	NM_031417	
SIGLEC6	946	broad.mit.edu	37	19	52034451	52034451	+	Silent	SNP	G	G	A			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr19:52034451G>A	ENST00000425629.3	-	2	544	c.390C>T	c.(388-390)taC>taT	p.Y130Y	SIGLEC6_ENST00000436458.1_Silent_p.Y94Y|SIGLEC6_ENST00000391797.3_Silent_p.Y130Y|SIGLEC6_ENST00000346477.3_Silent_p.Y130Y|SIGLEC6_ENST00000343300.4_Silent_p.Y130Y|SIGLEC6_ENST00000359982.4_Silent_p.Y130Y|SIGLEC6_ENST00000474054.1_5'Flank	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	130					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		ATGTATAACCGTATTTCATCC	0.547																																						uc002pwy.3																			0				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28						c.(388-390)taC>taT		Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.							99.0	102.0	101.0					19																	52034451		2148	4263	6411	SO:0001819	synonymous_variant	946				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		g.chr19:52034451G>A	D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.390C>T	19.37:g.52034451G>A						SIGLEC6_uc002pwz.3_Silent_p.Y130Y|SIGLEC6_uc010ydb.2_Silent_p.Y94Y|SIGLEC6_uc010ydc.2_Silent_p.Y130Y|SIGLEC6_uc002pxa.3_Silent_p.Y130Y|SIGLEC6_uc010eoz.2_Silent_p.Y130Y|SIGLEC6_uc010epa.2_Silent_p.Y119Y|SIGLEC6_uc010epb.2_Silent_p.Y83Y	p.Y130Y	NM_001245	NP_001236	O43699	SIGL6_HUMAN		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)	1	598	-		all_neural(266;0.0199)	130					A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Silent	SNP	ENST00000425629.3	37	c.390C>T	CCDS12834.3																																																																																				0.547	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245	
HS1BP3	64342	broad.mit.edu	37	2	20840922	20840922	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr2:20840922C>A	ENST00000304031.3	-	3	242	c.217G>T	c.(217-219)Gag>Tag	p.E73*	HS1BP3_ENST00000402541.1_Nonsense_Mutation_p.E73*|HS1BP3_ENST00000406618.3_Nonsense_Mutation_p.E73*	NM_022460.3	NP_071905.3	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	73	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.						phosphatidylinositol binding (GO:0035091)			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCTCAATCTCGCTGTACTTT	0.547																																						uc002rdw.1																			0				endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15						c.(217-219)Gag>Tag		Homo sapiens HCLS1 binding protein 3 (HS1BP3), mRNA.							150.0	150.0	150.0					2																	20840922		2203	4300	6503	SO:0001587	stop_gained	64342				cell communication		phosphatidylinositol binding	g.chr2:20840922C>A		CCDS1700.1	2p24.1	2006-08-15			ENSG00000118960	ENSG00000118960			24979	protein-coding gene	gene with protein product		609359				10590261, 15699368	Standard	NM_022460		Approved	HS1-BP3,FLJ14249	uc002rdw.1	Q53T59	OTTHUMG00000122099	ENST00000304031.3:c.217G>T	2.37:g.20840922C>A	ENSP00000305193:p.Glu73*					HS1BP3_uc002rdx.3_Nonsense_Mutation_p.E73*|HS1BP3_uc002rdy.3_Nonsense_Mutation_p.E73*	p.E73*	NM_022460	NP_071905	Q53T59	H1BP3_HUMAN			2	258	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		73			PX.		B2RAW2|D6W529|Q86VC2|Q8N367	Nonsense_Mutation	SNP	ENST00000304031.3	37	c.217G>T	CCDS1700.1	.	.	.	.	.	.	.	.	.	.	C	36	5.780995	0.96929	.	.	ENSG00000118960	ENST00000304031;ENST00000402541;ENST00000406618	.	.	.	4.79	4.79	0.61399	.	0.071003	0.53938	D	0.000046	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-16.771	17.8666	0.88796	0.0:1.0:0.0:0.0	.	.	.	.	X	73	.	ENSP00000305193:E73X	E	-	1	0	HS1BP3	20704403	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.463000	0.73530	2.210000	0.71456	0.561000	0.74099	GAG		0.547	HS1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242863.1	NM_022460	
SLC4A10	57282	broad.mit.edu	37	2	162804208	162804208	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr2:162804208T>C	ENST00000446997.1	+	17	2329	c.2236T>C	c.(2236-2238)Ttc>Ctc	p.F746L	SLC4A10_ENST00000272716.5_Missense_Mutation_p.F716L|SLC4A10_ENST00000415876.2_Missense_Mutation_p.F716L|SLC4A10_ENST00000375514.5_Missense_Mutation_p.F727L|SLC4A10_ENST00000421911.1_Missense_Mutation_p.F746L	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	746					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	CCTGAAGCAGTTCAAGACTAG	0.383																																						uc002ubx.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(2236-2238)Ttc>Ctc		Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.							199.0	192.0	194.0					2																	162804208		1927	4118	6045	SO:0001583	missense	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162804208T>C		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.2236T>C	2.37:g.162804208T>C	ENSP00000393066:p.Phe746Leu					SLC4A10_uc010zcs.2_Missense_Mutation_p.F727L|SLC4A10_uc002uby.4_Missense_Mutation_p.F716L	p.F746L	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN			16	2420	+			746					B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	37	c.2236T>C	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	T	33	5.278345	0.95459	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21	5.62	5.62	0.85841	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88097	0.6345	M	0.77712	2.385	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.995	D;D;D	0.91635	0.999;0.999;0.943	D	0.89351	0.3661	10	0.66056	D	0.02	.	15.8286	0.78733	0.0:0.0:0.0:1.0	.	727;716;746	F8W675;Q6U841-2;Q6U841	.;.;S4A10_HUMAN	L	727;716;716;715;746;746;745	ENSP00000364664:F727L;ENSP00000395797:F716L;ENSP00000272716:F716L;ENSP00000393066:F746L;ENSP00000404486:F746L	ENSP00000272716:F716L	F	+	1	0	SLC4A10	162512454	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.141000	0.66446	0.460000	0.39030	TTC		0.383	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058	
CNBD2	140894	broad.mit.edu	37	20	34572591	34572591	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr20:34572591G>A	ENST00000373973.3	+	6	780	c.607G>A	c.(607-609)Gtc>Atc	p.V203I	CNBD2_ENST00000349339.1_Missense_Mutation_p.V203I|CNBD2_ENST00000538900.1_Missense_Mutation_p.V203I			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	203								p.V203I(1)									GTCCACCATCGTCTGTATGGA	0.527																																						uc002xer.1																			1	Substitution - Missense(1)	p.V203I(2)	endometrium(1)	breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)	18						c.(607-609)Gtc>Atc		Homo sapiens chromosome 20 open reading frame 152 (C20orf152), transcript variant 1, mRNA.							200.0	152.0	168.0					20																	34572591		2203	4300	6503	SO:0001583	missense	140894							g.chr20:34572591G>A	AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 152"", ""cyclic nucleotide (cNMP) binding domain containing 1"""	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.607G>A	20.37:g.34572591G>A	ENSP00000363084:p.Val203Ile					C20orf152_uc002xes.1_Missense_Mutation_p.V203I|C20orf152_uc010gfp.1_Non-coding_Transcript	p.V203I	NM_080834	NP_543024	Q96M20	CT152_HUMAN			5	763	+	Breast(12;0.00631)		203					Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Missense_Mutation	SNP	ENST00000373973.3	37	c.607G>A		.	.	.	.	.	.	.	.	.	.	G	16.88	3.244882	0.59103	.	.	ENSG00000149646	ENST00000373973;ENST00000349339;ENST00000538900	D;D;D	0.92595	-3.07;-3.07;-3.07	4.91	4.91	0.64330	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.64402	D	0.000012	D	0.90511	0.7027	N	0.16790	0.44	0.41113	D	0.985752	D;D	0.64830	0.994;0.992	P;P	0.58391	0.838;0.749	D	0.89720	0.3918	10	0.29301	T	0.29	-28.5302	15.9802	0.80102	0.0:0.0:1.0:0.0	.	203;203	Q96M20;Q96M20-2	CT152_HUMAN;.	I	203	ENSP00000363084:V203I;ENSP00000340954:V203I;ENSP00000442729:V203I	ENSP00000340954:V203I	V	+	1	0	C20orf152	34036005	1.000000	0.71417	0.995000	0.50966	0.384000	0.30261	6.610000	0.74178	2.430000	0.82344	0.655000	0.94253	GTC		0.527	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000078960.2	NM_080834	
FGD5	152273	broad.mit.edu	37	3	14942566	14942566	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr3:14942566delG	ENST00000285046.5	+	9	3372	c.3262delG	c.(3262-3264)gggfs	p.G1088fs	FGD5_ENST00000543601.1_Frame_Shift_Del_p.G847fs|FGD5_ENST00000476851.1_3'UTR	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1088					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CATGGAGCAAGGGGTGAGTGC	0.642																																						uc003bzc.3																			0				NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(3262-3264)gggfs		Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.							101.0	103.0	102.0					3																	14942566		2098	4237	6335	SO:0001589	frameshift_variant	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14942566delG	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.3262delG	3.37:g.14942566delG	ENSP00000285046:p.Gly1088fs					FGD5_uc011avk.2_Frame_Shift_Del_p.G1088fs|FGD5_uc003bzd.3_Frame_Shift_Del_p.G166fs	p.G1088fs	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN			8	3372	+			1088					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Frame_Shift_Del	DEL	ENST00000285046.5	37	c.3262delG	CCDS46767.1																																																																																				0.642	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536	
RPL15	6138	broad.mit.edu	37	3	23959481	23959481	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr3:23959481G>A	ENST00000307839.5	+	2	770	c.131G>A	c.(130-132)cGg>cAg	p.R44Q	NKIRAS1_ENST00000415901.2_5'Flank|RPL15_ENST00000435882.1_Missense_Mutation_p.R44Q|NKIRAS1_ENST00000388759.3_5'Flank|RPL15_ENST00000415719.1_Missense_Mutation_p.R44Q|NKIRAS1_ENST00000443659.2_5'Flank|NKIRAS1_ENST00000425478.2_5'Flank|NKIRAS1_ENST00000412028.1_5'Flank|RPL15_ENST00000354811.5_Missense_Mutation_p.R44Q|RPL15_ENST00000456530.2_Missense_Mutation_p.R44Q|NKIRAS1_ENST00000416026.2_5'Flank|NKIRAS1_ENST00000421515.2_Intron|NKIRAS1_ENST00000437230.1_5'Flank|RPL15_ENST00000413699.1_Missense_Mutation_p.R44Q	NM_001253379.1|NM_001253380.1|NM_002948.3	NP_001240308.1|NP_001240309.1|NP_002939.2	P61313	RL15_HUMAN	ribosomal protein L15	44					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7						CGCCCCACCCGGCCTGATAAA	0.557																																						uc003ccr.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7						c.(130-132)cGg>cAg		Homo sapiens ribosomal protein L15 (RPL15), transcript variant 2, mRNA.							29.0	33.0	31.0					3																	23959481		2202	4297	6499	SO:0001583	missense	6138				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome	g.chr3:23959481G>A	AB007173	CCDS2640.1, CCDS58818.1	3p24.1	2011-04-06			ENSG00000174748	ENSG00000174748		"""L ribosomal proteins"""	10306	protein-coding gene	gene with protein product		604174				9582194	Standard	NM_002948		Approved	RPL10, RPLY10, RPYL10, EC45, L15	uc003ccp.3	P61313	OTTHUMG00000130485	ENST00000307839.5:c.131G>A	3.37:g.23959481G>A	ENSP00000309334:p.Arg44Gln					NKIRAS1_uc003cck.3_Intron|NKIRAS1_uc003ccj.3_5'Flank|RPL15_uc011awi.2_Missense_Mutation_p.R44Q|RPL15_uc011awj.2_Missense_Mutation_p.R44Q|RPL15_uc003ccn.3_Missense_Mutation_p.R44Q|RPL15_uc003cco.3_Missense_Mutation_p.R44Q|RPL15_uc003ccp.3_Missense_Mutation_p.R44Q|RPL15_uc003ccq.3_Missense_Mutation_p.R44Q|RPL15_uc021wub.1_Missense_Mutation_p.R44Q	p.R44Q	NM_001253379	NP_001240308	P61313	RL15_HUMAN			1	524	+			44					P39030|P41051|Q5U0C0|Q642I1|Q6IPX6|Q8WYP2|Q96C44|Q9H2E5	Missense_Mutation	SNP	ENST00000307839.5	37	c.131G>A	CCDS2640.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.629562	0.67015	.	.	ENSG00000174748	ENST00000307839;ENST00000422218;ENST00000434031;ENST00000413699;ENST00000456530;ENST00000412097;ENST00000510788;ENST00000435882;ENST00000415719;ENST00000354811	.	.	.	5.77	4.9	0.64082	Ribosomal protein L23/L15e (1);	0.000000	0.64402	U	0.000001	T	0.75583	0.3869	H	0.98238	4.18	0.58432	D	0.999999	B;B;P;B	0.47350	0.013;0.132;0.894;0.189	B;B;B;B	0.39027	0.057;0.084;0.288;0.155	D	0.84937	0.0863	9	0.72032	D	0.01	.	14.7898	0.69830	0.0688:0.0:0.9311:0.0	.	44;44;44;44	B4DEN1;B4DLP4;Q642I1;P61313	.;.;.;RL15_HUMAN	Q	44	.	ENSP00000309334:R44Q	R	+	2	0	RPL15	23934485	1.000000	0.71417	1.000000	0.80357	0.022000	0.10575	9.805000	0.99149	1.451000	0.47736	-0.142000	0.14014	CGG		0.557	RPL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252885.3	NM_002948	
TRAT1	50852	broad.mit.edu	37	3	108568057	108568057	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr3:108568057G>T	ENST00000295756.6	+	5	489	c.259G>T	c.(259-261)Gag>Tag	p.E87*	TRAT1_ENST00000426646.1_Nonsense_Mutation_p.E50*	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	87					cellular defense response (GO:0006968)|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)|negative regulation of receptor recycling (GO:0001920)|negative regulation of transport (GO:0051051)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell receptor signaling pathway (GO:0050862)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						AGCCCGACCAGAGAAATCTGT	0.353																																						uc003dxi.1																			0		p.P86R(1)|p.E87D(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						c.(259-261)Gag>Tag		Homo sapiens T cell receptor associated transmembrane adaptor 1 (TRAT1), mRNA.							82.0	82.0	82.0					3																	108568057		2203	4300	6503	SO:0001587	stop_gained	50852				cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr3:108568057G>T	AJ240084	CCDS33813.1	3q13	2005-05-04	2005-05-04	2005-05-04	ENSG00000163519	ENSG00000163519			30698	protein-coding gene	gene with protein product		604962	"""T cell receptor interacting molecule"""	TCRIM		10663578, 9687533	Standard	NM_016388		Approved	HSPC062, TRIM	uc003dxi.1	Q6PIZ9	OTTHUMG00000159198	ENST00000295756.6:c.259G>T	3.37:g.108568057G>T	ENSP00000295756:p.Glu87*					TRAT1_uc010hpx.1_Nonsense_Mutation_p.E50*	p.E87*	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN			4	403	+			87					Q9NZX5	Nonsense_Mutation	SNP	ENST00000295756.6	37	c.259G>T	CCDS33813.1	.	.	.	.	.	.	.	.	.	.	G	38	6.647658	0.97730	.	.	ENSG00000163519	ENST00000295756;ENST00000426646	.	.	.	5.3	0.797	0.18654	.	0.963342	0.08556	N	0.928268	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-27.1728	9.1267	0.36818	0.089:0.5458:0.3652:0.0	.	.	.	.	X	87;50	.	ENSP00000295756:E87X	E	+	1	0	TRAT1	110050747	0.840000	0.29493	0.788000	0.31933	0.917000	0.54804	0.562000	0.23531	0.209000	0.20645	0.557000	0.71058	GAG		0.353	TRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353794.1	NM_016388	
UROC1	131669	broad.mit.edu	37	3	126236443	126236443	+	Silent	SNP	C	C	T			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr3:126236443C>T	ENST00000290868.2	-	1	173	c.120G>A	c.(118-120)gaG>gaA	p.E40E	UROC1_ENST00000383579.3_Silent_p.E40E	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	40					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		TTACCTGTTTCTCCACAGGGC	0.677																																						uc010hsi.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39						c.(118-120)gaG>gaA		Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA.							28.0	30.0	29.0					3																	126236443		2199	4286	6485	SO:0001819	synonymous_variant	131669				histidine catabolic process	cytosol	urocanate hydratase activity	g.chr3:126236443C>T	AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"""urocanase 1"""	613012	"""urocanase domain containing 1"""			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.120G>A	3.37:g.126236443C>T						UROC1_uc003eiz.2_Silent_p.E40E	p.E40E	NM_001165974	NP_001159446	Q96N76	HUTU_HUMAN		GBM - Glioblastoma multiforme(114;0.17)	0	174	-			40					E9PE13|Q14C64|Q68CJ7	Silent	SNP	ENST00000290868.2	37	c.120G>A	CCDS3038.1																																																																																				0.677	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639	
CLCN2	1181	broad.mit.edu	37	3	184071135	184071135	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr3:184071135C>T	ENST00000265593.4	-	17	2102	c.1931G>A	c.(1930-1932)cGc>cAc	p.R644H	CLCN2_ENST00000457512.1_Missense_Mutation_p.R644H|CLCN2_ENST00000344937.7_Missense_Mutation_p.R627H|CLCN2_ENST00000434054.2_Missense_Mutation_p.R600H|CLCN2_ENST00000423355.2_3'UTR|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000475279.1_5'Flank	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	644			R -> C (no effect; dbSNP:rs148545588). {ECO:0000269|PubMed:19191339}.		cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)	p.A643>?(2)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	CTGCCGCCGGCGGGCTGGGCT	0.627																																						uc003foi.3																			2	Complex(2)	p.A643>?(4)	central_nervous_system(2)	breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1930-1932)cGc>cAc		Homo sapiens chloride channel 2 (CLCN2), transcript variant 1, mRNA.	Lubiprostone(DB01046)						37.0	41.0	40.0					3																	184071135		2202	4300	6502	SO:0001583	missense	1181					chloride channel complex	voltage-gated chloride channel activity	g.chr3:184071135C>T	S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"""Ion channels / Chloride channels : Voltage-sensitive"""	2020	protein-coding gene	gene with protein product		600570	"""chloride channel 2"""			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.1931G>A	3.37:g.184071135C>T	ENSP00000265593:p.Arg644His					CLCN2_uc003foh.3_Missense_Mutation_p.R168H|CLCN2_uc010hya.2_Missense_Mutation_p.R627H|CLCN2_uc011brl.2_Missense_Mutation_p.R644H|CLCN2_uc011brm.2_Missense_Mutation_p.R600H	p.R644H	NM_004366	NP_004357	P51788	CLCN2_HUMAN	Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		16	2055	-	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		644		R -> C (no effect).			B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP	ENST00000265593.4	37	c.1931G>A	CCDS3263.1	.	.	.	.	.	.	.	.	.	.	c	32	5.117080	0.94385	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512	D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38	5.62	4.75	0.60458	.	0.051901	0.85682	D	0.000000	D	0.94417	0.8204	M	0.82823	2.61	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	0.91635	0.999;0.999;0.995;0.999;0.988	D	0.94940	0.8090	10	0.72032	D	0.01	-20.1972	14.1579	0.65428	0.0:0.9272:0.0:0.0728	.	600;644;627;644;600	E9PBD9;E9PCD2;P51788-3;P51788;B4DZ58	.;.;.;CLCN2_HUMAN;.	H	644;627;600;644	ENSP00000265593:R644H;ENSP00000345056:R627H;ENSP00000400425:R600H;ENSP00000391928:R644H	ENSP00000265593:R644H	R	-	2	0	CLCN2	185553829	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.405000	0.80007	1.386000	0.46466	0.563000	0.77884	CGC		0.627	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1		
LPP	4026	broad.mit.edu	37	3	188327129	188327129	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr3:188327129C>T	ENST00000312675.4	+	6	856	c.610C>T	c.(610-612)Cag>Tag	p.Q204*	LPP_ENST00000471917.1_3'UTR|LPP_ENST00000543006.1_Nonsense_Mutation_p.Q204*|LPP_ENST00000448637.1_Nonsense_Mutation_p.Q204*	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	204	Pro-rich.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		ACCCCAGCCTCAGCCAGTCCC	0.567			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""																																	uc003frs.2				Dom	yes		3	3q28	4026	T	LIM domain containing preferred translocation partner in lipoma			"""L, M"""	"""HMGA2, MLL, C12orf9"""		"""lipoma, leukemia"""	HMGA2/LPP(161)	0				NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(610-612)Cag>Tag		Homo sapiens LIM domain containing preferred translocation partner in lipoma (LPP), transcript variant 1, mRNA.							95.0	95.0	95.0					3																	188327129		2203	4300	6503	SO:0001587	stop_gained	4026				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	g.chr3:188327129C>T	AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"""LIM domain-containing preferred translocation partner in lipoma"""			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.610C>T	3.37:g.188327129C>T	ENSP00000318089:p.Gln204*					LPP_uc011bsg.2_Nonsense_Mutation_p.Q204*|LPP_uc011bsi.2_Nonsense_Mutation_p.Q204*|LPP_uc003frt.3_Nonsense_Mutation_p.Q204*|LPP_uc011bsj.2_Nonsense_Mutation_p.Q41*	p.Q204*	NM_005578	NP_005569	Q93052	LPP_HUMAN		GBM - Glioblastoma multiforme(93;0.00602)	5	856	+	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)	204			Pro-rich.		A1L4L6|D3DNV6|Q8NFX5	Nonsense_Mutation	SNP	ENST00000312675.4	37	c.610C>T	CCDS3291.1	.	.	.	.	.	.	.	.	.	.	C	34	5.359004	0.95854	.	.	ENSG00000145012	ENST00000448637;ENST00000312675;ENST00000543006;ENST00000415906	.	.	.	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	15.638	0.76970	0.0:1.0:0.0:0.0	.	.	.	.	X	204;204;204;41	.	ENSP00000318089:Q204X	Q	+	1	0	LPP	189809823	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.598000	0.67585	2.779000	0.95612	0.655000	0.94253	CAG		0.567	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578	
ZNF518B	85460	broad.mit.edu	37	4	10445311	10445311	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr4:10445311G>T	ENST00000326756.3	-	3	3080	c.2642C>A	c.(2641-2643)tCc>tAc	p.S881Y		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	881					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						AAGACTTCTGGAAAGCAGTCT	0.403																																						uc003gmn.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						c.(2641-2643)tCc>tAc		Homo sapiens zinc finger protein 518B (ZNF518B), mRNA.							66.0	69.0	68.0					4																	10445311		2203	4300	6503	SO:0001583	missense	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10445311G>T	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.2642C>A	4.37:g.10445311G>T	ENSP00000317614:p.Ser881Tyr					ZNF518B_uc021xme.1_Missense_Mutation_p.S881Y	p.S881Y	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN			2	3129	-			881					Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	c.2642C>A	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	G	7.278	0.608492	0.14002	.	.	ENSG00000178163	ENST00000326756	T	0.01787	4.64	6.02	3.98	0.46160	.	0.669254	0.14134	N	0.339193	T	0.02342	0.0072	L	0.43152	1.355	0.09310	N	1	B	0.19200	0.034	B	0.16722	0.016	T	0.36187	-0.9758	10	0.59425	D	0.04	-10.5344	9.0605	0.36431	0.0759:0.0:0.6623:0.2617	.	881	Q9C0D4	Z518B_HUMAN	Y	881	ENSP00000317614:S881Y	ENSP00000317614:S881Y	S	-	2	0	ZNF518B	10054409	0.951000	0.32395	0.660000	0.29694	0.131000	0.20780	2.433000	0.44793	1.529000	0.49120	0.655000	0.94253	TCC		0.403	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042	
PRDM9	56979	broad.mit.edu	37	5	23527628	23527628	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr5:23527628C>T	ENST00000296682.3	+	11	2613	c.2431C>T	c.(2431-2433)Cgg>Tgg	p.R811W		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	811					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						GGAGTGTGGGCGGGGCTTTAG	0.572										HNSCC(3;0.000094)																												uc003jgo.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.(2431-2433)Cgg>Tgg		Homo sapiens PR domain containing 9 (PRDM9), mRNA.							40.0	50.0	46.0					5																	23527628		2149	4270	6419	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.chr5:23527628C>T	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.2431C>T	5.37:g.23527628C>T	ENSP00000296682:p.Arg811Trp	HNSCC(3;0.000094)					p.R811W	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			10	2613	+			811					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.2431C>T	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	C	3.066	-0.192235	0.06259	.	.	ENSG00000164256	ENST00000296682	T	0.19806	2.12	3.02	1.12	0.20585	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20373	0.0490	M	0.72576	2.205	0.20975	N	0.999817	B	0.22800	0.075	B	0.18561	0.022	T	0.26710	-1.0095	9	0.46703	T	0.11	.	3.8662	0.09018	0.4206:0.4551:0.0:0.1244	.	811	Q9NQV7	PRDM9_HUMAN	W	811	ENSP00000296682:R811W	ENSP00000296682:R811W	R	+	1	2	PRDM9	23563385	0.002000	0.14202	0.775000	0.31657	0.007000	0.05969	1.748000	0.38308	0.307000	0.22880	-0.575000	0.04146	CGG		0.572	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227	
TRIM23	373	broad.mit.edu	37	5	64887666	64887666	+	Missense_Mutation	SNP	A	A	G	rs150920611		TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr5:64887666A>G	ENST00000231524.9	-	11	2026	c.1655T>C	c.(1654-1656)aTg>aCg	p.M552T	TRIM23_ENST00000381018.3_Intron|TRIM23_ENST00000274327.7_Intron	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	552	ARF-like.				GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		ATACAGTCCCATACCACTTCG	0.458																																						uc003jty.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28						c.(1654-1656)aTg>aCg		Homo sapiens tripartite motif containing 23 (TRIM23), transcript variant alpha, mRNA.		A	THR/MET,,	1,4405	2.1+/-5.4	0,1,2202	113.0	104.0	107.0		1655,,	3.2	1.0	5	dbSNP_134	107	0,8600		0,0,4300	no	missense,intron,intron	TRIM23	NM_001656.3,NM_033227.2,NM_033228.2	81,,	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	benign,,	552/575,,	64887666	1,13005	2203	4300	6503	SO:0001583	missense	373				interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:64887666A>G	L04510	CCDS3986.1, CCDS3987.1, CCDS43322.1	5q12.3	2013-01-09	2011-01-25	2004-06-04	ENSG00000113595	ENSG00000113595		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	660	protein-coding gene	gene with protein product		601747	"""ADP-ribosylation factor domain protein 1, 64kDa"", ""tripartite motif-containing 23"""	ARFD1		8473324	Standard	NM_001656		Approved	ARD1, RNF46	uc003jty.3	P36406	OTTHUMG00000097802	ENST00000231524.9:c.1655T>C	5.37:g.64887666A>G	ENSP00000231524:p.Met552Thr					TRIM23_uc003jtw.3_Intron|TRIM23_uc003jtx.3_Intron	p.M552T	NM_001656	NP_001647	P36406	TRI23_HUMAN		Lung(70;0.00473)	10	1741	-		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)	552			ARF-like.		Q9BZY4|Q9BZY5	Missense_Mutation	SNP	ENST00000231524.9	37	c.1655T>C	CCDS3987.1	.	.	.	.	.	.	.	.	.	.	A	0.111	-1.138832	0.01742	2.27E-4	0.0	ENSG00000113595	ENST00000231524	T	0.62232	0.04	5.56	3.19	0.36642	.	0.245877	0.52532	D	0.000078	T	0.28732	0.0712	N	0.01464	-0.85	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.05533	-1.0879	10	0.13470	T	0.59	.	8.5854	0.33655	0.7779:0.0:0.2221:0.0	.	552	P36406	TRI23_HUMAN	T	552	ENSP00000231524:M552T	ENSP00000231524:M552T	M	-	2	0	TRIM23	64923422	1.000000	0.71417	1.000000	0.80357	0.205000	0.24178	4.347000	0.59373	0.930000	0.37217	-0.441000	0.05720	ATG		0.458	TRIM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215058.2	NM_001656	
SLCO6A1	133482	broad.mit.edu	37	5	101834438	101834438	+	Silent	SNP	T	T	C			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr5:101834438T>C	ENST00000506729.1	-	1	282	c.111A>G	c.(109-111)ggA>ggG	p.G37G	SLCO6A1_ENST00000389019.3_Silent_p.G37G|RP11-58B2.1_ENST00000502494.1_RNA|SLCO6A1_ENST00000379810.1_Silent_p.G37G|SLCO6A1_ENST00000513675.1_Silent_p.G37G|SLCO6A1_ENST00000379807.3_Silent_p.G37G|SLCO6A1_ENST00000514551.1_5'Flank			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	37						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		ACTTCGGGGTTCCCTTGGCCC	0.602																																						uc003knn.3																			0		p.G37R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(109-111)ggA>ggG		Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.							111.0	126.0	121.0					5																	101834438		2203	4300	6503	SO:0001819	synonymous_variant	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101834438T>C	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.111A>G	5.37:g.101834438T>C						SLCO6A1_uc003kno.3_Silent_p.G37G|SLCO6A1_uc003knp.3_Silent_p.G37G|SLCO6A1_uc003knq.3_Silent_p.G37G	p.G37G	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	0	283	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	37					A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Silent	SNP	ENST00000506729.1	37	c.111A>G	CCDS34206.1																																																																																				0.602	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488	
PCDHGA2	56113	broad.mit.edu	37	5	140719925	140719925	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr5:140719925G>A	ENST00000394576.2	+	1	1387	c.1387G>A	c.(1387-1389)Gaa>Aaa	p.E463K	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	463	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTACATTCCCGAAAACAACCC	0.562																																						uc003ljk.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1387-1389)Gaa>Aaa		Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.							98.0	109.0	105.0					5																	140719925		2203	4300	6503	SO:0001583	missense	56113				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140719925G>A	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1387G>A	5.37:g.140719925G>A	ENSP00000378077:p.Glu463Lys					PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.E463K	p.E463K	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1572	+			465			Cadherin 5.		Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.1387G>A	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	16.07	3.019215	0.54576	.	.	ENSG00000081853	ENST00000394576	T	0.76316	-1.01	5.3	4.43	0.53597	Cadherin (4);Cadherin-like (1);	0.000000	0.41823	U	0.000818	D	0.93871	0.8039	H	0.99922	4.955	0.36032	D	0.839478	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98470	1.0600	10	0.87932	D	0	.	14.0758	0.64889	0.0738:0.0:0.9262:0.0	.	463;463	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	K	463	ENSP00000378077:E463K	ENSP00000378077:E463K	E	+	1	0	PCDHGA2	140700109	1.000000	0.71417	0.771000	0.31576	0.004000	0.04260	9.799000	0.99117	1.370000	0.46153	-0.150000	0.13652	GAA		0.562	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915	
COL11A2	1302	broad.mit.edu	37	6	33152017	33152017	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr6:33152017C>A	ENST00000341947.2	-	8	1251	c.1024G>T	c.(1024-1026)Ggg>Tgg	p.G342W	COL11A2_ENST00000374712.1_Intron|COL11A2_ENST00000374713.1_Missense_Mutation_p.G295W|COL11A2_ENST00000374714.1_Missense_Mutation_p.G316W|COL11A2_ENST00000357486.1_Missense_Mutation_p.G321W|COL11A2_ENST00000374708.4_Intron|COL11A2_ENST00000361917.1_Intron|COL11A2_ENST00000395197.1_Intron	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	342	Nonhelical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TCGTAGGGCCCTTCAGGGGGG	0.612																																					Melanoma(1;90 116 3946 5341 17093)	uc003ocx.1																			0				biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(1024-1026)Ggg>Tgg		Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.							65.0	66.0	66.0					6																	33152017		2203	4300	6503	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33152017C>A	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000341947.2:c.1024G>T	6.37:g.33152017C>A	ENSP00000339915:p.Gly342Trp					COL11A2_uc003ocy.1_Intron|COL11A2_uc003ocz.1_Intron	p.G342W	NM_080680	NP_542411	P13942	COBA2_HUMAN			7	1252	-			342			Nonhelical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000341947.2	37	c.1024G>T		.	.	.	.	.	.	.	.	.	.	C	16.30	3.085622	0.55861	.	.	ENSG00000204248	ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000457788	D;D;D;D;D	0.90955	-2.41;-2.55;-2.57;-2.39;-2.76	3.74	3.74	0.42951	.	0.552403	0.16544	N	0.209784	D	0.90075	0.6900	L	0.38175	1.15	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.89953	0.4081	10	0.59425	D	0.04	.	11.3108	0.49362	0.0:1.0:0.0:0.0	.	342	P13942	COBA2_HUMAN	W	342;321;316;295;342	ENSP00000339915:G342W;ENSP00000350079:G321W;ENSP00000363846:G316W;ENSP00000363845:G295W;ENSP00000405520:G342W	ENSP00000339915:G342W	G	-	1	0	COL11A2	33259995	0.992000	0.36948	0.998000	0.56505	0.874000	0.50279	2.157000	0.42320	2.360000	0.80028	0.549000	0.68633	GGG		0.612	COL11A2-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			
LYPLA2P1	653639	broad.mit.edu	37	6	33333333	33333333	+	IGR	SNP	G	G	A			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr6:33333333G>A								DAXX (42542 upstream) : KIFC1 (25979 downstream)																							AGTTAGACAGGAGGCAGCAGC	0.577																																																									0																																																	SO:0001628	intergenic_variant	653639							g.chr6:33333333G>A																													6.37:g.33333333G>A						DAXX (42540 upstream) : KIFC1 (25980 downstream)																			Missense_Mutation	SNP		37																																																																																					0	0.577								
LYPLA2P1	653639	broad.mit.edu	37	6	33333342	33333342	+	IGR	SNP	G	G	A	rs368064536		TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr6:33333342G>A								DAXX (42551 upstream) : KIFC1 (25970 downstream)																							GGAGGCAGCAGCTTCTCAAGA	0.562																																																									0																																																	SO:0001628	intergenic_variant	653639							g.chr6:33333342G>A																													6.37:g.33333342G>A						DAXX (42549 upstream) : KIFC1 (25971 downstream)																			Silent	SNP		37																																																																																					0	0.562								
MMS22L	253714	broad.mit.edu	37	6	97702431	97702431	+	Splice_Site	SNP	A	A	C			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr6:97702431A>C	ENST00000275053.4	-	10	1385		c.e10+1		MMS22L_ENST00000369251.2_Splice_Site	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein						double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						ATGAAGTCTTACCATTTCATC	0.313																																						uc003ppb.3																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.e10+1		Homo sapiens MMS22-like, DNA repair protein (MMS22L), mRNA.							65.0	65.0	65.0					6																	97702431		2203	4300	6503	SO:0001630	splice_region_variant	253714				double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding	g.chr6:97702431A>C		CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.1119+1T>G	6.37:g.97702431A>C						MIR548H3_uc021zda.1_Intron|MMS22L_uc011eaf.2_Splice_Site_p.M373_splice|MMS22L_uc010kcn.1_Splice_Site_p.M147_splice|MMS22L_uc003ppc.3_Missense_Mutation_p.V374G	p.M373_splice	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN			10	1385	-			373					D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Splice_Site	SNP	ENST00000275053.4	37	c.1119_splice	CCDS5039.1	.	.	.	.	.	.	.	.	.	.	A	17.62	3.435602	0.62955	.	.	ENSG00000146263	ENST00000275053;ENST00000369251;ENST00000510018;ENST00000482634	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.178	0.59639	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MMS22L	97809152	1.000000	0.71417	0.998000	0.56505	0.878000	0.50629	6.452000	0.73485	1.852000	0.53769	0.533000	0.62120	.		0.313	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468	Intron
RSBN1L	222194	broad.mit.edu	37	7	77408002	77408002	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr7:77408002G>A	ENST00000334955.8	+	8	2085	c.2058G>A	c.(2056-2058)tgG>tgA	p.W686*	RSBN1L_ENST00000445288.1_Nonsense_Mutation_p.W416*	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	686						nucleus (GO:0005634)				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTTTAGCATGGCATATTCGGC	0.388																																						uc010ldt.1																			0				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(2056-2058)tgG>tgA		Homo sapiens round spermatid basic protein 1-like (RSBN1L), mRNA.							154.0	144.0	147.0					7																	77408002		1960	4159	6119	SO:0001587	stop_gained	222194					nucleus		g.chr7:77408002G>A	AK124517	CCDS43607.1	7q21.11	2004-08-11			ENSG00000187257	ENSG00000187257			24765	protein-coding gene	gene with protein product						12477932	Standard	NM_198467		Approved	FLJ42526, FLJ45813, MGC71764	uc010ldt.1	Q6PCB5	OTTHUMG00000155517	ENST00000334955.8:c.2058G>A	7.37:g.77408002G>A	ENSP00000334040:p.Trp686*						p.W686*	NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN			7	2102	+			686					C9K0P1|Q6ZS58|Q6ZVI9|Q86X48	Nonsense_Mutation	SNP	ENST00000334955.8	37	c.2058G>A	CCDS43607.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.435462|5.435462	0.96150|0.96150	.|.	.|.	ENSG00000187257|ENSG00000187257	ENST00000441514|ENST00000334955;ENST00000445288	.|.	.|.	.|.	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.48409|.	0.1498|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.36986|.	-0.9725|.	5|.	0.87932|0.02654	D|T	0|1	-7.0506|-7.0506	20.1466|20.1466	0.98079|0.98079	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	T|X	158|686;416	.|.	ENSP00000405231:A158T|ENSP00000334040:W686X	A|W	+|+	1|3	0|0	RSBN1L|RSBN1L	77245938|77245938	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.938000|0.938000	0.57974|0.57974	9.807000|9.807000	0.99171|0.99171	2.779000|2.779000	0.95612|0.95612	0.591000|0.591000	0.81541|0.81541	GCA|TGG		0.388	RSBN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340455.3	NM_198467	
TSGA13	114960	broad.mit.edu	37	7	130365809	130365809	+	Missense_Mutation	SNP	C	C	T	rs571780213		TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr7:130365809C>T	ENST00000456951.1	-	5	1000	c.149G>A	c.(148-150)cGg>cAg	p.R50Q	TSGA13_ENST00000356588.3_Missense_Mutation_p.R50Q			Q96PP4	TSG13_HUMAN	testis specific, 13	50										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					TGTGTAATGCCGAAGGTTCTC	0.433													C|||	1	0.000199681	0.0	0.0	5008	,	,		21535	0.0		0.0	False		,,,				2504	0.001					uc003vqi.3																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18						c.(148-150)cGg>cAg		Homo sapiens testis specific, 13 (TSGA13), mRNA.							158.0	142.0	147.0					7																	130365809		2203	4300	6503	SO:0001583	missense	114960							g.chr7:130365809C>T	AK093329	CCDS5824.1	7q32	2008-02-04			ENSG00000213265	ENSG00000213265			12369	protein-coding gene	gene with protein product							Standard	NM_052933		Approved		uc003vqi.3	Q96PP4	OTTHUMG00000154999	ENST00000456951.1:c.149G>A	7.37:g.130365809C>T	ENSP00000406047:p.Arg50Gln					TSGA13_uc003vqj.3_Missense_Mutation_p.R50Q	p.R50Q	NM_052933	NP_443165	Q96PP4	TSG13_HUMAN			3	606	-	Melanoma(18;0.0435)		50					B3KSC9	Missense_Mutation	SNP	ENST00000456951.1	37	c.149G>A	CCDS5824.1	.	.	.	.	.	.	.	.	.	.	C	10.59	1.392765	0.25118	.	.	ENSG00000213265	ENST00000456951;ENST00000418126;ENST00000356588;ENST00000443954;ENST00000438346	.	.	.	5.04	-4.69	0.03299	.	2.006330	0.02791	N	0.122085	T	0.27933	0.0688	L	0.27053	0.805	0.09310	N	1	B	0.16396	0.017	B	0.06405	0.002	T	0.18366	-1.0339	9	0.30078	T	0.28	0.516	8.1448	0.31104	0.0:0.5952:0.1405:0.2643	.	50	Q96PP4	TSG13_HUMAN	Q	50	.	ENSP00000348996:R50Q	R	-	2	0	TSGA13	130016349	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-2.920000	0.00694	-0.546000	0.06216	-0.484000	0.04775	CGG		0.433	TSGA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337997.1	NM_052933	
KMT2C	58508	broad.mit.edu	37	7	151962220	151962220	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr7:151962220C>A	ENST00000262189.6	-	8	1305	c.1087G>T	c.(1087-1089)Ggt>Tgt	p.G363C	KMT2C_ENST00000355193.2_Missense_Mutation_p.G363C	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	363					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TAGTGCTGACCACAAGTAGTA	0.448																																						uc003wla.3										N							medulloblastoma		0		p.C362*(1)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365						c.(1087-1089)Ggt>Tgt		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.							332.0	299.0	310.0					7																	151962220		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151962220C>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1087G>T	7.37:g.151962220C>A	ENSP00000262189:p.Gly363Cys						p.G363C	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	7	1306	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	363					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.1087G>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.137088	0.37728	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.98937	-5.25;-5.25	4.65	4.65	0.58169	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.42548	U	0.000694	D	0.98972	0.9650	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99882	1.1115	10	0.87932	D	0	.	17.9157	0.88950	0.0:1.0:0.0:0.0	.	363	Q8NEZ4	MLL3_HUMAN	C	363	ENSP00000262189:G363C;ENSP00000347325:G363C	ENSP00000262189:G363C	G	-	1	0	MLL3	151593153	1.000000	0.71417	1.000000	0.80357	0.133000	0.20885	7.776000	0.85560	2.271000	0.75665	0.557000	0.71058	GGT		0.448	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		
ADAM7	8756	broad.mit.edu	37	8	24339684	24339684	+	Silent	SNP	G	G	A	rs147649440	byFrequency	TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr8:24339684G>A	ENST00000175238.6	+	9	818	c.735G>A	c.(733-735)acG>acA	p.T245T	RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Silent_p.T245T|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000520720.1_Silent_p.T17T	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	245	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TCCATGTGACGTTGGTTGGCA	0.303													G|||	4	0.000798722	0.003	0.0	5008	,	,		18057	0.0		0.0	False		,,,				2504	0.0					uc003xeb.3																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64						c.(733-735)acG>acA		Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.		G		7,4399	11.4+/-27.6	0,7,2196	95.0	92.0	93.0		735	-10.4	0.8	8	dbSNP_134	93	0,8598		0,0,4299	no	coding-synonymous	ADAM7	NM_003817.2		0,7,6495	AA,AG,GG		0.0,0.1589,0.0538		245/755	24339684	7,12997	2203	4299	6502	SO:0001819	synonymous_variant	8756				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24339684G>A	AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.735G>A	8.37:g.24339684G>A						ADAM7_uc003xec.3_Silent_p.T17T	p.T245T	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)	8	848	+		Prostate(55;0.0181)	245			Peptidase M12B.		A8K8X7|O75959|Q6PEJ6	Silent	SNP	ENST00000175238.6	37	c.735G>A	CCDS6045.1																																																																																				0.303	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817	
OPRK1	4986	broad.mit.edu	37	8	54163341	54163341	+	Splice_Site	SNP	C	C	T			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr8:54163341C>T	ENST00000265572.3	-	2	554	c.257G>A	c.(256-258)cGa>cAa	p.R86Q	OPRK1_ENST00000520287.1_Splice_Site_p.R86Q	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	86					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CCGCGCTCACCGGATGATCAC	0.682																																						uc003xrh.1																			0				NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43						c.e1+1		Homo sapiens opioid receptor, kappa 1 (OPRK1), mRNA.	Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)						35.0	30.0	32.0					8																	54163341		2201	4299	6500	SO:0001630	splice_region_variant	4986				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding	g.chr8:54163341C>T		CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"""GPCR / Class A : Opioid receptors"""	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.257+1G>A	8.37:g.54163341C>T						OPRK1_uc022aup.1_Splice_Site|OPRK1_uc003xri.1_Splice_Site_p.R86_splice|OPRK1_uc010lyc.1_Splice_Site	p.R86_splice	NM_000912	NP_000903	P41145	OPRK_HUMAN			1	632	-		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)	86					E5RHC9|Q499G4	Missense_Mutation	SNP	ENST00000265572.3	37	c.257_splice	CCDS6152.1	.	.	.	.	.	.	.	.	.	.	C	36	5.784167	0.96937	.	.	ENSG00000082556	ENST00000265572;ENST00000520287;ENST00000396798	T;T	0.40756	1.02;1.02	5.07	5.07	0.68467	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.67287	0.2877	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.70353	-0.4895	9	.	.	.	.	16.4083	0.83698	0.0:1.0:0.0:0.0	.	86	P41145	OPRK_HUMAN	Q	86;86;72	ENSP00000265572:R86Q;ENSP00000429706:R86Q	.	R	-	2	0	OPRK1	54325894	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.090000	0.76916	2.638000	0.89438	0.462000	0.41574	CGA		0.682	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1		Missense_Mutation
KCNS2	3788	broad.mit.edu	37	8	99441436	99441436	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr8:99441436T>C	ENST00000287042.4	+	2	1579	c.1229T>C	c.(1228-1230)tTc>tCc	p.F410S	KCNS2_ENST00000521839.1_Missense_Mutation_p.F410S	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	410					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			ACCTTGATCTTCAATAAGTTC	0.552																																					Pancreas(138;844 2489 9202 24627)	uc003yin.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31						c.(1228-1230)tTc>tCc		Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 (KCNS2), mRNA.							123.0	118.0	120.0					8																	99441436		2203	4300	6503	SO:0001583	missense	3788					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:99441436T>C	AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.1229T>C	8.37:g.99441436T>C	ENSP00000287042:p.Phe410Ser					KCNS2_uc022azb.1_Missense_Mutation_p.F410S	p.F410S	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0448)		1	1579	+	Breast(36;2.4e-06)		410					A8KAN1	Missense_Mutation	SNP	ENST00000287042.4	37	c.1229T>C	CCDS6279.1	.	.	.	.	.	.	.	.	.	.	T	19.26	3.792900	0.70452	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	D;D	0.97328	-4.34;-4.34	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.97773	0.9269	L	0.49778	1.585	0.58432	D	0.999998	D	0.71674	0.998	D	0.76071	0.987	D	0.98842	1.0755	10	0.87932	D	0	.	16.6288	0.85011	0.0:0.0:0.0:1.0	.	410	Q9ULS6	KCNS2_HUMAN	S	410	ENSP00000287042:F410S;ENSP00000430712:F410S	ENSP00000287042:F410S	F	+	2	0	KCNS2	99510612	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.326000	0.78906	0.533000	0.62120	TTC		0.552	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	NM_020697	
CSMD3	114788	broad.mit.edu	37	8	113256758	113256758	+	Missense_Mutation	SNP	C	C	T	rs376616443		TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr8:113256758C>T	ENST00000297405.5	-	65	10511	c.10267G>A	c.(10267-10269)Gta>Ata	p.V3423I	CSMD3_ENST00000455883.2_Missense_Mutation_p.V3254I|CSMD3_ENST00000343508.3_Missense_Mutation_p.V3383I|CSMD3_ENST00000352409.3_Missense_Mutation_p.V3353I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3423	Sushi 28. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V3423I(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCCATCCCTACGACATTTGCA	0.393										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.3																			1	Substitution - Missense(1)	p.V3423I(2)	central_nervous_system(1)	breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(10267-10269)Gta>Ata		Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.		C	ILE/VAL,ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	129.0	113.0	118.0		9760,10267,10147	4.3	1.0	8		118	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	CSMD3	NM_052900.2,NM_198123.1,NM_198124.1	29,29,29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign,benign	3254/3539,3423/3708,3383/3668	113256758	2,13004	2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113256758C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10267G>A	8.37:g.113256758C>T	ENSP00000297405:p.Val3423Ile	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.3_Missense_Mutation_p.V2625I|CSMD3_uc003ynt.3_Missense_Mutation_p.V3383I|CSMD3_uc011lhx.2_Missense_Mutation_p.V3254I	p.V3423I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			64	10426	-			3423			Sushi 28.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.10267G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.634337	0.29068	2.27E-4	1.16E-4	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11	5.17	4.3	0.51218	Complement control module (2);Sushi/SCR/CCP (3);	0.568868	0.16364	N	0.217639	T	0.52451	0.1735	L	0.40543	1.245	0.30645	N	0.756081	B;B;B	0.30937	0.301;0.175;0.27	B;B;B	0.32465	0.146;0.118;0.065	T	0.50457	-0.8826	10	0.14252	T	0.57	.	13.7914	0.63143	0.0:0.9265:0.0:0.0735	.	3254;3423;3383	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	I	3383;3423;2693;3254;3353	ENSP00000345799:V3383I;ENSP00000297405:V3423I;ENSP00000341558:V2693I;ENSP00000412263:V3254I;ENSP00000343124:V3353I	ENSP00000297405:V3423I	V	-	1	0	CSMD3	113325934	0.962000	0.33011	0.995000	0.50966	0.067000	0.16453	2.337000	0.43947	1.414000	0.47017	0.591000	0.81541	GTA		0.393	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
FER1L6	654463	broad.mit.edu	37	8	125047530	125047530	+	Nonsense_Mutation	SNP	C	C	T	rs553419499		TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr8:125047530C>T	ENST00000522917.1	+	19	2505	c.2299C>T	c.(2299-2301)Cga>Tga	p.R767*	RP11-959I15.4_ENST00000522005.1_RNA|FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Nonsense_Mutation_p.R767*	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	767						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TCCTGGGAAACGACCGGCTGG	0.493																																						uc003yqw.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(2299-2301)Cga>Tga		Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.							85.0	84.0	85.0					8																	125047530		1894	4110	6004	SO:0001587	stop_gained	654463					integral to membrane		g.chr8:125047530C>T	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.2299C>T	8.37:g.125047530C>T	ENSP00000428280:p.Arg767*					FER1L6-AS1_uc003yqx.1_Intron	p.R767*	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		18	2505	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		767						Nonsense_Mutation	SNP	ENST00000522917.1	37	c.2299C>T	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	C	38	6.776182	0.97829	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	.	.	.	4.83	3.93	0.45458	.	0.175369	0.36815	U	0.002394	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4958	0.61426	0.1578:0.8422:0.0:0.0	.	.	.	.	X	767	.	ENSP00000381982:R767X	R	+	1	2	FER1L6	125116711	0.998000	0.40836	0.702000	0.30337	0.084000	0.17831	3.640000	0.54350	1.103000	0.41568	0.563000	0.77884	CGA		0.493	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112	
EPPK1	83481	broad.mit.edu	37	8	144940504	144940504	+	Silent	SNP	G	G	A	rs555448234	byFrequency	TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr8:144940504G>A	ENST00000525985.1	-	2	6989	c.6918C>T	c.(6916-6918)gcC>gcT	p.A2306A				P58107	EPIPL_HUMAN	epiplakin 1	2306						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGCCGGTGACGGCGCGCTCGG	0.701													G|||	3	0.000599042	0.0	0.0	5008	,	,		71205	0.001		0.0	False		,,,				2504	0.002					uc003zaa.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6916-6918)gcC>gcT		Homo sapiens epiplakin 1 (EPPK1), mRNA.							143.0	142.0	142.0					8																	144940504		2182	4262	6444	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940504G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6918C>T	8.37:g.144940504G>A							p.A2306A	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		0	6931	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2306					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.6918C>T																																																																																					0.701	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308	
FRMD3	257019	broad.mit.edu	37	9	85924522	85924522	+	Silent	SNP	T	T	C	rs374785876		TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr9:85924522T>C	ENST00000304195.3	-	10	1061	c.855A>G	c.(853-855)gcA>gcG	p.A285A	FRMD3_ENST00000376438.1_Silent_p.A285A|FRMD3_ENST00000376434.1_Silent_p.A91A	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	285	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						AAGTATGGAATGCCAACATGG	0.333																																						uc004ams.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(853-855)gcA>gcG		Homo sapiens FERM domain containing 3 (FRMD3), transcript variant 1, mRNA.		T		1,3609		0,1,1804	46.0	45.0	45.0		855	-2.0	1.0	9		45	0,8140		0,0,4070	no	coding-synonymous	FRMD3	NM_174938.4		0,1,5874	CC,CT,TT		0.0,0.0277,0.0085		285/598	85924522	1,11749	1805	4070	5875	SO:0001819	synonymous_variant	257019					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr9:85924522T>C	AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.855A>G	9.37:g.85924522T>C						FRMD3_uc004amr.1_Silent_p.A285A|FRMD3_uc022bja.1_Silent_p.A241A|FRMD3_uc022biz.1_Silent_p.A91A	p.A285A	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN			9	1057	-			285			FERM.		A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Silent	SNP	ENST00000304195.3	37	c.855A>G	CCDS43840.1																																																																																				0.333	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157355.1	NM_174938	
CYLC2	1539	broad.mit.edu	37	9	105767700	105767700	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr9:105767700G>T	ENST00000374798.3	+	5	857	c.787G>T	c.(787-789)Gat>Tat	p.D263Y	CYLC2_ENST00000487798.1_Missense_Mutation_p.D263Y	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	263	31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				TGCCAAGAAAGATGCAAAGGA	0.383																																						uc004bbs.2																			0		p.D263D(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41						c.(787-789)Gat>Tat		Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.							117.0	112.0	113.0					9																	105767700		2203	4300	6503	SO:0001583	missense	1539				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:105767700G>T	Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.787G>T	9.37:g.105767700G>T	ENSP00000420256:p.Asp263Tyr						p.D263Y	NM_001340	NP_001331	Q14093	CYLC2_HUMAN			4	857	+		all_hematologic(171;0.125)	263			31 X 3 AA repeats of K-K-X.		B2R8F4|Q5VVJ9	Missense_Mutation	SNP	ENST00000374798.3	37	c.787G>T	CCDS35085.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.741518	0.30865	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.16196	2.36;2.36	4.36	3.47	0.39725	.	1.421110	0.04878	N	0.447237	T	0.29061	0.0722	L	0.29908	0.895	0.22762	N	0.998763	D	0.64830	0.994	P	0.62740	0.906	T	0.23976	-1.0173	10	0.66056	D	0.02	-0.742	8.3686	0.32402	0.1073:0.0:0.8927:0.0	.	263	Q14093	CYLC2_HUMAN	Y	263	ENSP00000420256:D263Y;ENSP00000417674:D263Y	ENSP00000420256:D263Y	D	+	1	0	CYLC2	104807521	0.000000	0.05858	0.127000	0.21898	0.147000	0.21601	0.217000	0.17603	1.202000	0.43218	0.585000	0.79938	GAT		0.383	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3	NM_001340	
MXRA5	25878	broad.mit.edu	37	X	3235658	3235658	+	Missense_Mutation	SNP	C	C	T	rs140532419	byFrequency	TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chrX:3235658C>T	ENST00000217939.6	-	6	6218	c.6064G>A	c.(6064-6066)Gtc>Atc	p.V2022I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2022	Ig-like C2-type 4.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CACTTATAGACGCCTCTGTCT	0.642													C|||	2	0.000529801	0.0015	0.0	3775	,	,		13454	0.0		0.0	False		,,,				2504	0.0					uc004crg.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(6064-6066)Gtc>Atc		Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.		T	ILE/VAL	9,3826		0,9,1623,571	35.0	30.0	32.0		6064	3.5	0.9	X	dbSNP_134	32	0,6728		0,0,2428,1872	no	missense	MXRA5	NM_015419.3	29	0,9,4051,2443	TT,TC,CC,C		0.0,0.2347,0.0852	possibly-damaging	2022/2829	3235658	9,10554	2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3235658C>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.6064G>A	X.37:g.3235658C>T	ENSP00000217939:p.Val2022Ile						p.V2022I	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			5	6221	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2022			Ig-like C2-type 4.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.6064G>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	c	13.58	2.280124	0.40294	0.002347	0.0	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.66638	-0.22	3.54	3.54	0.40534	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.32161	U	0.006488	T	0.50684	0.1630	N	0.05487	-0.04	0.25196	N	0.990095	P	0.47962	0.903	P	0.50082	0.63	T	0.39800	-0.9596	10	0.27785	T	0.31	.	8.9933	0.36037	0.0:0.8923:0.0:0.1077	.	2022	Q9NR99	MXRA5_HUMAN	I	2022	ENSP00000217939:V2022I	ENSP00000217939:V2022I	V	-	1	0	MXRA5	3245658	0.992000	0.36948	0.874000	0.34290	0.964000	0.63967	2.908000	0.48750	1.396000	0.46663	0.540000	0.68198	GTC		0.642	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419	
