#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
VPS13D	55187	broad.mit.edu	37	1	12371650	12371650	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr1:12371650C>T	ENST00000358136.3	+	28	6920	c.6790C>T	c.(6790-6792)Cgg>Tgg	p.R2264W	VPS13D_ENST00000356315.4_Missense_Mutation_p.R2264W	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGAATTTATGCGGCCTTATGA	0.438																																						uc001atv.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(6790-6792)Cgg>Tgg		Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.							145.0	147.0	146.0					1																	12371650		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12371650C>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.6790C>T	1.37:g.12371650C>T	ENSP00000350854:p.Arg2264Trp					VPS13D_uc001atw.3_Missense_Mutation_p.R2264W|VPS13D_uc001atx.3_Missense_Mutation_p.R1452W|VPS13D_uc001aty.1_Missense_Mutation_p.R2W	p.R2264W	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	27	6931	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	2264						Missense_Mutation	SNP	ENST00000358136.3	37	c.6790C>T	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771616	0.69992	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.47177	0.85;0.85	5.66	3.75	0.43078	.	0.000000	0.85682	D	0.000000	T	0.65729	0.2719	M	0.68593	2.085	0.80722	D	1	D;P;P	0.89917	1.0;0.794;0.691	D;B;B	0.87578	0.998;0.277;0.143	T	0.67841	-0.5566	10	0.66056	D	0.02	.	13.738	0.62829	0.4045:0.5955:0.0:0.0	.	171;2264;2264	B1AJZ2;Q5THJ4-2;Q5THJ4	.;.;VP13D_HUMAN	W	2264	ENSP00000348666:R2264W;ENSP00000350854:R2264W	ENSP00000348666:R2264W	R	+	1	2	VPS13D	12294237	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.322000	0.43814	0.711000	0.32018	0.563000	0.77884	CGG		0.438	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378	
SLC2A1	6513	broad.mit.edu	37	1	43396818	43396818	+	Silent	SNP	G	G	A			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr1:43396818G>A	ENST00000426263.3	-	3	352	c.174C>T	c.(172-174)ccC>ccT	p.P58P	SLC2A1_ENST00000415851.2_Silent_p.P58P|SLC2A1_ENST00000475162.1_5'UTR|SLC2A1_ENST00000372500.3_Silent_p.P58P	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	58					carbohydrate metabolic process (GO:0005975)|cellular response to glucose starvation (GO:0042149)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|protein complex assembly (GO:0006461)|regulation of insulin secretion (GO:0050796)|response to osmotic stress (GO:0006970)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|female pronucleus (GO:0001939)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|identical protein binding (GO:0042802)|protein self-association (GO:0043621)|xenobiotic transporter activity (GO:0042910)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	TGAGCGTGGTGGGCAGGATGC	0.602											OREG0013425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001cik.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13						c.(172-174)ccC>ccT		Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 1 (SLC2A1), mRNA.	Etomidate(DB00292)						135.0	107.0	117.0					1																	43396818		2203	4300	6503	SO:0001819	synonymous_variant	6513				carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr1:43396818G>A	K03195	CCDS477.1	1p34.2	2013-05-22			ENSG00000117394	ENSG00000117394		"""Solute carriers"""	11005	protein-coding gene	gene with protein product		138140	"""human T-cell leukemia virus (I and II) receptor"""	GLUT1, GLUT, HTLVR		8839927, 14622599, 18451999	Standard	NM_006516		Approved	DYT18	uc001cik.2	P11166	OTTHUMG00000007657	ENST00000426263.3:c.174C>T	1.37:g.43396818G>A			OREG0013425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	916		p.P58P	NM_006516	NP_006507	P11166	GTR1_HUMAN			2	699	-	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)	58					A8K9S6|B2R620|D3DPX0|O75535|Q147X2	Silent	SNP	ENST00000426263.3	37	c.174C>T	CCDS477.1																																																																																				0.602	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020358.2	NM_006516	
TGFBR3	7049	broad.mit.edu	37	1	92178062	92178062	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr1:92178062G>A	ENST00000525962.1	-	12	1965	c.1904C>T	c.(1903-1905)gCc>gTc	p.A635V	TGFBR3_ENST00000370399.2_Missense_Mutation_p.A634V|TGFBR3_ENST00000212355.4_Missense_Mutation_p.A635V			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	635	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.		A -> T (in dbSNP:rs17882578). {ECO:0000269|Ref.3}.		blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CGTTTGGATGGCAAATCCCAG	0.368																																						uc001doh.3																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(1903-1905)gCc>gTc		Homo sapiens transforming growth factor, beta receptor III (TGFBR3), transcript variant 1, mRNA.							108.0	103.0	104.0					1																	92178062		2203	4300	6503	SO:0001583	missense	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92178062G>A	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.1904C>T	1.37:g.92178062G>A	ENSP00000436127:p.Ala635Val					TGFBR3_uc009wde.3_Intron|TGFBR3_uc010osy.2_Missense_Mutation_p.A593V|TGFBR3_uc001doi.3_Missense_Mutation_p.A634V|TGFBR3_uc001doj.3_Missense_Mutation_p.A634V	p.A635V	NM_003243	NP_003234	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	12	2419	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	635		A -> T.	ZP.		A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	ENST00000525962.1	37	c.1904C>T	CCDS30770.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.404329	0.62288	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47	6.16	6.16	0.99307	Endoglin/CD105 antigen conserved site (1);Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.188028	0.50627	D	0.000106	D	0.88507	0.6455	M	0.72118	2.19	0.46798	D	0.999203	D;D	0.89917	1.0;0.995	D;P	0.91635	0.999;0.813	D	0.85856	0.1407	9	.	.	.	-18.4314	20.8598	0.99761	0.0:0.0:1.0:0.0	.	634;635	Q03167-2;Q03167	.;TGBR3_HUMAN	V	635;634;635;634	ENSP00000212355:A635V;ENSP00000359426:A634V;ENSP00000436127:A635V;ENSP00000432638:A634V	.	A	-	2	0	TGFBR3	91950650	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.040000	0.64191	2.937000	0.99478	0.650000	0.86243	GCC		0.368	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243	
PTCHD3	374308	broad.mit.edu	37	10	27702773	27702773	+	Missense_Mutation	SNP	G	G	A	rs200246680		TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr10:27702773G>A	ENST00000438700.3	-	1	524	c.407C>T	c.(406-408)gCg>gTg	p.A136V		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	136					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CCAGGGGTGCGCGCCCACCTG	0.667																																						uc001itu.2																			0		p.G135G(1)|p.A136A(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						c.(406-408)gCg>gTg		Homo sapiens patched domain containing 3 (PTCHD3), mRNA.							27.0	32.0	30.0					10																	27702773		2203	4299	6502	SO:0001583	missense	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27702773G>A	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.407C>T	10.37:g.27702773G>A	ENSP00000417658:p.Ala136Val						p.A136V	NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN			0	525	-			136					I3L499|Q6ZU28	Missense_Mutation	SNP	ENST00000438700.3	37	c.407C>T	CCDS31173.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.666238	0.47677	.	.	ENSG00000182077	ENST00000438700	D	0.88046	-2.33	4.01	0.822	0.18806	.	2.959320	0.01282	N	0.009773	T	0.81908	0.4922	L	0.46157	1.445	0.09310	N	1	P	0.35272	0.493	B	0.24155	0.051	T	0.69978	-0.4998	10	0.44086	T	0.13	-0.2012	8.586	0.33657	0.0:0.1423:0.5666:0.291	.	136	Q3KNS1	PTHD3_HUMAN	V	136	ENSP00000417658:A136V	ENSP00000417658:A136V	A	-	2	0	PTCHD3	27742779	0.014000	0.17966	0.713000	0.30519	0.890000	0.51754	1.114000	0.31196	0.844000	0.35094	0.555000	0.69702	GCG		0.667	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541	
OR51M1	390059	broad.mit.edu	37	11	5410816	5410816	+	Missense_Mutation	SNP	C	C	A			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr11:5410816C>A	ENST00000328611.3	+	1	210	c.188C>A	c.(187-189)aCc>aAc	p.T63N	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	63					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(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTATTAAGACCAACCCTCGT	0.478																																						uc010qzc.2																			0				NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30						c.(187-189)aCc>aAc		Homo sapiens olfactory receptor, family 51, subfamily M, member 1 (OR51M1), mRNA.							170.0	157.0	161.0					11																	5410816		2022	4179	6201	SO:0001583	missense	390059					integral to membrane	olfactory receptor activity	g.chr11:5410816C>A	BK004382	CCDS53596.1	11p15.4	2012-08-09			ENSG00000184698	ENSG00000184698		"""GPCR / Class A : Olfactory receptors"""	14847	protein-coding gene	gene with protein product							Standard	NM_001004756		Approved		uc010qzc.2	Q9H341	OTTHUMG00000066680	ENST00000328611.3:c.188C>A	11.37:g.5410816C>A	ENSP00000333196:p.Thr63Asn					HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	p.T63N	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	210	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	63					Q6IF80	Missense_Mutation	SNP	ENST00000328611.3	37	c.188C>A	CCDS53596.1	.	.	.	.	.	.	.	.	.	.	C	4.165	0.029131	0.08054	.	.	ENSG00000184698	ENST00000328611	T	0.09255	3.0	5.01	-2.59	0.06209	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35067	U	0.003467	T	0.10208	0.0250	M	0.78916	2.43	0.09310	N	1	B	0.18741	0.03	B	0.18561	0.022	T	0.23797	-1.0178	10	0.54805	T	0.06	.	1.7884	0.03046	0.2452:0.3649:0.2393:0.1506	.	52	Q9H341	O51M1_HUMAN	N	63	ENSP00000333196:T63N	ENSP00000333196:T63N	T	+	2	0	OR51M1	5367392	0.000000	0.05858	0.179000	0.23059	0.013000	0.08279	-1.993000	0.01475	-0.282000	0.09128	-0.188000	0.12872	ACC		0.478	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142981.1	NM_001004756	
CTNND1	1500	broad.mit.edu	37	11	57559037	57559037	+	Silent	SNP	G	G	A			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr11:57559037G>A	ENST00000399050.4	+	3	623	c.87G>A	c.(85-87)gcG>gcA	p.A29A	CTNND1_ENST00000361796.4_Silent_p.A29A|CTNND1_ENST00000529526.1_De_novo_Start_InFrame|CTNND1_ENST00000361332.4_Silent_p.A29A|RP11-691N7.6_ENST00000531074.1_3'UTR|CTNND1_ENST00000399039.4_Silent_p.A29A|CTNND1_ENST00000534579.1_De_novo_Start_InFrame|CTNND1_ENST00000426142.2_Intron|CTNND1_ENST00000524630.1_Silent_p.A29A|CTNND1_ENST00000532787.1_Intron|CTNND1_ENST00000528232.1_Intron|CTNND1_ENST00000532844.1_De_novo_Start_InFrame|CTNND1_ENST00000530094.1_Intron|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000532649.1_De_novo_Start_InFrame|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000529986.1_Intron|CTNND1_ENST00000528621.1_De_novo_Start_InFrame|CTNND1_ENST00000360682.6_Silent_p.A29A|TMX2-CTNND1_ENST00000528395.1_3'UTR|CTNND1_ENST00000526357.1_De_novo_Start_InFrame|CTNND1_ENST00000428599.2_Silent_p.A29A|CTNND1_ENST00000358694.6_Silent_p.A29A|CTNND1_ENST00000532463.1_Intron|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000529873.1_De_novo_Start_InFrame|CTNND1_ENST00000529919.1_Silent_p.A29A|CTNND1_ENST00000415361.2_Intron|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000361391.6_Silent_p.A29A|CTNND1_ENST00000532245.1_Intron|CTNND1_ENST00000526938.1_Silent_p.A29A|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000530748.1_De_novo_Start_InFrame	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	29					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				TGACCCGGGCGCTGGAGGAGG	0.637																																						uc001nmc.4																			0				breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45						c.(85-87)gcG>gcA		Homo sapiens catenin (cadherin-associated protein), delta 1 (CTNND1), transcript variant 1, mRNA.							24.0	27.0	26.0					11																	57559037		2021	4173	6194	SO:0001819	synonymous_variant	1500				adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding	g.chr11:57559037G>A	AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.87G>A	11.37:g.57559037G>A						CTNND1_uc001nlf.2_Silent_p.A29A|CTNND1_uc021qjk.1_Silent_p.A29A|CTNND1_uc001nlh.1_Silent_p.A29A|CTNND1_uc001nlj.4_5'UTR|CTNND1_uc001nlq.4_Intron|CTNND1_uc001nlr.4_5'UTR|CTNND1_uc001nln.4_Silent_p.A29A|CTNND1_uc001nli.4_Silent_p.A29A|CTNND1_uc001nlo.4_Intron|CTNND1_uc001nlp.4_5'UTR|CTNND1_uc001nlu.4_Intron|CTNND1_uc001nlt.4_Intron|CTNND1_uc001nlv.4_Intron|CTNND1_uc001nls.4_Intron|CTNND1_uc001nlw.4_Intron|CTNND1_uc001nmf.4_Silent_p.A29A|CTNND1_uc001nlx.4_Intron|CTNND1_uc001nlz.4_Intron|CTNND1_uc009ymn.3_Intron|CTNND1_uc001nly.4_Intron|CTNND1_uc001nmb.4_Intron|CTNND1_uc001nma.4_Intron|CTNND1_uc001nmd.4_5'UTR|CTNND1_uc001nlk.4_5'UTR|CTNND1_uc001nme.4_Silent_p.A29A|CTNND1_uc001nll.4_5'UTR|CTNND1_uc001nlm.4_Silent_p.A29A|CTNND1_uc001nmi.4_Intron|CTNND1_uc001nmg.4_5'UTR|CTNND1_uc001nmh.4_Silent_p.A29A	p.A29A	NM_001085458	NP_001078932	O60716	CTND1_HUMAN			2	658	+		all_epithelial(135;0.155)	29					A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Silent	SNP	ENST00000399050.4	37	c.87G>A	CCDS44604.1																																																																																				0.637	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1	NM_001331	
ACER3	55331	broad.mit.edu	37	11	76701596	76701596	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr11:76701596T>C	ENST00000532485.1	+	6	520	c.416T>C	c.(415-417)gTa>gCa	p.V139A	ACER3_ENST00000530182.1_3'UTR|ACER3_ENST00000533873.1_Missense_Mutation_p.V102A|ACER3_ENST00000526597.1_Missense_Mutation_p.V44A|ACER3_ENST00000538157.1_Missense_Mutation_p.V97A	NM_018367.5	NP_060837.3	Q9NUN7	ACER3_HUMAN	alkaline ceramidase 3	139					ceramide metabolic process (GO:0006672)|phytosphingosine biosynthetic process (GO:0071602)|positive regulation of cell proliferation (GO:0008284)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of Golgi membrane (GO:0030173)	phytoceramidase activity (GO:0070774)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	9						TACCTTAAGGTAAAAGAGCCG	0.338																																						uc009yum.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	9						c.(415-417)gTa>gCa		Homo sapiens alkaline ceramidase 3 (ACER3), mRNA.							209.0	200.0	203.0					11																	76701596		2200	4292	6492	SO:0001583	missense	55331				ceramide metabolic process|phytosphingosine biosynthetic process|positive regulation of cell proliferation|sphingosine biosynthetic process	integral to endoplasmic reticulum membrane|integral to Golgi membrane	phytoceramidase activity	g.chr11:76701596T>C	AF214454	CCDS8247.1, CCDS73352.1	11q13.5	2013-01-25	2008-12-19	2008-12-19	ENSG00000078124	ENSG00000078124	3.5.1.23	"""Alkaline ceramidase"""	16066	protein-coding gene	gene with protein product	"""alkaline phytoceramidase"""		"""phytoceramidase, alkaline"""	PHCA		11356846, 18619555	Standard	XM_005274090		Approved	FLJ11238, APHC	uc009yum.1	Q9NUN7	OTTHUMG00000165225	ENST00000532485.1:c.416T>C	11.37:g.76701596T>C	ENSP00000434480:p.Val139Ala					ACER3_uc010rsg.1_Missense_Mutation_p.V97A|ACER3_uc009yul.1_Non-coding_Transcript|ACER3_uc001oxu.2_Non-coding_Transcript|ACER3_uc009yun.1_Missense_Mutation_p.V97A|ACER3_uc009yuo.1_Missense_Mutation_p.V44A|ACER3_uc010rsh.1_Missense_Mutation_p.V102A|ACER3_uc010rsi.1_Missense_Mutation_p.V44A|ACER3_uc010rsj.1_Missense_Mutation_p.V44A	p.V139A	NM_018367	NP_060837	Q9NUN7	ACER3_HUMAN			5	520	+			139					B2RC99	Missense_Mutation	SNP	ENST00000532485.1	37	c.416T>C	CCDS8247.1	.	.	.	.	.	.	.	.	.	.	T	13.68	2.310139	0.40895	.	.	ENSG00000078124	ENST00000534206;ENST00000532485;ENST00000526597;ENST00000533873;ENST00000538157;ENST00000530243	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	5.54	5.54	0.83059	.	0.197354	0.45126	D	0.000399	T	0.32645	0.0836	L	0.39020	1.185	0.80722	D	1	B;B	0.33777	0.425;0.425	B;B	0.34418	0.121;0.182	T	0.09707	-1.0662	10	0.20519	T	0.43	-12.8758	11.9914	0.53178	0.0:0.0:0.0:1.0	.	102;139	B7Z2Q2;Q9NUN7	.;ACER3_HUMAN	A	97;139;44;102;97;97	ENSP00000435733:V97A;ENSP00000434480:V139A;ENSP00000431149:V44A;ENSP00000436252:V102A;ENSP00000440916:V97A	ENSP00000431149:V44A	V	+	2	0	ACER3	76379244	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.812000	0.55628	2.323000	0.78572	0.528000	0.53228	GTA		0.338	ACER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382770.2	NM_018367	
NNMT	4837	broad.mit.edu	37	11	114182998	114182998	+	Silent	SNP	G	G	A			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr11:114182998G>A	ENST00000535401.1	+	5	858	c.594G>A	c.(592-594)gcG>gcA	p.A198A	NNMT_ENST00000542647.1_Silent_p.A3A|RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000545255.1_Silent_p.A3A|NNMT_ENST00000299964.3_Silent_p.A198A|NNMT_ENST00000541754.1_Silent_p.A3A			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	198					methylation (GO:0032259)|organ regeneration (GO:0031100)|response to drug (GO:0042493)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	nicotinamide N-methyltransferase activity (GO:0008112)			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	TCATGGATGCGCTCAAGAGCA	0.612																																						uc001por.1																			0				kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(592-594)gcG>gcA		Homo sapiens nicotinamide N-methyltransferase (NNMT), mRNA.	Niacin(DB00627)						65.0	67.0	67.0					11																	114182998		2201	4296	6497	SO:0001819	synonymous_variant	4837				xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity	g.chr11:114182998G>A	U08021	CCDS8368.1	11q23.1	2007-08-15					2.1.1.1		7861	protein-coding gene	gene with protein product		600008				8575745	Standard	NM_006169		Approved		uc001pos.1	P40261		ENST00000535401.1:c.594G>A	11.37:g.114182998G>A						NNMT_uc001pos.1_Silent_p.A198A	p.A198A	NM_006169	NP_006160	P40261	NNMT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	4	858	+		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)	198						Silent	SNP	ENST00000535401.1	37	c.594G>A	CCDS8368.1																																																																																				0.612	NNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398951.1	NM_006169	
OR6X1	390260	broad.mit.edu	37	11	123624636	123624636	+	Silent	SNP	G	G	A			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr11:123624636G>A	ENST00000327930.2	-	1	617	c.591C>T	c.(589-591)ggC>ggT	p.G197G		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	197						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TTGCTATGACGCCCAGGAGTT	0.448																																						uc010rzy.2																			0				breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23						c.(589-591)ggC>ggT		Homo sapiens olfactory receptor, family 6, subfamily X, member 1 (OR6X1), mRNA.							90.0	92.0	91.0					11																	123624636		2202	4299	6501	SO:0001819	synonymous_variant	390260				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123624636G>A	AB065510	CCDS31695.1	11q24.1	2012-08-09			ENSG00000221931	ENSG00000221931		"""GPCR / Class A : Olfactory receptors"""	14737	protein-coding gene	gene with protein product							Standard	NM_001005188		Approved		uc010rzy.2	Q8NH79	OTTHUMG00000166011	ENST00000327930.2:c.591C>T	11.37:g.123624636G>A							p.G197G	NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	0	591	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	197					B9EGW9|Q6IFA0	Silent	SNP	ENST00000327930.2	37	c.591C>T	CCDS31695.1																																																																																				0.448	OR6X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387436.1	NM_001005188	
NDUFA12	55967	broad.mit.edu	37	12	95365322	95365322	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr12:95365322G>A	ENST00000327772.2	-	4	421	c.332C>T	c.(331-333)aCg>aTg	p.T111M	NDUFA12_ENST00000547157.1_Intron|NDUFA12_ENST00000550187.1_5'UTR|NDUFA12_ENST00000547986.1_3'UTR	NM_018838.4	NP_061326.1	Q9UI09	NDUAC_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12	111					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|large_intestine(2)|lung(3)	6						TTTATGGTTCGTCCAAATGAA	0.423																																						uc001tdl.3																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(331-333)aCg>aTg		Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12 (NDUFA12), nuclear gene encoding mitochondrial protein, mRNA.	NADH(DB00157)						154.0	140.0	145.0					12																	95365322		2203	4300	6503	SO:0001583	missense	55967				respiratory electron transport chain|respiratory gaseous exchange|response to oxidative stress|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity	g.chr12:95365322G>A	BC005936	CCDS9050.1, CCDS58263.1	12q22	2011-07-04			ENSG00000184752	ENSG00000184752		"""Mitochondrial respiratory chain complex / Complex I"""	23987	protein-coding gene	gene with protein product	"""complex I B17.2 subunit"""	614530				10830904, 9827566	Standard	NM_018838		Approved	DAP13, B17.2	uc001tdl.4	Q9UI09		ENST00000327772.2:c.332C>T	12.37:g.95365322G>A	ENSP00000330737:p.Thr111Met						p.T111M	NM_018838	NP_061326	Q9UI09	NDUAC_HUMAN			3	387	-			111					F8VQS7|Q53XX0|Q9BRV6	Missense_Mutation	SNP	ENST00000327772.2	37	c.332C>T	CCDS9050.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.821215	0.50633	.	.	ENSG00000184752	ENST00000327772	T	0.43688	0.94	5.46	3.41	0.39046	.	0.493659	0.25073	N	0.033344	T	0.26268	0.0641	N	0.14661	0.345	0.80722	D	1	B	0.17038	0.02	B	0.17098	0.017	T	0.06197	-1.0840	10	0.41790	T	0.15	-20.6474	11.7771	0.51991	0.0:0.0:0.3976:0.6024	.	111	Q9UI09	NDUAC_HUMAN	M	111	ENSP00000330737:T111M	ENSP00000330737:T111M	T	-	2	0	NDUFA12	93889453	1.000000	0.71417	0.991000	0.47740	0.894000	0.52154	3.251000	0.51453	1.252000	0.44001	0.561000	0.74099	ACG		0.423	NDUFA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407245.2	NM_018838	
RBM19	9904	broad.mit.edu	37	12	114282577	114282577	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr12:114282577A>G	ENST00000545145.2	-	23	2759	c.2681T>C	c.(2680-2682)cTg>cCg	p.L894P	RBM19_ENST00000261741.5_Missense_Mutation_p.L894P|RBM19_ENST00000392561.3_Missense_Mutation_p.L894P	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	894	RRM 6. {ECO:0000255|PROSITE- ProRule:PRU00176}.				multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GCTGTGACACAGGGCGTTGAA	0.637																																						uc009zwi.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55						c.(2680-2682)cTg>cCg		Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA.							43.0	40.0	41.0					12																	114282577		2203	4300	6503	SO:0001583	missense	9904				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	g.chr12:114282577A>G	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.2681T>C	12.37:g.114282577A>G	ENSP00000442053:p.Leu894Pro					RBM19_uc001tvn.4_Missense_Mutation_p.L894P|RBM19_uc001tvm.3_Missense_Mutation_p.L894P	p.L894P	NM_001146699	NP_057280	Q9Y4C8	RBM19_HUMAN			22	2825	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		894			RRM 6.		A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	37	c.2681T>C	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.249104	0.80024	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.26810	1.71;1.71;1.71	5.26	5.26	0.73747	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	D	0.000004	T	0.57814	0.2079	M	0.89353	3.025	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67158	-0.5741	10	0.87932	D	0	-14.4809	14.8471	0.70267	1.0:0.0:0.0:0.0	.	894	Q9Y4C8	RBM19_HUMAN	P	894	ENSP00000442053:L894P;ENSP00000376344:L894P;ENSP00000261741:L894P	ENSP00000261741:L894P	L	-	2	0	RBM19	112766960	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.615000	0.90920	1.983000	0.57843	0.459000	0.35465	CTG		0.637	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196	
RABGGTA	5875	broad.mit.edu	37	14	24739285	24739285	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr14:24739285G>A	ENST00000399409.3	-	4	784	c.301C>T	c.(301-303)Cgg>Tgg	p.R101W	RABGGTA_ENST00000216840.6_Missense_Mutation_p.R101W|RABGGTA_ENST00000560777.1_5'Flank|RABGGTA_ENST00000559586.1_5'UTR	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	101					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		GGGTTCACCCGCAGGCAGCTC	0.632																																						uc001wof.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12						c.(301-303)Cgg>Tgg		Homo sapiens Rab geranylgeranyltransferase, alpha subunit (RABGGTA), transcript variant 2, mRNA.							33.0	38.0	36.0					14																	24739285		1969	4157	6126	SO:0001583	missense	5875				visual perception		Rab geranylgeranyltransferase activity|zinc ion binding	g.chr14:24739285G>A		CCDS45088.1	14q11.2	2011-06-27				ENSG00000100949		"""Prenyltransferase alpha subunit repeat containing"""	9795	protein-coding gene	gene with protein product	"""protein prenyltransferase alpha subunit repeat containing 3"""	601905				8954794	Standard	NM_182836		Approved	PTAR3	uc001wog.4	Q92696		ENST00000399409.3:c.301C>T	14.37:g.24739285G>A	ENSP00000382341:p.Arg101Trp					RABGGTA_uc001wog.3_Missense_Mutation_p.R101W|HP08474_uc021rro.1_5'Flank	p.R101W	NM_004581	NP_878256	Q92696	PGTA_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	3	723	-			101					A8K5N2|D3DS69	Missense_Mutation	SNP	ENST00000399409.3	37	c.301C>T	CCDS45088.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132317	0.56828	.	.	ENSG00000100949	ENST00000216840;ENST00000399409;ENST00000543002	T;T	0.46819	0.86;0.86	5.17	2.19	0.27852	Protein prenyltransferase (1);	0.059972	0.64402	D	0.000005	T	0.65133	0.2662	M	0.77406	2.37	0.80722	D	1	D	0.89917	1.0	D	0.63597	0.916	T	0.67887	-0.5554	10	0.72032	D	0.01	-20.7424	13.2219	0.59892	0.0:0.0:0.5782:0.4218	.	101	Q92696	PGTA_HUMAN	W	101;101;64	ENSP00000216840:R101W;ENSP00000382341:R101W	ENSP00000216840:R101W	R	-	1	2	RABGGTA	23809125	0.369000	0.25039	0.943000	0.38184	0.840000	0.47671	0.752000	0.26362	0.149000	0.19098	0.462000	0.41574	CGG		0.632	RABGGTA-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415308.5	NM_182836	
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A	rs201972834		TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652																																						uc002cdi.3																			10	Substitution - Missense(10)	p.G374S(10)	kidney(7)|prostate(2)|endometrium(1)	central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						c.(523-525)Ggc>Agc		Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.																																						374666							g.chr15:102515299G>A			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515299G>A						WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript	p.G175S							8	1943	+									Missense_Mutation	SNP	ENST00000557932.1	37	c.523G>A		.	.	.	.	.	.	.	.	.	.	g	2.376	-0.343229	0.05243	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-23.1056	7.9382	0.29941	0.0:0.0:1.0:0.0	.	.	.	.	S	383;374	.	.	G	+	1	0	WASH3P	100332822	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	8.205000	0.89743	0.863000	0.35553	0.184000	0.17185	GGC		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163	
CORO7	79585	broad.mit.edu	37	16	4414382	4414382	+	Silent	SNP	C	C	T			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr16:4414382C>T	ENST00000251166.4	-	14	1315	c.1170G>A	c.(1168-1170)cgG>cgA	p.R390R	CORO7_ENST00000539968.1_Silent_p.R170R|CORO7-PAM16_ENST00000572467.1_Silent_p.R390R|CORO7_ENST00000574025.1_Silent_p.R305R|CORO7_ENST00000537233.2_Silent_p.R372R|CORO7_ENST00000423908.2_Silent_p.R222R	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	390					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						TCGGGTGGGGCCGGCAGGCGG	0.701																																						uc002cwf.3																			0											c.(1168-1170)cgG>cgA		Homo sapiens CORO7-PAM16 readthrough (CORO7-PAM16), mRNA.							13.0	17.0	16.0					16																	4414382		2185	4290	6475	SO:0001819	synonymous_variant	79585							g.chr16:4414382C>T	AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"""Coronins"", ""WD repeat domain containing"""	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.1170G>A	16.37:g.4414382C>T						CORO7-PAM16_uc002cwe.3_Non-coding_Transcript|CORO7-PAM16_uc002cwg.4_Silent_p.R170R|CORO7-PAM16_uc002cwh.4_Silent_p.R390R|CORO7-PAM16_uc010uxh.2_Silent_p.R372R|CORO7-PAM16_uc010uxi.2_Silent_p.R305R|CORO7-PAM16_uc002cwi.1_Silent_p.R170R|CORO7-PAM16_uc010uxj.1_Non-coding_Transcript|CORO7-PAM16_uc010btp.1_Silent_p.R170R	p.R390R	NM_001201479	NP_001188408					13	1613	-								B4DFD6|B4DL18|I3L416|Q17RK4	Silent	SNP	ENST00000251166.4	37	c.1170G>A	CCDS10513.1																																																																																				0.701	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2	NM_024535	
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs375625296		TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr17:21731144T>G	ENST00000578713.1	+	1	450	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584755.1_Missense_Mutation_p.L149R|UBBP4_ENST00000584398.1_3'UTR					ubiquitin B pseudogene 4									p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542																																						uc002gyy.3																			18	Substitution - Missense(18)	p.L149R(18)|p.R148S(1)	endometrium(12)|prostate(6)	breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(445-447)cTg>cGg		SubName: Full=Uncharacterized protein;																																				SO:0001583	missense	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:21731144T>G	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.446T>G	17.37:g.21731144T>G	ENSP00000464265:p.Leu149Arg						p.L149R			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	571	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		301			Ubiquitin-like 2.			Missense_Mutation	SNP	ENST00000578713.1	37	c.446T>G																																																																																					0.542	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2		
SLC35G3	146861	broad.mit.edu	37	17	33520922	33520922	+	Missense_Mutation	SNP	T	T	A			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr17:33520922T>A	ENST00000297307.5	-	1	490	c.405A>T	c.(403-405)aaA>aaT	p.K135N	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	135	EamA 1.					integral component of membrane (GO:0016021)											TGGAAGAACCTTTGCGAACAG	0.607																																						uc002hjd.2																			0											c.(403-405)aaA>aaT		Homo sapiens solute carrier family 35, member G3 (SLC35G3), mRNA.							149.0	142.0	144.0					17																	33520922		2203	4300	6503	SO:0001583	missense	146861					integral to membrane		g.chr17:33520922T>A	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.405A>T	17.37:g.33520922T>A	ENSP00000297307:p.Lys135Asn						p.K135N	NM_152462	NP_689675	Q8N808	AMAC1_HUMAN			0	491	-			135			DUF6 1.		B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	c.405A>T	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	T	11.03	1.520257	0.27211	.	.	ENSG00000164729	ENST00000297307	T	0.48836	0.8	.	.	.	.	0.000000	0.50627	D	0.000115	T	0.43743	0.1261	L	0.27053	0.805	0.29956	N	0.819777	D	0.89917	1.0	D	0.87578	0.998	T	0.43147	-0.9409	9	0.13853	T	0.58	-1.8923	4.4978	0.11848	0.0:7.0E-4:0.0:0.9993	.	135	Q8N808	S35G3_HUMAN	N	135	ENSP00000297307:K135N	ENSP00000297307:K135N	K	-	3	2	SLC35G3	30545035	0.965000	0.33210	0.296000	0.24974	0.297000	0.27493	0.192000	0.17096	0.056000	0.16144	0.055000	0.15244	AAA		0.607	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462	
KRT20	54474	broad.mit.edu	37	17	39041346	39041346	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr17:39041346G>A	ENST00000167588.3	-	1	133	c.92C>T	c.(91-93)aCg>aTg	p.T31M		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	31	Head.				apoptotic process (GO:0006915)|cellular response to stress (GO:0033554)|intermediate filament organization (GO:0045109)|regulation of protein secretion (GO:0050708)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				GCTGGGTGTCGTCCCGAGGCG	0.607																																						uc002hvl.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14						c.(91-93)aCg>aTg		Homo sapiens keratin 20 (KRT20), mRNA.							44.0	42.0	43.0					17																	39041346		2203	4300	6503	SO:0001583	missense	54474				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39041346G>A	BC031559	CCDS11379.1	17q21.2	2013-01-16			ENSG00000171431	ENSG00000171431		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	20412	protein-coding gene	gene with protein product		608218				8359595, 12515621, 16831889	Standard	NM_019010		Approved	CK20, K20, MGC35423	uc002hvl.3	P35900	OTTHUMG00000133366	ENST00000167588.3:c.92C>T	17.37:g.39041346G>A	ENSP00000167588:p.Thr31Met						p.T31M	NM_019010	NP_061883	P35900	K1C20_HUMAN			0	150	-		Breast(137;0.000301)|Ovarian(249;0.15)	31			Head.		B2R6W7	Missense_Mutation	SNP	ENST00000167588.3	37	c.92C>T	CCDS11379.1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.428842	0.25726	.	.	ENSG00000171431	ENST00000167588	D	0.83335	-1.71	4.77	-2.49	0.06403	.	0.818256	0.10883	N	0.623597	T	0.62344	0.2420	N	0.08118	0	0.18873	N	0.999988	P	0.39071	0.658	B	0.33521	0.165	T	0.51965	-0.8638	10	0.33940	T	0.23	.	11.6406	0.51230	0.3279:0.0:0.6721:0.0	.	31	P35900	K1C20_HUMAN	M	31	ENSP00000167588:T31M	ENSP00000167588:T31M	T	-	2	0	KRT20	36294872	.	.	0.003000	0.11579	0.007000	0.05969	.	.	-0.477000	0.06832	-0.940000	0.02684	ACG		0.607	KRT20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257202.2		
TBKBP1	9755	broad.mit.edu	37	17	45776024	45776024	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr17:45776024C>G	ENST00000361722.3	+	4	1366	c.517C>G	c.(517-519)Caa>Gaa	p.Q173E		NM_014726.2	NP_055541.1			TBK1 binding protein 1											endometrium(5)|kidney(1)|lung(1)	7						GCGGCAACAGCAAGGCCTCCA	0.647											OREG0024498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ilu.3																			0				endometrium(5)|kidney(1)|lung(1)	7						c.(517-519)Caa>Gaa		Homo sapiens TBK1 binding protein 1 (TBKBP1), mRNA.							29.0	32.0	31.0					17																	45776024		1998	4162	6160	SO:0001583	missense	9755				innate immune response			g.chr17:45776024C>G	AB018318	CCDS45722.1	17q21.32	2012-05-17				ENSG00000198933			30140	protein-coding gene	gene with protein product		608476				14743216, 19481056	Standard	NM_014726		Approved	ProSAPiP2, KIAA0775	uc002ilu.3	A7MCY6		ENST00000361722.3:c.517C>G	17.37:g.45776024C>G	ENSP00000354777:p.Gln173Glu		OREG0024498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	934		p.Q173E	NM_014726	NP_055541	A7MCY6	TBKB1_HUMAN			3	1366	+			173						Missense_Mutation	SNP	ENST00000361722.3	37	c.517C>G	CCDS45722.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.176100	0.38413	.	.	ENSG00000198933	ENST00000361722;ENST00000537587	T;T	0.47869	0.83;0.83	5.61	5.61	0.85477	.	0.327541	0.28809	N	0.014067	T	0.28632	0.0709	N	0.08118	0	0.37713	D	0.92463	B	0.12013	0.005	B	0.08055	0.003	T	0.16512	-1.0400	10	0.38643	T	0.18	-3.9981	12.849	0.57846	0.0:0.8362:0.1638:0.0	.	173	A7MCY6	TBKB1_HUMAN	E	173	ENSP00000354777:Q173E;ENSP00000446365:Q173E	ENSP00000354777:Q173E	Q	+	1	0	TBKBP1	43131023	0.998000	0.40836	0.982000	0.44146	0.749000	0.42624	2.791000	0.47829	2.642000	0.89623	0.650000	0.86243	CAA		0.647	TBKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441363.1	NM_014726	
EXOC7	23265	broad.mit.edu	37	17	74084564	74084564	+	Missense_Mutation	SNP	T	T	G			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr17:74084564T>G	ENST00000335146.7	-	11	1486	c.1433A>C	c.(1432-1434)gAc>gCc	p.D478A	EXOC7_ENST00000332065.5_Missense_Mutation_p.D396A|EXOC7_ENST00000607838.1_Missense_Mutation_p.D450A|EXOC7_ENST00000589210.1_Missense_Mutation_p.D427A|EXOC7_ENST00000411744.2_Missense_Mutation_p.D419A|EXOC7_ENST00000467929.2_Missense_Mutation_p.D386A|EXOC7_ENST00000405575.4_Missense_Mutation_p.D450A			Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	478					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			GTCTGCGAAGTCCTCCAGCGC	0.632																																						uc002jqs.3																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14						c.(1432-1434)gAc>gCc		Homo sapiens exocyst complex component 7 (EXOC7), transcript variant 4, mRNA.							126.0	100.0	108.0					17																	74084564		2203	4300	6503	SO:0001583	missense	23265				exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding	g.chr17:74084564T>G	BC029432	CCDS11741.1, CCDS32738.1, CCDS45781.1, CCDS45782.1, CCDS45784.1, CCDS74164.1	17q25.3	2013-01-22			ENSG00000182473	ENSG00000182473			23214	protein-coding gene	gene with protein product		608163				12477932	Standard	NM_001013839		Approved	EXO70, KIAA1067, YJL085W, Exo70p	uc010wsw.2	Q9UPT5	OTTHUMG00000150720	ENST00000335146.7:c.1433A>C	17.37:g.74084564T>G	ENSP00000334100:p.Asp478Ala					EXOC7_uc010dgv.2_Missense_Mutation_p.D374A|EXOC7_uc010wsv.2_Missense_Mutation_p.D386A|EXOC7_uc010wsw.2_Missense_Mutation_p.D450A|EXOC7_uc002jqq.3_Missense_Mutation_p.D427A|EXOC7_uc010wsx.2_Missense_Mutation_p.D419A|EXOC7_uc002jqr.3_Missense_Mutation_p.D396A	p.D478A	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		10	1528	-			478					B5MC69|B8XXP2|Q8ND93|Q8WV91|Q96FF0|Q9H8C3|Q9H9X3|Q9HA32	Missense_Mutation	SNP	ENST00000335146.7	37	c.1433A>C	CCDS45782.1	.	.	.	.	.	.	.	.	.	.	T	18.36	3.606873	0.66558	.	.	ENSG00000182473	ENST00000332065;ENST00000351709;ENST00000405575;ENST00000335146;ENST00000357231;ENST00000425372;ENST00000411744	.	.	.	5.19	5.19	0.71726	Cullin repeat-like-containing domain (1);	0.217830	0.46145	D	0.000307	T	0.47097	0.1427	N	0.25647	0.755	0.80722	D	1	B;B;B;B;B;B;B	0.29886	0.26;0.012;0.008;0.033;0.167;0.123;0.059	B;B;B;B;B;B;B	0.29862	0.04;0.004;0.058;0.04;0.042;0.108;0.015	T	0.50294	-0.8845	9	0.62326	D	0.03	-29.6733	15.0327	0.71720	0.0:0.0:0.0:1.0	.	419;450;386;386;478;396;427	Q9UPT5-5;Q9UPT5-6;B4DJ07;F5H1P1;Q9UPT5;Q9UPT5-2;Q9UPT5-1	.;.;.;.;EXOC7_HUMAN;.;.	A	396;316;450;478;427;386;419	.	ENSP00000333806:D396A	D	-	2	0	EXOC7	71596159	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.922000	0.87538	1.947000	0.56498	0.533000	0.62120	GAC		0.632	EXOC7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000319768.2	NM_015219	
ZNF407	55628	broad.mit.edu	37	18	72775660	72775660	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr18:72775660G>A	ENST00000299687.5	+	8	5983	c.5983G>A	c.(5983-5985)Gcg>Acg	p.A1995T		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1995					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		ATTGCTCTGTGCGGTCACTGA	0.627																																						uc002llw.2																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(5983-5985)Gcg>Acg		Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.							15.0	20.0	18.0					18																	72775660		2103	4210	6313	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72775660G>A	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.5983G>A	18.37:g.72775660G>A	ENSP00000299687:p.Ala1995Thr						p.A1995T	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	7	6036	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	1995					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.5983G>A	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.537724	0.65085	.	.	ENSG00000215421	ENST00000299687	T	0.24350	1.86	4.7	4.7	0.59300	.	.	.	.	.	T	0.51991	0.1707	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58064	-0.7702	9	0.87932	D	0	.	17.6634	0.88198	0.0:0.0:1.0:0.0	.	1995	Q9C0G0	ZN407_HUMAN	T	1995	ENSP00000299687:A1995T	ENSP00000299687:A1995T	A	+	1	0	ZNF407	70904648	1.000000	0.71417	0.872000	0.34217	0.090000	0.18270	8.636000	0.91010	2.174000	0.68829	0.561000	0.74099	GCG		0.627	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757	
FBN3	84467	broad.mit.edu	37	19	8176555	8176555	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr19:8176555G>A	ENST00000600128.1	-	32	4475	c.4061C>T	c.(4060-4062)gCc>gTc	p.A1354V	FBN3_ENST00000270509.2_Missense_Mutation_p.A1354V|FBN3_ENST00000601739.1_Missense_Mutation_p.A1354V			Q75N90	FBN3_HUMAN	fibrillin 3	1354	EGF-like 20; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCCATCCCCGGCAAAGCCCTG	0.637																																						uc002mjf.3																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(4060-4062)gCc>gTc		Homo sapiens fibrillin 3 (FBN3), mRNA.							28.0	29.0	29.0					19																	8176555		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8176555G>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.4061C>T	19.37:g.8176555G>A	ENSP00000470498:p.Ala1354Val						p.A1354V	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			30	4078	-			1354			EGF-like 20; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.4061C>T	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	G	4.476	0.088225	0.08583	.	.	ENSG00000142449	ENST00000270509	D	0.92048	-2.96	3.57	-1.7	0.08159	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	15.586900	0.02226	N	0.064439	T	0.81069	0.4746	N	0.04686	-0.185	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.70121	-0.4959	10	0.38643	T	0.18	.	3.5736	0.07926	0.3436:0.0:0.2917:0.3647	.	1354	Q75N90	FBN3_HUMAN	V	1354	ENSP00000270509:A1354V	ENSP00000270509:A1354V	A	-	2	0	FBN3	8082555	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.730000	0.26043	-0.225000	0.09913	0.313000	0.20887	GCC		0.637	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447	
ZNF101	94039	broad.mit.edu	37	19	19790246	19790247	+	Frame_Shift_Ins	INS	-	-	C			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr19:19790246_19790247insC	ENST00000592502.1	+	4	558_559	c.448_449insC	c.(448-450)tccfs	p.S150fs	ZNF101_ENST00000444249.2_3'UTR|ZNF101_ENST00000415784.2_Frame_Shift_Ins_p.S30fs			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	150					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						TGGGAAAGCCTCCATTTCCCCC	0.51																																						uc002nni.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						c.(448-450)tccfs		Homo sapiens zinc finger protein 101 (ZNF101), mRNA.																																				SO:0001589	frameshift_variant	94039				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:19790246_19790247insC	AK097169	CCDS32971.1	19p13.11	2013-01-08	2004-02-10		ENSG00000181896	ENSG00000181896		"""Zinc fingers, C2H2-type"", ""-"""	12881	protein-coding gene	gene with protein product		603983	"""zinc finger protein 101 (Y2)"""			11441184	Standard	XM_005260165		Approved	HZF12, DKFZp570I0164	uc002nni.2	Q8IZC7	OTTHUMG00000167736	ENST00000592502.1:c.450dupC	19.37:g.19790248_19790248dupC	ENSP00000468049:p.Ser150fs					ZNF101_uc010ecg.2_Frame_Shift_Ins_p.S30fs|ZNF101_uc002nnj.2_Frame_Shift_Ins_p.S30fs	p.S150fs	NM_033204	NP_149981	Q8IZC7	ZN101_HUMAN			3	558_559	+			150					C9JU83|Q0VDG9	Frame_Shift_Ins	INS	ENST00000592502.1	37	c.448_449insC	CCDS32971.1																																																																																				0.510	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460559.1	NM_033204	
CCDC155	147872	broad.mit.edu	37	19	49910497	49910497	+	Splice_Site	SNP	C	C	T	rs568170851	byFrequency	TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr19:49910497C>T	ENST00000447857.3	+	11	1082	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W		NM_144688.4	NP_653289.3	Q8N6L0	KASH5_HUMAN	coiled-coil domain containing 155	293						chromosome, telomeric region (GO:0000781)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						TTCTTGGCAGCGGCAGCTCTT	0.592													c|||	2	0.000399361	0.0008	0.0014	5008	,	,		15257	0.0		0.0	False		,,,				2504	0.0					uc002pnm.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						c.e11-1		Homo sapiens coiled-coil domain containing 155 (CCDC155), mRNA.							46.0	56.0	53.0					19																	49910497		1968	4143	6111	SO:0001630	splice_region_variant	147872					integral to membrane	calcium ion binding	g.chr19:49910497C>T		CCDS46140.1	19q13.33	2014-01-21			ENSG00000161609	ENSG00000161609			26520	protein-coding gene	gene with protein product							Standard	NM_144688		Approved	FLJ32658, KASH5	uc002pnm.2	Q8N6L0	OTTHUMG00000183170	ENST00000447857.3:c.877-1C>T	19.37:g.49910497C>T						CCDC155_uc010emx.2_Splice_Site_p.R266_splice	p.R293_splice	NM_144688	NP_653289	Q8N6L0	CC155_HUMAN			11	1082	+			293					Q96MC3	Missense_Mutation	SNP	ENST00000447857.3	37	c.877_splice	CCDS46140.1	.	.	.	.	.	.	.	.	.	.	c	9.505	1.104145	0.20632	.	.	ENSG00000161609	ENST00000447857	T	0.35605	1.3	4.42	-2.34	0.06704	.	0.922430	0.09090	N	0.850004	T	0.23649	0.0572	L	0.43701	1.375	0.27109	N	0.96242	B;B	0.12013	0.005;0.005	B;B	0.08055	0.003;0.003	T	0.27571	-1.0070	9	.	.	.	-8.6048	3.612	0.08063	0.2902:0.4459:0.0:0.2639	.	293;293	C9JGW3;Q8N6L0	.;CC155_HUMAN	W	293	ENSP00000404220:R293W	.	R	+	1	2	CCDC155	54602309	0.996000	0.38824	0.992000	0.48379	0.426000	0.31534	0.059000	0.14322	-0.318000	0.08665	-1.218000	0.01608	CGG		0.592	CCDC155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465436.2	NM_144688	Missense_Mutation
TBC1D17	79735	broad.mit.edu	37	19	50387771	50387771	+	Silent	SNP	C	C	T	rs201269112		TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr19:50387771C>T	ENST00000221543.5	+	12	1598	c.1299C>T	c.(1297-1299)aaC>aaT	p.N433N	TBC1D17_ENST00000535102.2_Silent_p.N400N	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	433	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				autophagy (GO:0006914)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	Rab GTPase activator activity (GO:0005097)			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		TCATTCAGAACGAGGTGGATG	0.607																																						uc002pqo.3																			0				NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1297-1299)aaC>aaT		Homo sapiens TBC1 domain family, member 17 (TBC1D17), transcript variant 1, mRNA.							191.0	186.0	188.0					19																	50387771		2203	4300	6503	SO:0001819	synonymous_variant	79735					intracellular	Rab GTPase activator activity	g.chr19:50387771C>T	AK090606	CCDS12785.1, CCDS54294.1	19q13.33	2013-07-09				ENSG00000104946			25699	protein-coding gene	gene with protein product						22854040	Standard	NM_024682		Approved	FLJ12168	uc002pqo.3	Q9HA65		ENST00000221543.5:c.1299C>T	19.37:g.50387771C>T						TBC1D17_uc010ybg.2_Silent_p.N400N|TBC1D17_uc002pqp.3_Silent_p.N84N|TBC1D17_uc002pqr.3_Silent_p.N84N	p.N433N	NM_024682	NP_078958	Q9HA65	TBC17_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	11	1598	+		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)	433			Rab-GAP TBC.		B4DT12|B9A6L8|F5H1W7	Silent	SNP	ENST00000221543.5	37	c.1299C>T	CCDS12785.1																																																																																				0.607	TBC1D17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466404.1	NM_024682	
NT5C1B	93034	broad.mit.edu	37	2	18764143	18764143	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr2:18764143T>C	ENST00000359846.2	-	7	1269	c.1192A>G	c.(1192-1194)Aat>Gat	p.N398D	NT5C1B_ENST00000304081.4_Missense_Mutation_p.N338D|NT5C1B_ENST00000460052.1_5'Flank|RNU6-1215P_ENST00000384441.1_RNA|NT5C1B_ENST00000600945.1_Missense_Mutation_p.N398D|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.N398D	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	398					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				CCGTAGTGATTGACGCTGTTT	0.413																																						uc010exr.3																			0											c.(1018-1020)Aat>Gat		Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA.							132.0	127.0	129.0					2																	18764143		2203	4300	6503	SO:0001583	missense	93034				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr2:18764143T>C	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.1192A>G	2.37:g.18764143T>C	ENSP00000352904:p.Asn398Asp					NT5C1B-RDH14_uc002rcy.3_Missense_Mutation_p.N398D|NT5C1B-RDH14_uc010yju.2_Missense_Mutation_p.N338D|NT5C1B-RDH14_uc002rcz.3_Missense_Mutation_p.N398D|NT5C1B-RDH14_uc010yjw.2_Missense_Mutation_p.N381D|NT5C1B-RDH14_uc010yjv.2_Missense_Mutation_p.N415D|NT5C1B-RDH14_uc010exs.3_Missense_Mutation_p.N400D|NT5C1B-RDH14_uc002rda.3_Missense_Mutation_p.N338D	p.N340D	NM_001199103	NP_001186032	Q96P26	5NT1B_HUMAN			5	1130	-			398					B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	ENST00000359846.2	37	c.1018A>G	CCDS33150.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.3|25.3	4.629096|4.629096	0.87560|0.87560	.|.	.|.	ENSG00000250741;ENSG00000250741;ENSG00000185013;ENSG00000185013|ENSG00000185013	ENST00000532967;ENST00000444297;ENST00000304081;ENST00000359846|ENST00000418427	D|.	0.90261|.	-2.64|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.090584|.	0.85682|.	D|.	0.000000|.	T|T	0.72732|0.72732	0.3497|0.3497	M|M	0.62723|0.62723	1.935|1.935	0.58432|0.58432	D|D	0.999997|0.999997	P;P;P;P;D;P;P;D|.	0.89917|.	0.771;0.771;0.771;0.771;1.0;0.729;0.771;0.994|.	P;B;P;B;D;P;B;P|.	0.87578|.	0.627;0.348;0.627;0.444;0.998;0.493;0.348;0.899|.	T|T	0.70745|0.70745	-0.4788|-0.4788	10|5	0.48119|.	T|.	0.1|.	-41.8558|-41.8558	16.8222|16.8222	0.85835|0.85835	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	381;415;338;381;340;338;398;398|.	E7EXB7;B4DZ86;B4DXQ9;B4DXZ9;C9J2C7;Q96P26-2;Q96P26;Q96P26-4|.	.;.;.;.;.;.;5NT1B_HUMAN;.|.	D|R	398;340;338;398|52	ENSP00000412639:N340D|.	ENSP00000305979:N338D|.	N|Q	-|-	1|2	0|0	NT5C1B-RDH14;NT5C1B|NT5C1B	18627624|18627624	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	8.040000|8.040000	0.89188|0.89188	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	AAT|CAA		0.413	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1		
TGFBRAP1	9392	broad.mit.edu	37	2	105897164	105897164	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr2:105897164C>T	ENST00000393359.2	-	6	1564	c.1138G>A	c.(1138-1140)Gtc>Atc	p.V380I	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.V380I			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	380					intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						AGCTCCCGGACATCAAGCTGG	0.532																																					Esophageal Squamous(183;794 2019 9730 21801 48859)	uc002tcq.3																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						c.(1138-1140)Gtc>Atc		Homo sapiens transforming growth factor, beta receptor associated protein 1 (TGFBRAP1), transcript variant 1, mRNA.							81.0	79.0	80.0					2																	105897164		2203	4300	6503	SO:0001583	missense	9392				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding	g.chr2:105897164C>T	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.1138G>A	2.37:g.105897164C>T	ENSP00000377027:p.Val380Ile					TGFBRAP1_uc010fjc.3_Missense_Mutation_p.V150I|TGFBRAP1_uc002tcr.4_Missense_Mutation_p.V380I	p.V380I	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN			5	1222	-			380					A8K5R7|D3DVJ8|O60466	Missense_Mutation	SNP	ENST00000393359.2	37	c.1138G>A	CCDS2067.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.966113	0.34659	.	.	ENSG00000135966	ENST00000393359;ENST00000258449	T;T	0.41758	0.99;0.99	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.23649	0.0572	N	0.12746	0.255	0.53688	D	0.999978	B	0.21606	0.058	B	0.15484	0.013	T	0.10132	-1.0643	10	0.15952	T	0.53	-39.4567	12.3103	0.54925	0.0:0.9225:0.0:0.0775	.	380	Q8WUH2	TGFA1_HUMAN	I	380	ENSP00000377027:V380I;ENSP00000258449:V380I	ENSP00000258449:V380I	V	-	1	0	TGFBRAP1	105263596	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.091000	0.71406	2.463000	0.83235	0.650000	0.86243	GTC		0.532	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257	
CNTNAP5	129684	broad.mit.edu	37	2	125367398	125367398	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr2:125367398G>A	ENST00000431078.1	+	12	2138	c.1774G>A	c.(1774-1776)Gag>Aag	p.E592K		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	592	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GCAATCCTGCGAGGTGTACAG	0.517																																						uc010flu.3																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(1777-1779)Gag>Aag		Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.							63.0	61.0	62.0					2																	125367398		1860	4107	5967	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125367398G>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1774G>A	2.37:g.125367398G>A	ENSP00000399013:p.Glu592Lys					CNTNAP5_uc002tno.3_Missense_Mutation_p.E592K	p.E593K	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	11	2141	+			592			Fibrinogen C-terminal.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.1777G>A	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	36	5.687046	0.96784	.	.	ENSG00000155052	ENST00000431078	T	0.18174	2.23	5.55	5.55	0.83447	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (2);	0.000000	0.50627	D	0.000119	T	0.50257	0.1605	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.54563	-0.8275	10	0.52906	T	0.07	.	18.4316	0.90627	0.0:0.0:1.0:0.0	.	592	Q8WYK1	CNTP5_HUMAN	K	592	ENSP00000399013:E592K	ENSP00000399013:E592K	E	+	1	0	CNTNAP5	125083868	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.884000	0.92432	2.768000	0.95171	0.655000	0.94253	GAG		0.517	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3		
GALNT5	11227	broad.mit.edu	37	2	158114680	158114681	+	Frame_Shift_Ins	INS	-	-	C			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr2:158114680_158114681insC	ENST00000259056.4	+	1	571_572	c.86_87insC	c.(85-90)gacatgfs	p.M30fs		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	30					cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						CTCCTCTTTGACATGGCAGCTC	0.495																																						uc002tzg.3																			0				breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						c.(85-87)gacfs		Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) (GALNT5), mRNA.																																				SO:0001589	frameshift_variant	11227				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:158114680_158114681insC	AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4127	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 5"""	615129	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"""			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.87dupC	2.37:g.158114681_158114681dupC	ENSP00000259056:p.Met30fs					GALNT5_uc010zci.2_Non-coding_Transcript	p.D29fs	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN			0	341_342	+			29					A5PKZ1|Q9UGK7|Q9UHL6	Frame_Shift_Ins	INS	ENST00000259056.4	37	c.86_87insC	CCDS2203.1																																																																																				0.495	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568	
PDE11A	50940	broad.mit.edu	37	2	178936459	178936459	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr2:178936459C>G	ENST00000286063.6	-	1	1023	c.706G>C	c.(706-708)Gac>Cac	p.D236H	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	236	GAF 1.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	GAGCAGCGGTCAGCATCCACC	0.493									Primary Pigmented Nodular Adrenocortical Disease, Familial																													uc002ulq.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58						c.(706-708)Gac>Cac		Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA.							79.0	70.0	73.0					2																	178936459		2203	4300	6503	SO:0001583	missense	50940	Primary Pigmented Nodular Adrenocortical Disease, Familial	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr2:178936459C>G	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.706G>C	2.37:g.178936459C>G	ENSP00000286063:p.Asp236His					PDE11A_uc002ulr.3_Intron|PDE11A_uc002ult.1_Intron	p.D236H	NM_016953	NP_001070664	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		0	1024	-			236			GAF 1.		Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000286063.6	37	c.706G>C	CCDS33334.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199228	0.79015	.	.	ENSG00000128655	ENST00000286063	T	0.73469	-0.75	5.52	4.59	0.56863	GAF (2);	0.165435	0.64402	D	0.000004	T	0.80969	0.4726	M	0.90483	3.12	0.80722	D	1	P	0.34864	0.473	B	0.38712	0.28	D	0.84695	0.0725	10	0.72032	D	0.01	.	14.9095	0.70746	0.0:0.8564:0.1436:0.0	.	236	Q9HCR9	PDE11_HUMAN	H	236	ENSP00000286063:D236H	ENSP00000286063:D236H	D	-	1	0	PDE11A	178644705	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.689000	0.68234	2.590000	0.87494	0.655000	0.94253	GAC		0.493	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2		
SPHKAP	80309	broad.mit.edu	37	2	228882884	228882884	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr2:228882884C>T	ENST00000392056.3	-	7	2732	c.2686G>A	c.(2686-2688)Gaa>Aaa	p.E896K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E896K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	896						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ACTTGAACTTCGTTGATGCGA	0.502																																						uc002vpq.2																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(2686-2688)Gaa>Aaa		Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.							364.0	339.0	348.0					2																	228882884		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228882884C>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2686G>A	2.37:g.228882884C>T	ENSP00000375909:p.Glu896Lys					SPHKAP_uc002vpp.2_Missense_Mutation_p.E896K|SPHKAP_uc010zlx.1_Missense_Mutation_p.E896K	p.E896K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	6	2733	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	896					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.2686G>A	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.956397	0.53293	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.16324	2.35;2.35	6.17	6.17	0.99709	.	0.482278	0.26180	N	0.025880	T	0.40171	0.1106	M	0.76574	2.34	0.30640	N	0.756531	D;D	0.67145	0.993;0.996	P;P	0.56343	0.557;0.796	T	0.28490	-1.0042	10	0.62326	D	0.03	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	896;896	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	K	896	ENSP00000375909:E896K;ENSP00000339886:E896K	ENSP00000339886:E896K	E	-	1	0	SPHKAP	228591128	0.111000	0.22076	0.020000	0.16555	0.020000	0.10135	3.309000	0.51903	2.941000	0.99782	0.655000	0.94253	GAA		0.502	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623	
TGM2	7052	broad.mit.edu	37	20	36789862	36789862	+	Silent	SNP	G	G	A	rs372553139		TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr20:36789862G>A	ENST00000361475.2	-	2	323	c.150C>T	c.(148-150)taC>taT	p.Y50Y	TGM2_ENST00000536724.1_Intron|TGM2_ENST00000536701.1_Silent_p.Y50Y	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	50					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CACTGGCCTCGTAGTTGCGGC	0.642																																						uc002xhr.3																			0				endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(148-150)taC>taT		Homo sapiens transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM2), transcript variant 1, mRNA.	L-Glutamine(DB00130)						73.0	56.0	62.0					20																	36789862		2203	4300	6503	SO:0001819	synonymous_variant	7052				apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:36789862G>A	M98478	CCDS13302.1	20q12	2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	2.3.2.13	"""Transglutaminases"""	11778	protein-coding gene	gene with protein product	"""C polypeptide, protein-glutamine-gamma-glutamyltransferase"""	190196	"""transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7912692, 11390390	Standard	NM_004613		Approved	TGC	uc002xhr.3	P21980	OTTHUMG00000032437	ENST00000361475.2:c.150C>T	20.37:g.36789862G>A						TGM2_uc010zvx.2_Silent_p.Y50Y|TGM2_uc010zvy.2_Intron|TGM2_uc002xhs.1_Silent_p.Y50Y|TGM2_uc002xht.3_Silent_p.Y50Y|TGM2_uc002xhu.3_Silent_p.Y50Y	p.Y50Y	NM_004613	NP_004604	P21980	TGM2_HUMAN			1	250	-		Myeloproliferative disorder(115;0.00878)	50					E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Silent	SNP	ENST00000361475.2	37	c.150C>T	CCDS13302.1																																																																																				0.642	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079151.2	NM_198951	
PFDN4	5203	broad.mit.edu	37	20	52830966	52830966	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr20:52830966C>T	ENST00000371419.2	+	2	355	c.101C>T	c.(100-102)aCa>aTa	p.T34I	PFDN4_ENST00000487129.1_3'UTR	NM_002623.3	NP_002614.2	Q9NQP4	PFD4_HUMAN	prefoldin subunit 4	34					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chaperone binding (GO:0051087)			endometrium(1)|kidney(2)	3	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		Colorectal(105;0.124)|STAD - Stomach adenocarcinoma(23;0.206)			AGTAGAATCACAGAGCTGAAG	0.284																																						uc002xwx.3																			0				endometrium(1)|kidney(2)	3						c.(100-102)aCa>aTa		Homo sapiens prefoldin subunit 4 (PFDN4), mRNA.							31.0	30.0	30.0					20																	52830966		2203	4295	6498	SO:0001583	missense	5203				'de novo' posttranslational protein folding	prefoldin complex	chaperone binding|unfolded protein binding	g.chr20:52830966C>T	U41816	CCDS13445.1	20q13.2	2008-07-02	2006-02-24		ENSG00000101132	ENSG00000101132			8868	protein-coding gene	gene with protein product		604898	"""prefoldin 4"""			9630229, 8744932	Standard	NM_002623		Approved	PFD4, C-1, C1	uc002xwx.3	Q9NQP4	OTTHUMG00000032775	ENST00000371419.2:c.101C>T	20.37:g.52830966C>T	ENSP00000360473:p.Thr34Ile						p.T34I	NM_002623	NP_002614	Q9NQP4	PFD4_HUMAN	Colorectal(105;0.124)|STAD - Stomach adenocarcinoma(23;0.206)		1	239	+	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		34					Q5TD11|Q92779	Missense_Mutation	SNP	ENST00000371419.2	37	c.101C>T	CCDS13445.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.623584	0.66901	.	.	ENSG00000101132	ENST00000371419	T	0.43688	0.94	4.96	4.96	0.65561	Prefoldin beta-like (1);Prefoldin (1);	0.090164	0.85682	D	0.000000	T	0.54822	0.1882	L	0.60455	1.87	0.58432	D	0.999997	D	0.56746	0.977	P	0.55615	0.78	T	0.52601	-0.8554	10	0.37606	T	0.19	-30.5726	17.5354	0.87829	0.0:1.0:0.0:0.0	.	34	Q9NQP4	PFD4_HUMAN	I	34	ENSP00000360473:T34I	ENSP00000360473:T34I	T	+	2	0	PFDN4	52264373	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.893000	0.56243	2.451000	0.82905	0.655000	0.94253	ACA		0.284	PFDN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079771.2	NM_002623	
TRPM2	7226	broad.mit.edu	37	21	45786659	45786659	+	Missense_Mutation	SNP	C	C	G	rs575116901		TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr21:45786659C>G	ENST00000397928.1	+	4	891	c.446C>G	c.(445-447)aCg>aGg	p.T149R	TRPM2_ENST00000397932.2_Missense_Mutation_p.T149R|TRPM2_ENST00000300481.9_Missense_Mutation_p.T149R|TRPM2_ENST00000300482.5_Missense_Mutation_p.T149R	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	149					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TCCCAGGACACGCCCTCCAGC	0.617																																						uc010gpt.1																			0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(445-447)aCg>aGg		Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.							73.0	65.0	68.0					21																	45786659		2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45786659C>G	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.446C>G	21.37:g.45786659C>G	ENSP00000381023:p.Thr149Arg					TRPM2_uc002zet.1_Missense_Mutation_p.T149R|TRPM2_uc002zeu.1_Missense_Mutation_p.T149R|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.T149R|TRPM2_uc002zex.1_5'Flank	p.T149R	NM_003307	NP_003298	O94759	TRPM2_HUMAN			3	546	+			149					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.446C>G	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365768	0.61513	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.08720	3.06;3.06;3.06;3.06	4.12	4.12	0.48240	.	0.000000	0.85682	U	0.000000	T	0.36663	0.0975	M	0.90309	3.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.51957	-0.8639	10	0.87932	D	0	-15.7343	16.7053	0.85370	0.0:1.0:0.0:0.0	.	149;149	E9PGK7;O94759	.;TRPM2_HUMAN	R	149	ENSP00000300482:T149R;ENSP00000381023:T149R;ENSP00000300481:T149R;ENSP00000381026:T149R	ENSP00000300481:T149R	T	+	2	0	TRPM2	44611087	1.000000	0.71417	0.902000	0.35471	0.180000	0.23129	5.426000	0.66476	1.995000	0.58328	0.297000	0.19635	ACG		0.617	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307	
PICK1	9463	broad.mit.edu	37	22	38471061	38471061	+	Silent	SNP	G	G	A			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr22:38471061G>A	ENST00000404072.3	+	13	1517	c.1170G>A	c.(1168-1170)acG>acA	p.T390T	RP5-1039K5.13_ENST00000445483.1_RNA|PICK1_ENST00000356976.3_Silent_p.T390T	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	390					ATP catabolic process (GO:0006200)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|dendritic spine maintenance (GO:0097062)|dendritic spine organization (GO:0097061)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|glial cell development (GO:0021782)|long term synaptic depression (GO:0060292)|monoamine transport (GO:0015844)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|neuronal ion channel clustering (GO:0045161)|positive regulation of receptor internalization (GO:0002092)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|protein targeting (GO:0006605)|receptor clustering (GO:0043113)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endocytic vesicle membrane (GO:0030666)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein kinase C binding (GO:0005080)|receptor binding (GO:0005102)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					aggaagaCACGGCAGCTGGGG	0.642																																						uc003auq.3																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(1168-1170)acG>acA		Homo sapiens protein interacting with PRKCA 1 (PICK1), transcript variant 1, mRNA.							50.0	43.0	45.0					22																	38471061		2203	4300	6503	SO:0001819	synonymous_variant	9463				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding	g.chr22:38471061G>A	AL049654	CCDS13965.1	22q13.1	2006-02-14	2006-02-14	2006-02-14	ENSG00000100151	ENSG00000100151			9394	protein-coding gene	gene with protein product		605926	"""protein kinase C, alpha binding protein"", ""protein interacting with PRKCA"""	PRKCABP		10340301, 10591208	Standard	XM_006724377		Approved	dJ1039K5, MGC15204	uc003aus.3	Q9NRD5	OTTHUMG00000151159	ENST00000404072.3:c.1170G>A	22.37:g.38471061G>A						PICK1_uc003aur.3_Silent_p.T390T|PICK1_uc003aus.3_Silent_p.T390T|PICK1_uc003aut.3_Silent_p.T390T	p.T390T	NM_012407	NP_036539	Q9NRD5	PICK1_HUMAN			12	1560	+	Melanoma(58;0.045)		390					B3KS52|O95906	Silent	SNP	ENST00000404072.3	37	c.1170G>A	CCDS13965.1																																																																																				0.642	PICK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321569.2	NM_012407	
RIBC2	26150	broad.mit.edu	37	22	45813805	45813805	+	Missense_Mutation	SNP	C	C	T	rs137932273		TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr22:45813805C>T	ENST00000342894.3	+	3	730	c.316C>T	c.(316-318)Cgt>Tgt	p.R106C	RIBC2_ENST00000538017.1_Missense_Mutation_p.R174C			Q9H4K1	RIBC2_HUMAN	RIB43A domain with coiled-coils 2	106						nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GAAGAACGCCCGTGCTGAACA	0.418													C|||	1	0.000199681	0.0	0.0	5008	,	,		15457	0.0		0.001	False		,,,				2504	0.0					uc011aqs.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10						c.(517-519)Cgt>Tgt		Homo sapiens RIB43A domain with coiled-coils 2 (RIBC2), mRNA.		C	CYS/ARG	0,4406		0,0,2203	33.0	34.0	34.0		519	3.6	0.2	22	dbSNP_134	34	1,8591		0,1,4295	no	missense	RIBC2	NM_015653.3	180	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	174/378	45813805	1,12997	2203	4296	6499	SO:0001583	missense	26150							g.chr22:45813805C>T	AK098586		22q13.3	2004-08-18	2004-08-18	2004-08-18	ENSG00000128408	ENSG00000128408			13241	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 11"""	C22orf11		12477932	Standard	NM_015653		Approved	DKFZp566F0546, FLJ25720	uc011aqs.3	Q9H4K1	OTTHUMG00000151332	ENST00000342894.3:c.316C>T	22.37:g.45813805C>T	ENSP00000342529:p.Arg106Cys						p.R173C	NM_015653	NP_056468	Q9H4K1	RIBC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)	3	726	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	106					Q6ICD0|Q9Y413	Missense_Mutation	SNP	ENST00000342894.3	37	c.517C>T		.	.	.	.	.	.	.	.	.	.	C	15.66	2.899267	0.52227	0.0	1.16E-4	ENSG00000128408	ENST00000342894;ENST00000538017	T;T	0.24538	1.85;1.85	4.6	3.58	0.41010	.	0.463445	0.18560	N	0.137658	T	0.40791	0.1131	.	.	.	0.24893	N	0.992155	D	0.76494	0.999	P	0.60682	0.878	T	0.10965	-1.0607	9	0.56958	D	0.05	-1.2724	9.5593	0.39360	0.0:0.8323:0.0:0.1677	.	106	Q9H4K1	RIBC2_HUMAN	C	106;174	ENSP00000342529:R106C;ENSP00000444196:R174C	ENSP00000342529:R106C	R	+	1	0	RIBC2	44192469	0.009000	0.17119	0.204000	0.23530	0.077000	0.17291	0.683000	0.25349	2.067000	0.61834	0.563000	0.77884	CGT		0.418	RIBC2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000322250.1	NM_015653	
CADPS	8618	broad.mit.edu	37	3	62636671	62636671	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr3:62636671C>T	ENST00000383710.4	-	5	1403	c.1054G>A	c.(1054-1056)Gcc>Acc	p.A352T	CADPS_ENST00000283269.9_Missense_Mutation_p.A352T|CADPS_ENST00000357948.3_Missense_Mutation_p.A352T|CADPS_ENST00000490353.2_Missense_Mutation_p.A352T	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	352					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TCCAAGTTGGCCATGAGCAGG	0.478																																						uc003dll.2																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.(1054-1056)Gcc>Acc		Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.							146.0	135.0	139.0					3																	62636671		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62636671C>T	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.1054G>A	3.37:g.62636671C>T	ENSP00000373215:p.Ala352Thr					CADPS_uc003dlm.2_Missense_Mutation_p.A352T|CADPS_uc003dln.2_Missense_Mutation_p.A352T|CADPS_uc021wzv.1_Missense_Mutation_p.A352T	p.A352T	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	4	1414	-		Lung SC(41;0.0452)	352					A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.1054G>A	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	C	34	5.298949	0.95574	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000490353	T;T;T;T	0.47177	0.86;0.85;0.85;0.85	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.71204	0.3312	M	0.73598	2.24	0.80722	D	1	P;D;D	0.71674	0.635;0.998;0.997	P;D;D	0.78314	0.495;0.991;0.989	T	0.70306	-0.4908	10	0.56958	D	0.05	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	352;352;352	Q9ULU8-2;Q9ULU8-3;Q9ULU8	.;.;CAPS1_HUMAN	T	352	ENSP00000373215:A352T;ENSP00000350632:A352T;ENSP00000283269:A352T;ENSP00000418736:A352T	ENSP00000283269:A352T	A	-	1	0	CADPS	62611711	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.861000	0.98227	0.655000	0.94253	GCC		0.478	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394	
MROH2B	133558	broad.mit.edu	37	5	41070948	41070948	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr5:41070948G>T	ENST00000399564.4	-	1	457	c.7C>A	c.(7-9)Ctt>Att	p.L3I		NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	3																	TCTGTACTAAGTGTCATGTCT	0.398																																						uc003jmj.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						c.(7-9)Ctt>Att		Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.							94.0	88.0	90.0					5																	41070948		1899	4109	6008	SO:0001583	missense	133558						binding	g.chr5:41070948G>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.7C>A	5.37:g.41070948G>T	ENSP00000382476:p.Leu3Ile					HEATR7B2_uc021xxt.1_Missense_Mutation_p.L3I	p.L3I	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			0	497	-			3					Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.7C>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	6.158	0.397439	0.11638	.	.	ENSG00000171495	ENST00000399564	T	0.01197	5.19	5.4	1.51	0.23008	.	.	.	.	.	T	0.00724	0.0024	N	0.08118	0	0.09310	N	1	B	0.16802	0.019	B	0.20384	0.029	T	0.48725	-0.9010	9	0.32370	T	0.25	.	2.3044	0.04170	0.1694:0.1747:0.5081:0.1478	.	3	Q7Z745	HTRB2_HUMAN	I	3	ENSP00000382476:L3I	ENSP00000382476:L3I	L	-	1	0	HEATR7B2	41106705	0.027000	0.19231	0.016000	0.15963	0.024000	0.10985	1.016000	0.29976	0.392000	0.25172	0.655000	0.94253	CTT		0.398	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489	
ENC1	8507	broad.mit.edu	37	5	73931652	73931652	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr5:73931652T>C	ENST00000302351.4	-	2	1789	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	ENC1_ENST00000537006.1_Missense_Mutation_p.Y220C|ENC1_ENST00000510316.1_Missense_Mutation_p.Y147C	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	220					multicellular organismal development (GO:0007275)|negative regulation of translation (GO:0017148)|nervous system development (GO:0007399)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		CTTCAGGTCATAGCTGATCCA	0.512																																						uc003kdc.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20						c.(658-660)tAt>tGt		Homo sapiens ectodermal-neural cortex 1 (with BTB-like domain) (ENC1), mRNA.							89.0	86.0	87.0					5																	73931652		2203	4300	6503	SO:0001583	missense	8507				nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding	g.chr5:73931652T>C	AF059611	CCDS4021.1, CCDS58958.1	5q13	2013-01-30	2013-01-30		ENSG00000171617	ENSG00000171617		"""Kelch-like"", ""BTB/POZ domain containing"""	3345	protein-coding gene	gene with protein product	"""kelch-like family member 37"""	605173	"""ectodermal-neural cortex 1 (with BTB-like domain)"""	NRPB		9305847, 9566959	Standard	NM_003633		Approved	PIG10, ENC-1, TP53I10, KLHL37	uc003kdc.5	O14682	OTTHUMG00000102059	ENST00000302351.4:c.659A>G	5.37:g.73931652T>C	ENSP00000306356:p.Tyr220Cys					ENC1_uc011css.2_Missense_Mutation_p.Y147C|ENC1_uc021yao.1_Missense_Mutation_p.Y220C	p.Y220C	NM_003633	NP_003624	O14682	ENC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)	1	1790	-		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)	220					B4DHJ1|E9PFU0|O75464|Q9UPG9	Missense_Mutation	SNP	ENST00000302351.4	37	c.659A>G	CCDS4021.1	.	.	.	.	.	.	.	.	.	.	T	17.78	3.473183	0.63737	.	.	ENSG00000171617	ENST00000302351;ENST00000510316;ENST00000537006	T;T;T	0.69435	-0.4;-0.4;-0.4	5.8	5.8	0.92144	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.81331	0.4800	M	0.77712	2.385	0.80722	D	1	D	0.64830	0.994	D	0.64687	0.928	D	0.83868	0.0272	10	0.87932	D	0	.	16.1484	0.81586	0.0:0.0:0.0:1.0	.	220	O14682	ENC1_HUMAN	C	220;147;220	ENSP00000306356:Y220C;ENSP00000423804:Y147C;ENSP00000446289:Y220C	ENSP00000306356:Y220C	Y	-	2	0	ENC1	73967408	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	6.187000	0.72039	2.226000	0.72624	0.459000	0.35465	TAT		0.512	ENC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219862.2	NM_003633	
PDGFRB	5159	broad.mit.edu	37	5	149503887	149503887	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr5:149503887G>A	ENST00000261799.4	-	14	2418	c.1949C>T	c.(1948-1950)tCg>tTg	p.S650L		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	650	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTTCAGCTCCGACATAAGGGC	0.637			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																	uc003lro.3				Dom	yes		5	5q31-q32	5159	T	"""platelet-derived growth factor receptor, beta polypeptide"""			L	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""		"""MPD, AML, CMML, CML"""		0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75						c.(1948-1950)tCg>tTg		Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						92.0	72.0	79.0					5																	149503887		2203	4300	6503	SO:0001583	missense	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149503887G>A	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.1949C>T	5.37:g.149503887G>A	ENSP00000261799:p.Ser650Leu					PDGFRB_uc010jhd.3_Missense_Mutation_p.S489L	p.S650L	NM_002609	NP_002600	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		13	2418	-		all_hematologic(541;0.224)	650			Protein kinase.		B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	37	c.1949C>T	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	G	35	5.590431	0.96590	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	D	0.83591	-1.74	5.18	5.18	0.71444	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45361	D	0.000363	D	0.89273	0.6668	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90297	0.4327	10	0.87932	D	0	.	18.685	0.91560	0.0:0.0:1.0:0.0	.	650;650	A8KAM8;P09619	.;PGFRB_HUMAN	L	650;320	ENSP00000261799:S650L	ENSP00000261799:S650L	S	-	2	0	PDGFRB	149484080	1.000000	0.71417	0.968000	0.41197	0.953000	0.61014	7.876000	0.87215	2.397000	0.81536	0.462000	0.41574	TCG		0.637	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609	
SDK1	221935	broad.mit.edu	37	7	4011129	4011129	+	Missense_Mutation	SNP	C	C	A			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr7:4011129C>A	ENST00000404826.2	+	12	1885	c.1746C>A	c.(1744-1746)gaC>gaA	p.D582E	SDK1_ENST00000389531.3_Missense_Mutation_p.D582E	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	582	Ig-like C2-type 6.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CTCCTGAGGACCACGTGGTGA	0.542																																						uc003smx.3																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(1744-1746)gaC>gaA		Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.							93.0	79.0	83.0					7																	4011129		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4011129C>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.1746C>A	7.37:g.4011129C>A	ENSP00000385899:p.Asp582Glu						p.D582E	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	11	1885	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	582			Ig-like C2-type 6.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.1746C>A	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.338340	0.41398	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.78707	-1.2;-1.2	5.39	1.3	0.21679	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.070470	0.53938	D	0.000042	D	0.82921	0.5142	M	0.83384	2.64	0.36700	D	0.880051	D	0.63046	0.992	P	0.55222	0.771	D	0.84490	0.0610	10	0.87932	D	0	.	8.7783	0.34776	0.0:0.5823:0.0:0.4177	.	582	Q7Z5N4	SDK1_HUMAN	E	582	ENSP00000385899:D582E;ENSP00000374182:D582E	ENSP00000374182:D582E	D	+	3	2	SDK1	3977655	0.019000	0.18553	0.475000	0.27278	0.075000	0.17131	0.194000	0.17135	0.176000	0.19873	-0.140000	0.14226	GAC		0.542	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744	
AQP1	358	broad.mit.edu	37	7	30961834	30961834	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr7:30961834C>T	ENST00000311813.4	+	2	593	c.538C>T	c.(538-540)Cac>Tac	p.H180Y	AQP1_ENST00000409899.1_Missense_Mutation_p.H65Y|AQP1_ENST00000509504.1_Missense_Mutation_p.H357Y|AQP1_ENST00000409611.1_Missense_Mutation_p.H129Y|AQP1_ENST00000434909.2_Missense_Mutation_p.H240Y|AQP1_ENST00000482461.1_3'UTR|AQP1_ENST00000441328.2_Missense_Mutation_p.H97Y	NM_198098.2	NP_932766.1	P29972	AQP1_HUMAN	aquaporin 1 (Colton blood group)	180		Substrate discrimination.			ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|camera-type eye morphogenesis (GO:0048593)|carbon dioxide transmembrane transport (GO:0035378)|carbon dioxide transport (GO:0015670)|cation transmembrane transport (GO:0098655)|cell volume homeostasis (GO:0006884)|cellular homeostasis (GO:0019725)|cellular hyperosmotic response (GO:0071474)|cellular response to cAMP (GO:0071320)|cellular response to copper ion (GO:0071280)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to inorganic substance (GO:0071241)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mercury ion (GO:0071288)|cellular response to nitric oxide (GO:0071732)|cellular response to retinoic acid (GO:0071300)|cellular response to salt stress (GO:0071472)|cellular response to stress (GO:0033554)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|cGMP biosynthetic process (GO:0006182)|corticotropin secretion (GO:0051458)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|glomerular filtration (GO:0003094)|glycerol transport (GO:0015793)|hyperosmotic salinity response (GO:0042538)|lateral ventricle development (GO:0021670)|lipid digestion (GO:0044241)|maintenance of symbiont-containing vacuole by host (GO:0085018)|metanephric descending thin limb development (GO:0072220)|metanephric glomerulus vasculature development (GO:0072239)|metanephric proximal convoluted tubule segment 2 development (GO:0072232)|metanephric proximal straight tubule development (GO:0072230)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|nitric oxide transport (GO:0030185)|odontogenesis (GO:0042476)|pancreatic juice secretion (GO:0030157)|positive regulation of angiogenesis (GO:0045766)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of saliva secretion (GO:0046878)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|renal water absorption (GO:0070295)|renal water transport (GO:0003097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|secretory granule organization (GO:0033363)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)|transepithelial water transport (GO:0035377)|transmembrane transport (GO:0055085)|water transport (GO:0006833)|wound healing (GO:0042060)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|symbiont-containing vacuole (GO:0020003)	ammonium transmembrane transporter activity (GO:0008519)|carbon dioxide transmembrane transporter activity (GO:0035379)|glycerol transmembrane transporter activity (GO:0015168)|intracellular cGMP activated cation channel activity (GO:0005223)|nitric oxide transmembrane transporter activity (GO:0030184)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)|transmembrane transporter activity (GO:0022857)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			kidney(1)|large_intestine(2)|lung(9)	12		Melanoma(862;0.16)			Acetazolamide(DB00819)	AGCCCTTGGACACCTCCTGGC	0.692																																						uc003tbv.2																			0				endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(538-540)Cac>Tac		Homo sapiens aquaporin 1 (Colton blood group) (AQP1), transcript variant 1, mRNA.							37.0	32.0	33.0					7																	30961834		2203	4300	6503	SO:0001583	missense	358							g.chr7:30961834C>T	M77829	CCDS5431.1, CCDS55096.1, CCDS55097.1, CCDS55098.1	7p14	2014-07-19	2014-01-02		ENSG00000240583	ENSG00000240583		"""Ion channels / Aquaporins"", ""Blood group antigens"""	633	protein-coding gene	gene with protein product		107776	"""Colton blood group"", ""aquaporin 1 (channel-forming integral protein, 28kDa)"", ""aquaporin 1 (channel-forming integral protein, 28kDa, CO blood group)"", ""aquaporin 1"""	CO		1722319, 3166547	Standard	NM_198098		Approved	CHIP28		P29972	OTTHUMG00000023944	ENST00000311813.4:c.538C>T	7.37:g.30961834C>T	ENSP00000311165:p.His180Tyr					FAM188B_uc011kac.1_Missense_Mutation_p.H240Y|FAM188B_uc010kwf.1_Missense_Mutation_p.H97Y|FAM188B_uc010kwh.1_Missense_Mutation_p.H129Y|FAM188B_uc022abh.1_Missense_Mutation_p.H65Y	p.H180Y	NM_198098	NP_932766	Q4G0A6	F188B_HUMAN			1	648	+			0					B5BU39|E7EM69|E9PC21|F5GY19|Q8TBI5|Q8TDC1	Missense_Mutation	SNP	ENST00000311813.4	37	c.538C>T	CCDS5431.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.293314	0.80914	.	.	ENSG00000240583;ENSG00000240583;ENSG00000240583;ENSG00000240583;ENSG00000240583;ENSG00000240583;ENSG00000240583;ENSG00000250424	ENST00000434909;ENST00000265298;ENST00000311813;ENST00000413400;ENST00000441328;ENST00000409899;ENST00000409611;ENST00000509504	D;D;D;D;D;D	0.93133	-3.17;-3.17;-3.17;-3.17;-3.17;-3.17	5.01	5.01	0.66863	Aquaporin-like (2);	0.097855	0.64402	D	0.000001	D	0.97402	0.9150	M	0.92738	3.34	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.997;0.998;0.997	D	0.98419	1.0576	10	0.87932	D	0	-1.2871	15.8335	0.78778	0.0:1.0:0.0:0.0	.	240;129;65;180	B4E220;E7EM69;E9PC21;P29972	.;.;.;AQP1_HUMAN	Y	240;85;180;165;97;65;129;357	ENSP00000395059:H240Y;ENSP00000311165:H180Y;ENSP00000405698:H97Y;ENSP00000386712:H65Y;ENSP00000387178:H129Y;ENSP00000421315:H357Y	ENSP00000265298:H85Y	H	+	1	0	RP5-877J2.1;AQP1	30928359	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	7.762000	0.85270	2.323000	0.78572	0.561000	0.74099	CAC		0.692	AQP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215002.3	NM_000385	
PKD1L1	168507	broad.mit.edu	37	7	47840381	47840381	+	Missense_Mutation	SNP	G	G	A	rs141837186		TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr7:47840381G>A	ENST00000289672.2	-	54	8109	c.8059C>T	c.(8059-8061)Ccc>Tcc	p.P2687S	C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2687					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AGCAGCCCGGGGAAGGCGTCT	0.577																																						uc003tny.2																		BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(8059-8061)Ccc>Tcc		Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.		G	,SER/PRO	0,4406		0,0,2203	84.0	88.0	86.0		,8059	3.9	0.0	7	dbSNP_134	86	2,8598	2.2+/-6.3	0,2,4298	yes	intron,missense	C7orf69,PKD1L1	NM_025031.2,NM_138295.3	,74	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,possibly-damaging	,2687/2850	47840381	2,13004	2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47840381G>A	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.8059C>T	7.37:g.47840381G>A	ENSP00000289672:p.Pro2687Ser					C7orf69_uc003tnz.4_Intron|C7orf69_uc003toa.1_Intron	p.P2687S	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			53	8093	-			2687					Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.8059C>T	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	G	8.083	0.772783	0.16051	0.0	2.33E-4	ENSG00000158683	ENST00000289672	T	0.17691	2.26	4.79	3.89	0.44902	.	1.589310	0.04506	U	0.382152	T	0.10637	0.0260	N	0.14661	0.345	0.20196	N	0.999927	P	0.35575	0.51	B	0.29077	0.098	T	0.27806	-1.0063	10	0.15499	T	0.54	-0.6144	10.1398	0.42728	0.0:0.0:0.7996:0.2004	.	2687	Q8TDX9	PK1L1_HUMAN	S	2687	ENSP00000289672:P2687S	ENSP00000289672:P2687S	P	-	1	0	PKD1L1	47806906	0.001000	0.12720	0.002000	0.10522	0.006000	0.05464	0.410000	0.21098	0.958000	0.37956	0.563000	0.77884	CCC		0.577	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295	
AKAP9	10142	broad.mit.edu	37	7	91624020	91624020	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr7:91624020A>G	ENST00000359028.2	+	7	923	c.698A>G	c.(697-699)aAg>aGg	p.K233R	AKAP9_ENST00000356239.3_Missense_Mutation_p.K221R|AKAP9_ENST00000394564.1_Missense_Mutation_p.K221R|AKAP9_ENST00000358100.2_Missense_Mutation_p.K233R			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	233	Gln-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGAAGAGAAAAGGATGAGACA	0.318			T	BRAF	papillary thyroid																																	uc003ulg.3				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(661-663)aAg>aGg		Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.							62.0	65.0	64.0					7																	91624020		2203	4296	6499	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91624020A>G	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.698A>G	7.37:g.91624020A>G	ENSP00000351922:p.Lys233Arg					AKAP9_uc003uld.4_Missense_Mutation_p.K221R|AKAP9_uc003ule.2_Missense_Mutation_p.K233R|AKAP9_uc003ulf.3_Missense_Mutation_p.K221R	p.K221R	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		5	887	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		233			Gln-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.662A>G		.	.	.	.	.	.	.	.	.	.	A	16.41	3.116864	0.56505	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565;ENST00000394564;ENST00000438114	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18	4.94	2.55	0.30701	.	0.204916	0.24504	N	0.037945	T	0.63165	0.2488	L	0.27053	0.805	0.42671	D	0.993512	D;D;B;B	0.76494	0.999;0.998;0.36;0.197	D;D;B;B	0.81914	0.995;0.991;0.275;0.119	T	0.56998	-0.7886	10	0.30854	T	0.27	.	9.233	0.37448	0.8533:0.0:0.1467:0.0	.	221;221;233;221	Q99996-2;Q99996-3;A4D1E4;Q6PJH3	.;.;.;.	R	221;233;233;233;233;221;172	ENSP00000348573:K221R;ENSP00000351922:K233R;ENSP00000350813:K233R;ENSP00000378065:K221R;ENSP00000391704:K172R	ENSP00000348573:K221R	K	+	2	0	AKAP9	91461956	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.706000	0.68362	0.324000	0.23333	0.533000	0.62120	AAG		0.318	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751	
RELN	5649	broad.mit.edu	37	7	103191670	103191670	+	Missense_Mutation	SNP	G	G	A	rs374232523		TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr7:103191670G>A	ENST00000428762.1	-	41	6305	c.6146C>T	c.(6145-6147)gCg>gTg	p.A2049V	RELN_ENST00000424685.2_Missense_Mutation_p.A2049V|RELN_ENST00000343529.5_Missense_Mutation_p.A2049V	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2049					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.A2049V(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GTGCCAGGTCGCCCCGAAGTC	0.547													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15683	0.0		0.0	False		,,,				2504	0.0				NSCLC(146;835 1944 15585 22231 52158)	uc022ajr.1																			1	Substitution - Missense(1)	p.A2049V(2)	large_intestine(1)	NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(6145-6147)gCg>gTg		Homo sapiens reelin (RELN), transcript variant 1, mRNA.		G	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	70.0	56.0	61.0		6146,6146	5.7	1.0	7		61	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RELN	NM_005045.3,NM_173054.2	64,64	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	2049/3461,2049/3459	103191670	2,13004	2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103191670G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.6146C>T	7.37:g.103191670G>A	ENSP00000392423:p.Ala2049Val					RELN_uc022ajq.1_Missense_Mutation_p.A2049V|RELN_uc010liz.3_Missense_Mutation_p.A2049V	p.A2049V	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	40	6306	-			2049					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.6146C>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.791303	0.90367	2.27E-4	1.16E-4	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.23348	1.91;1.91;1.91	5.7	5.7	0.88788	Neuraminidase (1);	0.000000	0.85682	D	0.000000	T	0.36496	0.0969	N	0.20401	0.57	0.80722	D	1	P;D	0.76494	0.946;0.999	B;P	0.61874	0.2;0.895	T	0.15065	-1.0450	10	0.54805	T	0.06	.	19.8383	0.96670	0.0:0.0:1.0:0.0	.	2049;2049	P78509-2;P78509	.;RELN_HUMAN	V	2049	ENSP00000392423:A2049V;ENSP00000345694:A2049V;ENSP00000388446:A2049V	ENSP00000345694:A2049V	A	-	2	0	RELN	102978906	1.000000	0.71417	0.993000	0.49108	0.992000	0.81027	9.081000	0.94049	2.683000	0.91414	0.650000	0.86243	GCG		0.547	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
RNF32	140545	broad.mit.edu	37	7	156451221	156451221	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr7:156451221C>G	ENST00000405335.1	+	8	1050	c.641C>G	c.(640-642)cCt>cGt	p.P214R	RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000392741.2_Missense_Mutation_p.P214R|RNF32_ENST00000392743.2_Missense_Mutation_p.P214R|RNF32_ENST00000432459.2_Missense_Mutation_p.P214R|RNF32_ENST00000317955.5_Missense_Mutation_p.P214R|AC005534.8_ENST00000455709.1_RNA|RNF32_ENST00000311822.8_Missense_Mutation_p.P214R|RNF32_ENST00000343665.4_Missense_Mutation_p.P190R			Q9H0A6	RNF32_HUMAN	ring finger protein 32	214	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.					aggresome (GO:0016235)|endosome (GO:0005768)	zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AAAACAGTACCTCCCACAGAT	0.383																																						uc003wmo.3																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15						c.(640-642)cCt>cGt		Homo sapiens ring finger protein 32 (RNF32), transcript variant 3, mRNA.							94.0	99.0	98.0					7																	156451221		2203	4300	6503	SO:0001583	missense	140545					aggresome|endosome	protein binding|zinc ion binding	g.chr7:156451221C>G		CCDS5944.1	7q36	2013-08-05			ENSG00000105982	ENSG00000105982		"""RING-type (C3HC4) zinc fingers"""	17118	protein-coding gene	gene with protein product		610241				11890671	Standard	NM_001184996		Approved	FKSG33, HSD15, LMBR2	uc003wmr.3	Q9H0A6	OTTHUMG00000151440	ENST00000405335.1:c.641C>G	7.37:g.156451221C>G	ENSP00000385285:p.Pro214Arg					RNF32_uc010lql.1_Non-coding_Transcript|RNF32_uc010lqm.3_Missense_Mutation_p.P214R|RNF32_uc003wmq.3_Missense_Mutation_p.P214R|RNF32_uc003wmr.3_Missense_Mutation_p.P214R|RNF32_uc003wms.3_Missense_Mutation_p.P214R|RNF32_uc003wmu.3_Non-coding_Transcript|RNF32_uc003wmt.3_Missense_Mutation_p.P214R	p.P214R	NM_030936	NP_112198	Q9H0A6	RNF32_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	6	871	+	Ovarian(565;0.218)	all_hematologic(28;0.0592)	214			IQ.		Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	Missense_Mutation	SNP	ENST00000405335.1	37	c.641C>G	CCDS5944.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.231232	0.58777	.	.	ENSG00000105982	ENST00000404282;ENST00000432459;ENST00000317955;ENST00000405335;ENST00000311822;ENST00000392743;ENST00000392741;ENST00000343665	T;T;T;T;T;T;T;T	0.50277	0.76;2.18;2.18;2.18;1.78;2.18;0.75;1.89	4.78	4.78	0.61160	.	0.166868	0.53938	D	0.000056	T	0.73799	0.3633	M	0.87038	2.855	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.994;0.994	T	0.79957	-0.1584	10	0.87932	D	0	-19.472	18.2076	0.89859	0.0:1.0:0.0:0.0	.	214;214;214	Q9H0A6-4;G5E940;Q9H0A6	.;.;RNF32_HUMAN	R	214;214;214;214;214;214;214;190	ENSP00000385815:P214R;ENSP00000405588:P214R;ENSP00000315950:P214R;ENSP00000385285:P214R;ENSP00000308894:P214R;ENSP00000376499:P214R;ENSP00000376497:P214R;ENSP00000341185:P190R	ENSP00000308894:P214R	P	+	2	0	RNF32	156143982	0.962000	0.33011	0.079000	0.20413	0.761000	0.43186	4.740000	0.62087	2.369000	0.80426	0.650000	0.86243	CCT		0.383	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322660.2	NM_030936	
LYN	4067	broad.mit.edu	37	8	56863056	56863056	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr8:56863056A>G	ENST00000519728.1	+	5	619	c.323A>G	c.(322-324)aAa>aGa	p.K108R	LYN_ENST00000520220.2_Missense_Mutation_p.K87R	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	108	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	CTTTTAACAAAAAAAGAAGGC	0.388																																						uc003xsk.4																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						c.(322-324)aAa>aGa		Homo sapiens v-yes-1 Yamaguchi sarcoma viral related oncogene homolog (LYN), transcript variant 1, mRNA.							203.0	203.0	203.0					8																	56863056		2203	4300	6503	SO:0001583	missense	4067				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity	g.chr8:56863056A>G	M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"""SH2 domain containing"""	6735	protein-coding gene	gene with protein product		165120	"""v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"""			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.323A>G	8.37:g.56863056A>G	ENSP00000428924:p.Lys108Arg					LYN_uc003xsl.4_Missense_Mutation_p.K87R	p.K108R	NM_002350	NP_002341	P07948	LYN_HUMAN	Epithelial(17;0.000834)|all cancers(17;0.00598)		4	605	+		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	108			SH3.		A0AVQ5	Missense_Mutation	SNP	ENST00000519728.1	37	c.323A>G	CCDS6162.1	.	.	.	.	.	.	.	.	.	.	A	13.18	2.159879	0.38119	.	.	ENSG00000254087	ENST00000519728;ENST00000520220;ENST00000520050	T;T;T	0.21932	1.98;1.98;1.98	5.6	4.43	0.53597	Src homology-3 domain (3);	0.144579	0.64402	N	0.000006	T	0.11623	0.0283	N	0.11560	0.145	0.36549	D	0.871734	B;B	0.09022	0.002;0.001	B;B	0.17979	0.02;0.006	T	0.12293	-1.0553	10	0.34782	T	0.22	.	10.2274	0.43233	0.8614:0.0:0.1386:0.0	.	178;108	Q6NUK7;P07948	.;LYN_HUMAN	R	108;87;108	ENSP00000428924:K108R;ENSP00000428424:K87R;ENSP00000428313:K108R	ENSP00000428924:K108R	K	+	2	0	LYN	57025610	1.000000	0.71417	0.994000	0.49952	0.902000	0.53008	2.156000	0.42310	0.953000	0.37825	-0.290000	0.09829	AAA		0.388	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378155.1	NM_002350	
TRAM1	23471	broad.mit.edu	37	8	71510232	71510256	+	Splice_Site	DEL	TCGCCTGTTAATTTTCTAAAAATAA	TCGCCTGTTAATTTTCTAAAAATAA	-	rs200161704		TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr8:71510232_71510256delTCGCCTGTTAATTTTCTAAAAATAA	ENST00000262213.2	-	4	479_493	c.310_324delTTATTTTTAGAAAATTAACAGGCGA	c.(310-324)ttatttttagaaaatdel	p.LFLEN104fs	TRAM1_ENST00000521425.1_Splice_Site_p.LFLEN18fs|TRAM1_ENST00000521049.1_5'UTR|TRAM1_ENST00000536748.1_Splice_Site_p.LFLEN73fs	NM_014294.5	NP_055109.1	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	104					cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.R108*(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			AGAAGTGCATTCGCCTGTTAATTTTCTAAAAATAAAAACAGCCAT	0.307																																					Ovarian(85;984 1334 5116 12432 40638)	uc003xyo.2																			1	Substitution - Nonsense(1)	p.R108*(1)	large_intestine(1)	endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17						c.e4-1		Homo sapiens translocation associated membrane protein 1 (TRAM1), mRNA.																																				SO:0001630	splice_region_variant	23471				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity	g.chr8:71510232_71510256delTCGCCTGTTAATTTTCTAAAAATAA	X63679	CCDS6207.1	8q13.1	2004-01-22			ENSG00000067167	ENSG00000067167			20568	protein-coding gene	gene with protein product		605190				1315422	Standard	NM_014294		Approved	TRAM, TRAMP	uc003xyo.2	Q15629	OTTHUMG00000164428	ENST00000262213.2:c.310-1TTATTTTTAGAAAATTAACAGGCGA>-	8.37:g.71510232_71510256delTCGCCTGTTAATTTTCTAAAAATAA						TRAM1_uc011lfc.2_Splice_Site_p.K73_splice	p.K104_splice	NM_014294	NP_055109	Q15629	TRAM1_HUMAN	Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)		4	570	-			104					B4E0K2	Splice_Site	DEL	ENST00000262213.2	37	c.310_splice	CCDS6207.1																																																																																				0.307	TRAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378738.1	NM_014294	Frame_Shift_Del
COL14A1	7373	broad.mit.edu	37	8	121219270	121219270	+	Silent	SNP	C	C	T			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr8:121219270C>T	ENST00000297848.3	+	10	1398	c.1128C>T	c.(1126-1128)gcC>gcT	p.A376A	COL14A1_ENST00000537875.1_Silent_p.A376A|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Silent_p.A281A|COL14A1_ENST00000309791.4_Silent_p.A376A	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GGACTCATGCCCCAGGAAATG	0.428																																						uc003yox.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(1126-1128)gcC>gcT		Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.							67.0	63.0	65.0					8																	121219270		2203	4300	6503	SO:0001819	synonymous_variant	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121219270C>T		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.1128C>T	8.37:g.121219270C>T						COL14A1_uc003yoy.3_Silent_p.A54A|COL14A1_uc010mde.1_Silent_p.A54A	p.A376A	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		9	1393	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		376			Fibronectin type-III 2.			Silent	SNP	ENST00000297848.3	37	c.1128C>T	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	C	9.398	1.077169	0.20227	.	.	ENSG00000187955	ENST00000523142	.	.	.	5.82	3.04	0.35103	.	.	.	.	.	T	0.47619	0.1455	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35325	-0.9793	4	.	.	.	.	4.3998	0.11381	0.3658:0.4104:0.0:0.2237	.	.	.	.	S	133	.	.	P	+	1	0	COL14A1	121288451	0.380000	0.25131	1.000000	0.80357	0.881000	0.50899	-0.382000	0.07408	0.808000	0.34231	0.591000	0.81541	CCC		0.428	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110	
FOXB2	442425	broad.mit.edu	37	9	79635212	79635212	+	Silent	SNP	C	C	T			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr9:79635212C>T	ENST00000376708.1	+	1	642	c.642C>T	c.(640-642)ccC>ccT	p.P214P		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	214					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|lung(8)|ovary(1)	10						CGTCTCACCCCGGCAAGATGC	0.751																																						uc004ako.1																			0				breast(1)|lung(8)|ovary(1)	10						c.(640-642)ccC>ccT		Homo sapiens forkhead box B2 (FOXB2), mRNA.							6.0	8.0	7.0					9																	79635212		1884	3772	5656	SO:0001819	synonymous_variant	442425				brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:79635212C>T		CCDS35045.1	9q21.2	2008-02-05			ENSG00000204612	ENSG00000204612		"""Forkhead boxes"""	23315	protein-coding gene	gene with protein product							Standard	NM_001013735		Approved	bA159H20.4	uc004ako.1	Q5VYV0	OTTHUMG00000020051	ENST00000376708.1:c.642C>T	9.37:g.79635212C>T							p.P214P	NM_001013735	NP_001013757	Q5VYV0	FOXB2_HUMAN			0	642	+			214						Silent	SNP	ENST00000376708.1	37	c.642C>T	CCDS35045.1																																																																																				0.751	FOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052745.1	NM_001013735	
OR13C4	138804	broad.mit.edu	37	9	107289309	107289309	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr9:107289309A>G	ENST00000277216.3	-	1	181	c.182T>C	c.(181-183)tTc>tCc	p.F61S		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	61						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						GCCCAGGAAGAAGTACATGGG	0.418																																						uc011lvn.2																			0				breast(1)|large_intestine(2)|lung(14)|skin(1)	18						c.(181-183)tTc>tCc		Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.							153.0	126.0	135.0					9																	107289309		2203	4300	6503	SO:0001583	missense	138804				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107289309A>G		CCDS35088.1	9q31.1	2013-09-24			ENSG00000148136	ENSG00000148136		"""GPCR / Class A : Olfactory receptors"""	14722	protein-coding gene	gene with protein product							Standard	NM_001001919		Approved		uc011lvn.2	Q8NGS5	OTTHUMG00000020407	ENST00000277216.3:c.182T>C	9.37:g.107289309A>G	ENSP00000277216:p.Phe61Ser						p.F61S	NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN			0	182	-			61					Q6IF51|Q96R41	Missense_Mutation	SNP	ENST00000277216.3	37	c.182T>C	CCDS35088.1	.	.	.	.	.	.	.	.	.	.	A	16.27	3.077217	0.55753	.	.	ENSG00000148136	ENST00000277216;ENST00000545903	T	0.00966	5.49	4.45	4.45	0.53987	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	U	0.000151	T	0.07188	0.0182	M	0.92459	3.31	0.29268	N	0.870875	D	0.76494	0.999	D	0.69824	0.966	T	0.01496	-1.1340	10	0.87932	D	0	.	11.98	0.53115	1.0:0.0:0.0:0.0	.	61	Q8NGS5	O13C4_HUMAN	S	61;90	ENSP00000277216:F61S	ENSP00000277216:F61S	F	-	2	0	OR13C4	106329130	1.000000	0.71417	1.000000	0.80357	0.621000	0.37620	7.071000	0.76770	1.982000	0.57802	0.482000	0.46254	TTC		0.418	OR13C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053478.1		
SMC1A	8243	broad.mit.edu	37	X	53432322	53432322	+	Splice_Site	SNP	G	G	T			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chrX:53432322G>T	ENST00000322213.4	-	12	2040	c.1913C>A	c.(1912-1914)aCa>aAa	p.T638K	SMC1A_ENST00000375340.6_Splice_Site_p.T404K	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	638	Flexible hinge.				DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CAGTGCCACTGTCTACACACA	0.562																																						uc004dsg.3																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						c.e12-1		Homo sapiens structural maintenance of chromosomes 1A (SMC1A), mRNA.							36.0	32.0	33.0					X																	53432322		2203	4300	6503	SO:0001630	splice_region_variant	8243				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	g.chrX:53432322G>T	S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.1912-1C>A	X.37:g.53432322G>T						SMC1A_uc011moe.2_Splice_Site_p.T616_splice|SMC1A_uc011mof.2_Splice_Site_p.T404_splice	p.T638_splice	NM_006306	NP_006297	Q14683	SMC1A_HUMAN			12	1981	-			638			Flexible hinge.		O14995|Q16351|Q2M228	Missense_Mutation	SNP	ENST00000322213.4	37	c.1912_splice	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378105	0.82682	.	.	ENSG00000072501	ENST00000322213;ENST00000375340	D;D	0.86097	-2.07;-2.07	4.89	4.89	0.63831	SMCs flexible hinge (1);RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.86518	0.5952	M	0.61703	1.905	0.80722	D	1	P;D;P	0.63046	0.936;0.992;0.935	B;P;B	0.48089	0.238;0.566;0.313	D	0.88567	0.3127	10	0.72032	D	0.01	.	16.1667	0.81768	0.0:0.0:1.0:0.0	.	404;616;638	B7Z709;Q6MZR8;Q14683	.;.;SMC1A_HUMAN	K	638;404	ENSP00000323421:T638K;ENSP00000364489:T404K	ENSP00000323421:T638K	T	-	2	0	SMC1A	53449047	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	9.279000	0.95777	2.423000	0.82170	0.529000	0.55759	ACA		0.562	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306	Missense_Mutation
SATL1	340562	broad.mit.edu	37	X	84347411	84347411	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chrX:84347411C>G	ENST00000395409.3	-	6	2073	c.1513G>C	c.(1513-1515)Gca>Cca	p.A505P	SATL1_ENST00000509231.1_3'UTR|SATL1_ENST00000332921.5_3'UTR			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	505	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.						N-acetyltransferase activity (GO:0008080)			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						TCTTCCCATGCCATGTCCAGG	0.458																																						uc004een.3																			0				NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29								Homo sapiens spermidine/spermine N1-acetyl transferase-like 1 (SATL1), mRNA.							198.0	142.0	159.0					X																	84347411		692	1591	2283	SO:0001583	missense	340562						N-acetyltransferase activity	g.chrX:84347411C>G	BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.1513G>C	X.37:g.84347411C>G	ENSP00000378804:p.Ala505Pro					APOOL_uc004eem.3_3'UTR|APOOL_uc010nmp.3_Non-coding_Transcript		NM_001012980	NP_001012998	Q86VE3	SATL1_HUMAN			4		-								A0AVK7|E9PB72|Q5H8V9	Missense_Mutation	SNP	ENST00000395409.3	37			.	.	.	.	.	.	.	.	.	.	C	11.39	1.624626	0.28889	.	.	ENSG00000184788	ENST00000395409	T	0.24151	1.87	5.62	3.83	0.44106	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (1);	.	.	.	.	T	0.46268	0.1384	.	.	.	0.09310	N	0.999995	D	0.76494	0.999	D	0.74348	0.983	T	0.29912	-0.9996	8	0.87932	D	0	-2.7961	7.6352	0.28261	0.1621:0.751:0.0:0.0868	.	505	Q86VE3	SATL1_HUMAN	P	505	ENSP00000378804:A505P	ENSP00000378804:A505P	A	-	1	0	SATL1	84234067	1.000000	0.71417	0.001000	0.08648	0.005000	0.04900	1.644000	0.37228	0.523000	0.28482	-0.305000	0.09177	GCA		0.458	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_291339	
