#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
EPHA10	284656	broad.mit.edu	37	1	38192843	38192843	+	Missense_Mutation	SNP	A	A	G			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr1:38192843A>G	ENST00000373048.4	-	8	1702	c.1703T>C	c.(1702-1704)gTc>gCc	p.V568A	EPHA10_ENST00000540011.1_Missense_Mutation_p.V63A|EPHA10_ENST00000330210.7_Missense_Mutation_p.V63A|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Missense_Mutation_p.V568A	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	568					ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CACTACGGTGACGACAATGGC	0.642																																						ENST00000373048.4																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1702-1704)gTc>gCc		EPH receptor A10							54.0	69.0	64.0					1																	38192843		2068	4198	6266	SO:0001583	missense	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38192843A>G	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.1703T>C	1.37:g.38192843A>G	ENSP00000362139:p.Val568Ala					EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Missense_Mutation_p.V568A|EPHA10_ENST00000540011.1_Missense_Mutation_p.V63A|EPHA10_ENST00000330210.7_Missense_Mutation_p.V63A	p.V568A	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN			8	1702	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	568					A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	c.1703T>C	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	A	13.82	2.351948	0.41700	.	.	ENSG00000183317	ENST00000330210;ENST00000427468;ENST00000540011;ENST00000373048	T;T;T;T	0.12879	2.64;2.64;2.64;2.64	4.75	3.6	0.41247	.	0.193433	0.25456	N	0.030553	T	0.15089	0.0364	M	0.68952	2.095	0.22896	N	0.998595	B	0.06786	0.001	B	0.06405	0.002	T	0.10660	-1.0620	10	0.54805	T	0.06	.	8.0763	0.30718	0.8953:0.0:0.1047:0.0	.	568	Q5JZY3	EPHAA_HUMAN	A	63;568;63;568	ENSP00000330379:V63A;ENSP00000397746:V568A;ENSP00000441822:V63A;ENSP00000362139:V568A	ENSP00000330379:V63A	V	-	2	0	EPHA10	37965430	1.000000	0.71417	0.997000	0.53966	0.879000	0.50718	4.741000	0.62095	1.997000	0.58415	0.379000	0.24179	GTC		0.642	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		3	23	3	23	---	---	---	---
FAM151A	338094	broad.mit.edu	37	1	55075174	55075174	+	Missense_Mutation	SNP	A	A	G			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr1:55075174A>G	ENST00000302250.2	-	8	1685	c.1525T>C	c.(1525-1527)Tcc>Ccc	p.S509P	ACOT11_ENST00000371316.3_Intron|ACOT11_ENST00000343744.2_3'UTR|ACOT11_ENST00000481208.1_3'UTR|FAM151A_ENST00000371304.2_Missense_Mutation_p.S322P	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	509						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						ATCTGGAAGGACACAGGTTGC	0.632																																						ENST00000302250.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(1525-1527)Tcc>Ccc		family with sequence similarity 151, member A							73.0	73.0	73.0					1																	55075174		2203	4300	6503	SO:0001583	missense	338094					integral to membrane		g.chr1:55075174A>G	AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 179"""	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.1525T>C	1.37:g.55075174A>G	ENSP00000306888:p.Ser509Pro					FAM151A_ENST00000371304.2_Missense_Mutation_p.S322P|ACOT11_ENST00000343744.2_3'UTR|ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000371316.3_Intron	p.S509P	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN			8	1685	-			509					Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Missense_Mutation	SNP	ENST00000302250.2	37	c.1525T>C	CCDS594.1	.	.	.	.	.	.	.	.	.	.	A	19.74	3.883010	0.72410	.	.	ENSG00000162391	ENST00000302250;ENST00000294370	T	0.11712	2.75	4.17	4.17	0.49024	.	0.000000	0.64402	D	0.000002	T	0.29882	0.0747	M	0.74881	2.28	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.01639	-1.1306	10	0.34782	T	0.22	-37.4534	11.8376	0.52336	1.0:0.0:0.0:0.0	.	509	Q8WW52	F151A_HUMAN	P	509;322	ENSP00000306888:S509P	ENSP00000294370:S322P	S	-	1	0	FAM151A	54847762	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.721000	0.68477	2.108000	0.64289	0.533000	0.62120	TCC		0.632	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027342.1	NM_176782		21	103	21	103	---	---	---	---
CCT4	10575	broad.mit.edu	37	2	62099698	62099698	+	Missense_Mutation	SNP	T	T	C			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr2:62099698T>C	ENST00000394440.3	-	11	1447	c.1151A>G	c.(1150-1152)aAa>aGa	p.K384R	AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000461540.2_Intron|CCT4_ENST00000544079.1_Missense_Mutation_p.K354R|CCT4_ENST00000544185.1_Missense_Mutation_p.K234R|CCT4_ENST00000538252.1_Missense_Mutation_p.K328R	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	384					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(6)|ovary(2)	11	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			TGTAACTGTTTTTCCAGGGCT	0.448																																						ENST00000394440.3																			0				breast(1)|large_intestine(2)|lung(6)|ovary(2)	11						c.(1150-1152)aAa>aGa		chaperonin containing TCP1, subunit 4 (delta)							67.0	65.0	65.0					2																	62099698		2203	4300	6503	SO:0001583	missense	10575				'de novo' posttranslational protein folding	melanosome|microtubule organizing center|nucleus	ATP binding|unfolded protein binding	g.chr2:62099698T>C		CCDS33206.1, CCDS58711.1	2p15	2011-09-02			ENSG00000115484	ENSG00000115484		"""Heat Shock Proteins / Chaperonins"""	1617	protein-coding gene	gene with protein product		605142				9819444	Standard	NM_001256721		Approved	Cctd	uc002sbo.4	P50991	OTTHUMG00000152166	ENST00000394440.3:c.1151A>G	2.37:g.62099698T>C	ENSP00000377958:p.Lys384Arg					CCT4_ENST00000544079.1_Missense_Mutation_p.K354R|CCT4_ENST00000538252.1_Missense_Mutation_p.K328R|CCT4_ENST00000461540.2_Intron|CCT4_ENST00000544185.1_Missense_Mutation_p.K234R|AC107081.5_ENST00000425779.1_RNA	p.K384R	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)		11	1447	-	Lung NSC(7;0.035)|all_lung(7;0.0691)		384					B2R6I3|B7Z8B1|F5H5W3|O14870|Q53QP9|Q96C51	Missense_Mutation	SNP	ENST00000394440.3	37	c.1151A>G	CCDS33206.1	.	.	.	.	.	.	.	.	.	.	T	12.30	1.896191	0.33442	.	.	ENSG00000115484	ENST00000394440;ENST00000544079;ENST00000544185;ENST00000538252	T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34	5.87	4.72	0.59763	.	0.041023	0.85682	D	0.000000	T	0.69726	0.3143	L	0.28694	0.88	0.58432	D	0.999996	B;B	0.06786	0.001;0.001	B;B	0.13407	0.009;0.005	T	0.62632	-0.6813	10	0.27785	T	0.31	-15.3401	11.8293	0.52285	0.0:0.0689:0.0:0.9311	.	354;384	F5H5W3;P50991	.;TCPD_HUMAN	R	384;354;234;328	ENSP00000377958:K384R;ENSP00000443061:K354R;ENSP00000443451:K234R;ENSP00000442174:K328R	ENSP00000377958:K384R	K	-	2	0	CCT4	61953202	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.993000	0.63895	1.158000	0.42547	0.533000	0.62120	AAA		0.448	CCT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325548.2			14	42	14	42	---	---	---	---
IGKV2-30	28919	broad.mit.edu	37	2	89544386	89544386	+	RNA	SNP	C	C	G			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr2:89544386C>G	ENST00000468494.1	-	0	267									immunoglobulin kappa variable 2-30																		ACCCCAGAGTCCCGGTTAGAA	0.498																																						ENST00000468494.1																			0																				126.0	123.0	124.0					2																	89544386		1830	4083	5913			28919							g.chr2:89544386C>G	X63403		2p11.2	2012-02-08			ENSG00000243238	ENSG00000243238		"""Immunoglobulins / IGK locus"""	5785	other	immunoglobulin gene							Standard	NG_000834		Approved				OTTHUMG00000151692		2.37:g.89544386C>G														0	267	-									RNA	SNP	ENST00000468494.1	37																																																																																						0.498	IGKV2-30-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323491.1	NG_000834		41	156	41	156	---	---	---	---
COL6A3	1293	broad.mit.edu	37	2	238283426	238283426	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr2:238283426C>T	ENST00000295550.4	-	8	3760	c.3308G>A	c.(3307-3309)gGg>gAg	p.G1103E	COL6A3_ENST00000353578.4_Missense_Mutation_p.G897E|COL6A3_ENST00000346358.4_Missense_Mutation_p.G903E|COL6A3_ENST00000409809.1_Missense_Mutation_p.G897E|COL6A3_ENST00000472056.1_Missense_Mutation_p.G496E|COL6A3_ENST00000347401.3_Missense_Mutation_p.G902E|COL6A3_ENST00000392004.3_Missense_Mutation_p.G897E|COL6A3_ENST00000392003.2_Missense_Mutation_p.G696E	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1103	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGGGGTCGGCCCTCCCAGCAG	0.617																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(3307-3309)gGg>gAg		collagen, type VI, alpha 3							54.0	55.0	55.0					2																	238283426		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238283426C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3308G>A	2.37:g.238283426C>T	ENSP00000295550:p.Gly1103Glu					COL6A3_ENST00000347401.3_Missense_Mutation_p.G902E|COL6A3_ENST00000472056.1_Missense_Mutation_p.G496E|COL6A3_ENST00000392004.3_Missense_Mutation_p.G897E|COL6A3_ENST00000392003.2_Missense_Mutation_p.G696E|COL6A3_ENST00000409809.1_Missense_Mutation_p.G897E|COL6A3_ENST00000346358.4_Missense_Mutation_p.G903E|COL6A3_ENST00000353578.4_Missense_Mutation_p.G897E	p.G1103E	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	8	3760	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1103			Nonhelical region.|VWFA 6.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.3308G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.073269	0.55646	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	T;T;T;T;T;T;T;T	0.61510	0.1;0.1;0.1;0.1;0.1;0.1;0.1;0.1	5.22	4.34	0.51931	von Willebrand factor, type A (3);	0.262720	0.27901	N	0.017389	T	0.78742	0.4331	M	0.88181	2.935	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	1.0;1.0;0.997;1.0;0.989	T	0.82065	-0.0642	10	0.52906	T	0.07	.	13.8331	0.63393	0.0:0.9265:0.0:0.0735	.	496;696;897;897;1103	E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;CO6A3_HUMAN	E	1103;902;897;496;897;903;897;696	ENSP00000295550:G1103E;ENSP00000315609:G902E;ENSP00000315873:G897E;ENSP00000418285:G496E;ENSP00000386844:G897E;ENSP00000295546:G903E;ENSP00000375861:G897E;ENSP00000375860:G696E	ENSP00000295550:G1103E	G	-	2	0	COL6A3	237948165	1.000000	0.71417	0.016000	0.15963	0.139000	0.21198	7.591000	0.82666	1.324000	0.45282	0.655000	0.94253	GGG		0.617	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		15	37	15	37	---	---	---	---
CNTN6	27255	broad.mit.edu	37	3	1367541	1367541	+	Missense_Mutation	SNP	C	C	T	rs150393896		TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr3:1367541C>T	ENST00000446702.2	+	9	1616	c.989C>T	c.(988-990)tCt>tTt	p.S330F	CNTN6_ENST00000539053.1_Missense_Mutation_p.S258F|CNTN6_ENST00000350110.2_Missense_Mutation_p.S330F			Q9UQ52	CNTN6_HUMAN	contactin 6	330	Ig-like C2-type 4.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		ACACACCTCTCTATCTATGAC	0.418																																						ENST00000446702.2																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(988-990)tCt>tTt		contactin 6							122.0	113.0	116.0					3																	1367541		2203	4300	6503	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1367541C>T	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.989C>T	3.37:g.1367541C>T	ENSP00000407822:p.Ser330Phe					CNTN6_ENST00000539053.1_Missense_Mutation_p.S258F|CNTN6_ENST00000350110.2_Missense_Mutation_p.S330F	p.S330F			Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	9	1616	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	330			Ig-like C2-type 4.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.989C>T	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.008739	0.75046	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.69685	-0.42;-0.42;-0.42	5.26	5.26	0.73747	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.000000	0.53938	D	0.000041	T	0.72558	0.3475	N	0.24115	0.695	0.40861	D	0.983834	D	0.76494	0.999	D	0.87578	0.998	T	0.76942	-0.2772	10	0.66056	D	0.02	.	17.0749	0.86583	0.0:1.0:0.0:0.0	.	330	Q9UQ52	CNTN6_HUMAN	F	330;258;330	ENSP00000407822:S330F;ENSP00000442791:S258F;ENSP00000341882:S330F	ENSP00000341882:S330F	S	+	2	0	CNTN6	1342541	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	5.274000	0.65569	2.460000	0.83146	0.650000	0.86243	TCT		0.418	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		12	62	12	62	---	---	---	---
SRGAP3	9901	broad.mit.edu	37	3	9055452	9055452	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr3:9055452C>T	ENST00000383836.3	-	16	2315	c.1888G>A	c.(1888-1890)Gtc>Atc	p.V630I	SRGAP3-AS1_ENST00000414633.1_RNA|SRGAP3_ENST00000360413.3_Missense_Mutation_p.V606I|SRGAP3_ENST00000433332.3_5'Flank	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	630	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TATCTCATGACCACAATGACC	0.557			T	RAF1	pilocytic astrocytoma																																	ENST00000383836.3				Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(6)	0				breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(1888-1890)Gtc>Atc		SLIT-ROBO Rho GTPase activating protein 3							149.0	137.0	141.0					3																	9055452		2203	4300	6503	SO:0001583	missense	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9055452C>T	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.1888G>A	3.37:g.9055452C>T	ENSP00000373347:p.Val630Ile					SRGAP3_ENST00000360413.3_Missense_Mutation_p.V606I	p.V630I	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	16	2315	-			630			Rho-GAP.		Q8IX13|Q8IZV8	Missense_Mutation	SNP	ENST00000383836.3	37	c.1888G>A	CCDS2572.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.613670	0.87359	.	.	ENSG00000196220	ENST00000383836;ENST00000360413	T;T	0.19394	2.15;2.15	5.26	5.26	0.73747	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.35068	0.0919	L	0.40543	1.245	0.80722	D	1	P;P	0.37276	0.589;0.484	P;P	0.53185	0.598;0.72	T	0.02244	-1.1189	10	0.33141	T	0.24	.	18.4861	0.90830	0.0:1.0:0.0:0.0	.	606;630	O43295-2;O43295	.;SRGP2_HUMAN	I	630;606	ENSP00000373347:V630I;ENSP00000353587:V606I	ENSP00000353587:V606I	V	-	1	0	SRGAP3	9030452	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.770000	0.85390	2.465000	0.83290	0.655000	0.94253	GTC		0.557	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			8	42	8	42	---	---	---	---
DNAJC13	23317	broad.mit.edu	37	3	132196704	132196704	+	Missense_Mutation	SNP	T	T	A			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr3:132196704T>A	ENST00000260818.6	+	23	2765	c.2517T>A	c.(2515-2517)gaT>gaA	p.D839E		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	839					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TGGAGGAAGATGAGAATGAAG	0.348																																						ENST00000260818.6																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						c.(2515-2517)gaT>gaA		DnaJ (Hsp40) homolog, subfamily C, member 13							102.0	112.0	108.0					3																	132196704		2203	4299	6502	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132196704T>A	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.2517T>A	3.37:g.132196704T>A	ENSP00000260818:p.Asp839Glu						p.D839E	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN			23	2765	+			839					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.2517T>A	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	T	16.59	3.165253	0.57476	.	.	ENSG00000138246	ENST00000260818	T	0.12465	2.68	5.26	5.26	0.73747	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.12050	0.0293	L	0.27053	0.805	0.58432	D	0.999998	B	0.21452	0.056	B	0.15870	0.014	T	0.04565	-1.0942	10	0.72032	D	0.01	.	15.4676	0.75412	0.0:0.0:0.0:1.0	.	839	O75165	DJC13_HUMAN	E	839	ENSP00000260818:D839E	ENSP00000260818:D839E	D	+	3	2	DNAJC13	133679394	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.333000	0.33816	2.110000	0.64415	0.377000	0.23210	GAT		0.348	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		17	104	17	104	---	---	---	---
ATP8A1	10396	broad.mit.edu	37	4	42576684	42576684	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr4:42576684C>T	ENST00000381668.5	-	14	1478	c.1247G>A	c.(1246-1248)tGc>tAc	p.C416Y	ATP8A1_ENST00000264449.10_Missense_Mutation_p.C416Y	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	416					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	CATTACATTGCATGTCAGAGT	0.308																																						ENST00000381668.5																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(1246-1248)tGc>tAc		ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	Phosphatidylserine(DB00144)						59.0	60.0	60.0					4																	42576684		2203	4299	6502	SO:0001583	missense	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42576684C>T	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.1247G>A	4.37:g.42576684C>T	ENSP00000371084:p.Cys416Tyr					ATP8A1_ENST00000264449.10_Missense_Mutation_p.C416Y	p.C416Y	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN			14	1478	-			416					Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	ENST00000381668.5	37	c.1247G>A	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372695	0.82573	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	T;T	0.74421	-0.84;-0.84	5.53	5.53	0.82687	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.90414	0.6999	H	0.94542	3.55	0.80722	D	1	D;D;D	0.89917	0.98;1.0;0.997	D;D;D	0.81914	0.962;0.995;0.961	D	0.92048	0.5646	10	0.54805	T	0.06	.	19.4736	0.94973	0.0:1.0:0.0:0.0	.	416;416;416	B4DII6;Q32M35;Q9Y2Q0	.;.;AT8A1_HUMAN	Y	416	ENSP00000371084:C416Y;ENSP00000264449:C416Y	ENSP00000264449:C416Y	C	-	2	0	ATP8A1	42271441	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.752000	0.85141	2.596000	0.87737	0.591000	0.81541	TGC		0.308	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		16	81	16	81	---	---	---	---
NAA15	80155	broad.mit.edu	37	4	140297585	140297585	+	Missense_Mutation	SNP	A	A	G			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr4:140297585A>G	ENST00000296543.5	+	16	2337	c.2014A>G	c.(2014-2016)Ata>Gta	p.I672V	NAA15_ENST00000398947.1_Missense_Mutation_p.I672V	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	672	Interaction with HYPK.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GAAGAACAAGATAGAGACTCA	0.333																																						ENST00000296543.5																			0				NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(2014-2016)Ata>Gta		N(alpha)-acetyltransferase 15, NatA auxiliary subunit							113.0	107.0	109.0					4																	140297585		1831	4086	5917	SO:0001583	missense	80155				angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding	g.chr4:140297585A>G	AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.2014A>G	4.37:g.140297585A>G	ENSP00000296543:p.Ile672Val					NAA15_ENST00000398947.1_Missense_Mutation_p.I672V	p.I672V	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN			16	2337	+			672					D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Missense_Mutation	SNP	ENST00000296543.5	37	c.2014A>G	CCDS43270.1	.	.	.	.	.	.	.	.	.	.	A	17.88	3.497662	0.64186	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	T;T	0.44083	0.93;0.93	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.42877	0.1222	L	0.60957	1.885	0.80722	D	1	B	0.17465	0.022	B	0.26969	0.075	T	0.26950	-1.0088	10	0.22706	T	0.39	-19.0649	15.8229	0.78673	1.0:0.0:0.0:0.0	.	672	Q9BXJ9	NAA15_HUMAN	V	672;546;672	ENSP00000296543:I672V;ENSP00000381920:I672V	ENSP00000296543:I672V	I	+	1	0	NAA15	140517035	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.119000	0.77145	2.130000	0.65690	0.477000	0.44152	ATA		0.333	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2	NM_057175		12	45	12	45	---	---	---	---
PCDHA1	56147	broad.mit.edu	37	5	140168038	140168038	+	Silent	SNP	G	G	T			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr5:140168038G>T	ENST00000504120.2	+	1	2163	c.2163G>T	c.(2161-2163)ctG>ctT	p.L721L	PCDHA1_ENST00000378133.3_Silent_p.L721L|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	721					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACGGCGCTGCGGTGCTCAG	0.657																																						ENST00000504120.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(2161-2163)ctG>ctT									53.0	47.0	49.0					5																	140168038		2203	4299	6502	SO:0001819	synonymous_variant	56147							g.chr5:140168038G>T	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.2163G>T	5.37:g.140168038G>T						PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Silent_p.L721L	p.L721L	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2163	+								O75288|Q9NRT7	Silent	SNP	ENST00000504120.2	37	c.2163G>T	CCDS54913.1																																																																																				0.657	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		4	49	4	49	---	---	---	---
RANBP9	10048	broad.mit.edu	37	6	13625976	13625976	+	Silent	SNP	T	T	C			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr6:13625976T>C	ENST00000011619.3	-	13	2026	c.1968A>G	c.(1966-1968)gcA>gcG	p.A656A	RANBP9_ENST00000469916.1_5'UTR|RANBP9_ENST00000539980.1_Silent_p.A427A|NOL7_ENST00000474485.1_Intron	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	656	Interaction with FMR1.				axon guidance (GO:0007411)|microtubule nucleation (GO:0007020)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			GATCTGAATATGCTAGTAGAC	0.388																																						ENST00000011619.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16						c.(1966-1968)gcA>gcG		RAN binding protein 9							166.0	163.0	164.0					6																	13625976		2203	4300	6503	SO:0001819	synonymous_variant	10048				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding	g.chr6:13625976T>C	AB008515	CCDS4529.1	6p23	2010-05-25			ENSG00000010017	ENSG00000010017			13727	protein-coding gene	gene with protein product	"""Ran Binding Protein in the Microtubule organizing center"""	603854				9817760	Standard	NM_005493		Approved	RanBPM	uc003nbb.3	Q96S59	OTTHUMG00000015642	ENST00000011619.3:c.1968A>G	6.37:g.13625976T>C						RANBP9_ENST00000539980.1_Silent_p.A427A|NOL7_ENST00000474485.1_Intron|RANBP9_ENST00000469916.1_5'UTR	p.A656A	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	Epithelial(50;0.223)		13	2026	-	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	656			Interaction with FMR1.		A0PJA2|B2R8E1|O94764|Q6P3T7|Q7LBR2|Q7Z7F9	Silent	SNP	ENST00000011619.3	37	c.1968A>G	CCDS4529.1																																																																																				0.388	RANBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042373.1			26	68	26	68	---	---	---	---
HIST1H3C	8352	broad.mit.edu	37	6	26045770	26045770	+	Silent	SNP	G	G	A			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr6:26045770G>A	ENST00000540144.1	+	1	132	c.132G>A	c.(130-132)ccG>ccA	p.P44P	HIST1H2BB_ENST00000357905.2_5'Flank	NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	44					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						GCTACCGCCCGGGCACCGTGG	0.647																																						ENST00000540144.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						c.(130-132)ccG>ccA		histone cluster 1, H3c							47.0	50.0	49.0					6																	26045770		2203	4300	6503	SO:0001819	synonymous_variant	8352				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26045770G>A	X57128	CCDS4576.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196532	ENSG00000278272		"""Histones / Replication-dependent"""	4768	protein-coding gene	gene with protein product		602812	"""H3 histone family, member C"", ""histone 1, H3c"""	H3FC		8227173, 9119399, 12408966	Standard	NM_003531		Approved	H3/c, H3.1	uc003nfv.3	P68431	OTTHUMG00000014416	ENST00000540144.1:c.132G>A	6.37:g.26045770G>A							p.P44P	NM_003531.2	NP_003522.1	P68431	H31_HUMAN			1	132	+			44					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000540144.1	37	c.132G>A	CCDS4576.1																																																																																				0.647	HIST1H3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040078.1	NM_003531		6	68	6	68	---	---	---	---
CHRM2	1129	broad.mit.edu	37	7	136699850	136699850	+	Missense_Mutation	SNP	T	T	C			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr7:136699850T>C	ENST00000445907.2	+	3	766	c.238T>C	c.(238-240)Tac>Cac	p.Y80H	CHRM2_ENST00000397608.3_Missense_Mutation_p.Y80H|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.Y80H|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.Y80H|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.Y80H|CHRM2_ENST00000320658.5_Missense_Mutation_p.Y80H	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	80					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CATGAACTTGTACACCCTCTA	0.468																																						ENST00000445907.2																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68						c.(238-240)Tac>Cac		cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)						224.0	199.0	208.0					7																	136699850		2203	4300	6503	SO:0001583	missense	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136699850T>C		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.238T>C	7.37:g.136699850T>C	ENSP00000399745:p.Tyr80His					hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.Y80H|CHRM2_ENST00000453373.1_Missense_Mutation_p.Y80H|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.Y80H|CHRM2_ENST00000402486.3_Missense_Mutation_p.Y80H|CHRM2_ENST00000397608.3_Missense_Mutation_p.Y80H|hsa-mir-490_ENST00000592183.1_RNA	p.Y80H	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN			3	766	+			80					Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	c.238T>C	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	T	18.81	3.703045	0.68501	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19;1.19	5.4	5.4	0.78164	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.61085	0.2319	M	0.82433	2.59	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.61232	-0.7104	10	0.21540	T	0.41	-15.2224	15.4806	0.75524	0.0:0.0:0.0:1.0	.	80	P08172	ACM2_HUMAN	H	80	ENSP00000399745:Y80H;ENSP00000415386:Y80H;ENSP00000319984:Y80H;ENSP00000380733:Y80H;ENSP00000384937:Y80H;ENSP00000384401:Y80H	ENSP00000319984:Y80H	Y	+	1	0	CHRM2	136350390	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.959000	0.87885	2.059000	0.61396	0.524000	0.50904	TAC		0.468	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			22	90	22	90	---	---	---	---
ST3GAL1	6482	broad.mit.edu	37	8	134472109	134472109	+	Silent	SNP	C	C	T			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr8:134472109C>T	ENST00000319914.5	-	9	1948	c.921G>A	c.(919-921)gcG>gcA	p.A307A	ST3GAL1_ENST00000522652.1_Silent_p.A307A|ST3GAL1_ENST00000399640.2_Silent_p.A307A|ST3GAL1_ENST00000521180.1_Silent_p.A307A			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	307					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein phosphorylation (GO:0006468)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			GAAAAGCCCCCGCGGATGGGT	0.552																																						ENST00000319914.5																			0				endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17						c.(919-921)gcG>gcA		ST3 beta-galactoside alpha-2,3-sialyltransferase 1							153.0	152.0	152.0					8																	134472109		2203	4300	6503	SO:0001819	synonymous_variant	6482				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr8:134472109C>T	L29555	CCDS6373.1	8q24.22	2013-03-01	2003-01-14	2005-02-07	ENSG00000008513	ENSG00000008513	2.4.99.4	"""Sialyltransferases"""	10862	protein-coding gene	gene with protein product	"""ST3Gal I"""	607187	"""sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase)"""	SIAT4A		10504389, 7655169	Standard	NM_003033		Approved	ST3O, SIATFL, ST3GalA.1	uc003yuk.2	Q11201	OTTHUMG00000164534	ENST00000319914.5:c.921G>A	8.37:g.134472109C>T						ST3GAL1_ENST00000521180.1_Silent_p.A307A|ST3GAL1_ENST00000522652.1_Silent_p.A307A|ST3GAL1_ENST00000399640.2_Silent_p.A307A	p.A307A			Q11201	SIA4A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.00721)		9	1948	-	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		307					O60677|Q9UN51	Silent	SNP	ENST00000319914.5	37	c.921G>A	CCDS6373.1																																																																																				0.552	ST3GAL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379132.1	NM_003033		4	167	4	167	---	---	---	---
PDE6C	5146	broad.mit.edu	37	10	95399905	95399905	+	Silent	SNP	T	T	C			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr10:95399905T>C	ENST00000371447.3	+	12	1699	c.1561T>C	c.(1561-1563)Ttg>Ctg	p.L521L		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	521					phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	AGAGCACGGATTGATTAAATG	0.413																																						ENST00000371447.3																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42						c.(1561-1563)Ttg>Ctg		phosphodiesterase 6C, cGMP-specific, cone, alpha prime							124.0	116.0	119.0					10																	95399905		2203	4300	6503	SO:0001819	synonymous_variant	5146				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	g.chr10:95399905T>C	U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"""Phosphodiesterases"""	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.1561T>C	10.37:g.95399905T>C							p.L521L	NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN			12	1699	+		Colorectal(252;0.123)	521					A6NCR6|Q5VY29	Silent	SNP	ENST00000371447.3	37	c.1561T>C	CCDS7429.1																																																																																				0.413	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049437.1	NM_006204		17	47	17	47	---	---	---	---
TACC2	10579	broad.mit.edu	37	10	123844843	123844843	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr10:123844843C>T	ENST00000369005.1	+	4	3168	c.2828C>T	c.(2827-2829)gCa>gTa	p.A943V	TACC2_ENST00000453444.2_Missense_Mutation_p.A943V|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.A943V|TACC2_ENST00000334433.3_Missense_Mutation_p.A943V|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.A943V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	943					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AAGTTGCCTGCACTAGGGGAG	0.527																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(2827-2829)gCa>gTa		transforming, acidic coiled-coil containing protein 2							98.0	101.0	100.0					10																	123844843		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123844843C>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.2828C>T	10.37:g.123844843C>T	ENSP00000358001:p.Ala943Val					TACC2_ENST00000453444.2_Missense_Mutation_p.A943V|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.A943V|TACC2_ENST00000515273.1_Missense_Mutation_p.A943V|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.A943V	p.A943V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			4	3168	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	943					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.2828C>T	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	C	8.661	0.900520	0.17686	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.03065	4.06;4.09;4.1;4.06;4.09	4.99	0.51	0.16983	.	0.717864	0.11504	N	0.557418	T	0.03390	0.0098	L	0.34521	1.04	0.09310	N	1	B;B;B	0.13145	0.007;0.007;0.007	B;B;B	0.08055	0.003;0.003;0.003	T	0.40232	-0.9574	10	0.72032	D	0.01	-1.4161	6.445	0.21871	0.1292:0.6115:0.0:0.2592	.	943;943;943	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	V	943;943;943;943;943;933	ENSP00000358001:A943V;ENSP00000424467:A943V;ENSP00000427618:A943V;ENSP00000334280:A943V;ENSP00000395048:A943V	ENSP00000334280:A943V	A	+	2	0	TACC2	123834833	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.537000	0.02206	0.051000	0.15978	-1.193000	0.01689	GCA		0.527	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			22	66	22	66	---	---	---	---
USP35	57558	broad.mit.edu	37	11	77917055	77917055	+	Silent	SNP	C	C	T			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr11:77917055C>T	ENST00000529308.1	+	7	1626	c.1365C>T	c.(1363-1365)atC>atT	p.I455I	USP35_ENST00000530267.1_Silent_p.I23I|USP35_ENST00000530535.1_Intron|USP35_ENST00000526425.1_Silent_p.I186I|USP35_ENST00000441408.2_Missense_Mutation_p.S40F	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	455	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			TCAACAGCATCCTTCAGGCCT	0.547																																						ENST00000441408.2																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23						c.(118-120)tCc>tTc		ubiquitin specific peptidase 35							268.0	271.0	270.0					11																	77917055		2054	4195	6249	SO:0001819	synonymous_variant	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77917055C>T	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.1365C>T	11.37:g.77917055C>T						USP35_ENST00000530267.1_Silent_p.I23I|USP35_ENST00000526425.1_Silent_p.I186I|USP35_ENST00000529308.1_Silent_p.I455I|USP35_ENST00000530535.1_Intron	p.S40F			Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		5	684	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		0						Missense_Mutation	SNP	ENST00000529308.1	37	c.119C>T	CCDS41693.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.600990	0.28534	.	.	ENSG00000118369	ENST00000441408	T	0.13307	2.6	4.64	2.66	0.31614	.	.	.	.	.	T	0.15435	0.0372	.	.	.	0.26111	N	0.980686	B	0.28552	0.215	B	0.35607	0.206	T	0.24799	-1.0150	8	0.87932	D	0	-20.1251	11.4555	0.50179	0.0:0.7847:0.1368:0.0784	.	40	E7EWV7	.	F	40	ENSP00000400825:S40F	ENSP00000400825:S40F	S	+	2	0	USP35	77594703	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	2.549000	0.45803	1.163000	0.42636	0.591000	0.81541	TCC		0.547	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		5	298	5	298	---	---	---	---
WNK1	65125	broad.mit.edu	37	12	994555	994555	+	Missense_Mutation	SNP	C	C	G			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr12:994555C>G	ENST00000315939.6	+	19	5228	c.4585C>G	c.(4585-4587)Cta>Gta	p.L1529V	WNK1_ENST00000535572.1_Missense_Mutation_p.L1282V|WNK1_ENST00000530271.2_Missense_Mutation_p.L2027V|WNK1_ENST00000340908.4_Missense_Mutation_p.L1122V|WNK1_ENST00000537687.1_Missense_Mutation_p.L1789V	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1529					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CGCACACTCACTAGATAAGAC	0.468																																					Colon(19;451 567 6672 12618 28860)	ENST00000537687.1																			0				breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104						c.(5365-5367)Cta>Gta		WNK lysine deficient protein kinase 1							406.0	364.0	378.0					12																	994555		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:994555C>G	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.4585C>G	12.37:g.994555C>G	ENSP00000313059:p.Leu1529Val					WNK1_ENST00000315939.6_Missense_Mutation_p.L1529V|WNK1_ENST00000530271.2_Missense_Mutation_p.L2027V|WNK1_ENST00000535572.1_Missense_Mutation_p.L1282V|WNK1_ENST00000340908.4_Missense_Mutation_p.L1122V	p.L1789V	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		19	6008	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		1529					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.5365C>G	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	C	7.946	0.743734	0.15642	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	T;T;T;T;T	0.62639	0.01;0.01;0.01;0.01;0.01	5.3	2.45	0.29901	.	0.454838	0.19188	N	0.120484	T	0.51092	0.1654	L	0.47716	1.5	0.09310	N	1	P;P;P	0.41848	0.763;0.649;0.666	B;B;B	0.39660	0.306;0.23;0.115	T	0.37337	-0.9710	10	0.35671	T	0.21	-11.6328	8.1467	0.31115	0.0:0.6791:0.1157:0.2052	.	1282;1282;1529	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	V	1282;1529;1789;702;2027;1122	ENSP00000441972:L1282V;ENSP00000313059:L1529V;ENSP00000444465:L1789V;ENSP00000433548:L2027V;ENSP00000341292:L1122V	ENSP00000252477:L702V	L	+	1	2	WNK1	864816	0.002000	0.14202	0.980000	0.43619	0.689000	0.40095	0.797000	0.26999	0.731000	0.32448	-0.140000	0.14226	CTA		0.468	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		64	166	64	166	---	---	---	---
IL4R	3566	broad.mit.edu	37	16	27367221	27367221	+	Missense_Mutation	SNP	A	A	C			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr16:27367221A>C	ENST00000395762.2	+	8	1022	c.763A>C	c.(763-765)Atc>Ctc	p.I255L	IL4R_ENST00000170630.2_Missense_Mutation_p.I255L|IL4R_ENST00000543915.2_Missense_Mutation_p.I255L|IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000380922.3_Missense_Mutation_p.I240L	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	255					defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CTATGTCAGCATCACCAAGTG	0.612																																						ENST00000395762.2																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(763-765)Atc>Ctc		interleukin 4 receptor							114.0	91.0	99.0					16																	27367221		2197	4300	6497	SO:0001583	missense	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27367221A>C	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.763A>C	16.37:g.27367221A>C	ENSP00000379111:p.Ile255Leu					IL4R_ENST00000170630.2_Missense_Mutation_p.I255L|IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000380922.3_Missense_Mutation_p.I240L|IL4R_ENST00000543915.2_Missense_Mutation_p.I255L	p.I255L	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN			8	1022	+			255					B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	ENST00000395762.2	37	c.763A>C	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	A	7.505	0.653421	0.14580	.	.	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T	0.09723	2.95;2.95;2.98;2.95	4.31	-2.58	0.06228	.	1.876460	0.02091	N	0.053155	T	0.08133	0.0203	L	0.41415	1.275	0.09310	N	1	P;B;B	0.43431	0.807;0.307;0.307	B;B;B	0.39217	0.294;0.051;0.051	T	0.32402	-0.9908	10	0.10902	T	0.67	-9.8063	4.9135	0.13835	0.3163:0.0:0.501:0.1827	.	240;255;255	B4E076;B9EGC0;P24394	.;.;IL4RA_HUMAN	L	255;255;240;255	ENSP00000379111:I255L;ENSP00000441667:I255L;ENSP00000370309:I240L;ENSP00000170630:I255L	ENSP00000170630:I255L	I	+	1	0	IL4R	27274722	0.000000	0.05858	0.063000	0.19743	0.062000	0.15995	-0.943000	0.03917	-0.373000	0.07979	-0.563000	0.04171	ATC		0.612	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			6	42	6	42	---	---	---	---
EVPL	2125	broad.mit.edu	37	17	74006445	74006445	+	Silent	SNP	G	G	C			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr17:74006445G>C	ENST00000301607.3	-	22	3094	c.2841C>G	c.(2839-2841)acC>acG	p.T947T	EVPL_ENST00000586740.1_Silent_p.T969T	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	947	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						AGGGCCGCTGGGTCCTCAGCT	0.667																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(2839-2841)acC>acG		envoplakin							40.0	41.0	41.0					17																	74006445		2203	4300	6503	SO:0001819	synonymous_variant	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74006445G>C	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.2841C>G	17.37:g.74006445G>C						EVPL_ENST00000586740.1_Silent_p.T969T	p.T947T	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			22	3094	-			947			Central fibrous rod domain.		A0AUV5	Silent	SNP	ENST00000301607.3	37	c.2841C>G	CCDS11737.1																																																																																				0.667	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		11	36	11	36	---	---	---	---
ZNF750	79755	broad.mit.edu	37	17	80790121	80790121	+	Silent	SNP	T	T	G			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr17:80790121T>G	ENST00000269394.3	-	2	1043	c.210A>C	c.(208-210)tcA>tcC	p.S70S	TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	70					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGGGGTCTAGTGAGTTAGATT	0.473																																						ENST00000269394.3																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31						c.(208-210)tcA>tcC		zinc finger protein 750							141.0	117.0	125.0					17																	80790121		2203	4300	6503	SO:0001819	synonymous_variant	79755					intracellular	zinc ion binding	g.chr17:80790121T>G	AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.210A>C	17.37:g.80790121T>G						TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron	p.S70S	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		2	1043	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	70					Q9H899	Silent	SNP	ENST00000269394.3	37	c.210A>C	CCDS11819.1																																																																																				0.473	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702		21	86	21	86	---	---	---	---
EPB41L3	23136	broad.mit.edu	37	18	5398057	5398057	+	Missense_Mutation	SNP	A	A	G			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr18:5398057A>G	ENST00000341928.2	-	17	2775	c.2435T>C	c.(2434-2436)aTa>aCa	p.I812T	EPB41L3_ENST00000342933.3_Missense_Mutation_p.I812T|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000544123.1_Missense_Mutation_p.I643T|EPB41L3_ENST00000542146.1_Missense_Mutation_p.I117T|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000427684.2_Missense_Mutation_p.I109T|EPB41L3_ENST00000400111.3_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	812	Spectrin--actin-binding. {ECO:0000255}.				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						AACCCCTCCTATGAATTCTGT	0.443																																						ENST00000341928.2																			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.(2434-2436)aTa>aCa		erythrocyte membrane protein band 4.1-like 3							210.0	212.0	211.0					18																	5398057		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.chr18:5398057A>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.2435T>C	18.37:g.5398057A>G	ENSP00000343158:p.Ile812Thr					EPB41L3_ENST00000342933.3_Missense_Mutation_p.I812T|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000542146.1_Missense_Mutation_p.I117T|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000544123.1_Missense_Mutation_p.I643T|EPB41L3_ENST00000427684.2_Missense_Mutation_p.I109T	p.I812T	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			17	2775	-			812			Spectrin--actin-binding (Potential).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.2435T>C	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	A	10.77	1.445045	0.25987	.	.	ENSG00000082397	ENST00000341928;ENST00000544123;ENST00000427684;ENST00000542146;ENST00000342933	D;D;T;T;D	0.83075	-1.5;-1.68;-0.5;-0.53;-1.5	6.17	6.17	0.99709	.	0.311579	0.37348	N	0.002130	D	0.85362	0.5679	M	0.68317	2.08	0.52099	D	0.999945	P;B;P;B;P	0.50272	0.933;0.418;0.853;0.075;0.565	P;B;P;B;B	0.50231	0.544;0.202;0.635;0.055;0.114	T	0.82418	-0.0467	10	0.13853	T	0.58	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	643;109;117;204;812	F5GX05;E7EUF8;F5H7W5;B7Z8M8;Q9Y2J2	.;.;.;.;E41L3_HUMAN	T	812;643;109;117;812	ENSP00000343158:I812T;ENSP00000441174:I643T;ENSP00000392195:I109T;ENSP00000442233:I117T;ENSP00000341138:I812T	ENSP00000343158:I812T	I	-	2	0	EPB41L3	5388057	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.683000	0.74533	2.371000	0.80710	0.533000	0.62120	ATA		0.443	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		38	163	38	163	---	---	---	---
PHACTR3	116154	broad.mit.edu	37	20	58348360	58348360	+	Missense_Mutation	SNP	A	A	T			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr20:58348360A>T	ENST00000371015.1	+	6	1245	c.778A>T	c.(778-780)Agc>Tgc	p.S260C	PHACTR3_ENST00000395636.2_Missense_Mutation_p.S219C|PHACTR3_ENST00000541461.1_Missense_Mutation_p.S219C|PHACTR3_ENST00000355648.4_Missense_Mutation_p.S219C|PHACTR3_ENST00000361300.4_Missense_Mutation_p.S149C|PHACTR3_ENST00000395639.4_Missense_Mutation_p.S149C|PHACTR3_ENST00000359926.3_Missense_Mutation_p.S257C	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	260						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CCAAGCCTCCAGCATGAAGAG	0.632																																						ENST00000371015.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59						c.(778-780)Agc>Tgc		phosphatase and actin regulator 3							86.0	88.0	87.0					20																	58348360		2203	4300	6503	SO:0001583	missense	116154					nuclear matrix	actin binding|protein phosphatase inhibitor activity	g.chr20:58348360A>T	AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.778A>T	20.37:g.58348360A>T	ENSP00000360054:p.Ser260Cys					PHACTR3_ENST00000361300.4_Missense_Mutation_p.S149C|PHACTR3_ENST00000359926.3_Missense_Mutation_p.S257C|PHACTR3_ENST00000355648.4_Missense_Mutation_p.S219C|PHACTR3_ENST00000395639.4_Missense_Mutation_p.S149C|PHACTR3_ENST00000541461.1_Missense_Mutation_p.S219C|PHACTR3_ENST00000395636.2_Missense_Mutation_p.S219C	p.S260C	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	BRCA - Breast invasive adenocarcinoma(7;2.76e-09)		6	1245	+	all_lung(29;0.00344)		260					B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	ENST00000371015.1	37	c.778A>T	CCDS13480.1	.	.	.	.	.	.	.	.	.	.	A	2.469	-0.322298	0.05350	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.32023	1.79;1.81;1.47;1.81;1.81;1.81;1.47	5.13	-1.83	0.07833	.	0.604159	0.18799	N	0.130823	T	0.16514	0.0397	N	0.22421	0.69	0.09310	N	1	B;P;B	0.37997	0.001;0.614;0.001	B;B;B	0.32624	0.002;0.149;0.002	T	0.06734	-1.0810	10	0.54805	T	0.06	-8.4802	10.5006	0.44804	0.4508:0.0:0.5492:0.0	.	149;260;257	Q96KR7-3;Q96KR7;B1AKX0	.;PHAR3_HUMAN;.	C	257;260;149;219;219;219;149	ENSP00000353002:S257C;ENSP00000360054:S260C;ENSP00000379001:S149C;ENSP00000442483:S219C;ENSP00000347866:S219C;ENSP00000378998:S219C;ENSP00000354555:S149C	ENSP00000347866:S219C	S	+	1	0	PHACTR3	57781755	0.023000	0.18921	0.000000	0.03702	0.000000	0.00434	0.258000	0.18387	-0.852000	0.04141	-2.200000	0.00306	AGC		0.632	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672		22	57	22	57	---	---	---	---
ALMS1	7840	broad.mit.edu	37	2	73835695	73835696	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2A-A8W3-01A-11D-A377-08	TCGA-2A-A8W3-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c4b6f6-86d6-48a2-bbfb-7b8da1493669	a7e479c1-0527-4958-9741-e038dcfc931f	g.chr2:73835695_73835696insA	ENST00000264448.6	+	22	12564_12565	c.12453_12454insA	c.(12454-12456)aaafs	p.K4152fs	ALMS1_ENST00000409009.1_Frame_Shift_Ins_p.K4110fs	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	4152	ALMS motif.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CCCAGCTATATAAAAAGGTCAG	0.426																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(12454-12456)aaafs		Alstrom syndrome 1																																				SO:0001589	frameshift_variant	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73835695_73835696insA	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.12458dupA	2.37:g.73835700_73835700dupA	ENSP00000264448:p.Lys4152fs					ALMS1_ENST00000409009.1_Frame_Shift_Ins_p.K4110fs	p.K4152fs	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN			22	12564_12565	+			4152					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Frame_Shift_Ins	INS	ENST00000264448.6	37	c.12453_12454insA	CCDS42697.1																																																																																				0.426	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		7	25	7	25	---	---	---	---
