#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PRAMEF11	440560	broad.mit.edu	37	1	12884845	12884845	+	Silent	SNP	G	G	A			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr1:12884845G>A	ENST00000535591.1	-	4	1461	c.1266C>T	c.(1264-1266)ggC>ggT	p.G422G	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	422					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ATGACCTGTCGCCATGGTCAG	0.473																																						ENST00000535591.1																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(1264-1266)ggC>ggT		PRAME family member 11							57.0	45.0	49.0					1																	12884845		692	1590	2282	SO:0001819	synonymous_variant	440560							g.chr1:12884845G>A	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.1266C>T	1.37:g.12884845G>A							p.G422G	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			4	1461	-			422						Silent	SNP	ENST00000535591.1	37	c.1266C>T	CCDS53268.1																																																																																				0.473	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		11	367	11	367	---	---	---	---
VCAM1	7412	broad.mit.edu	37	1	101188742	101188742	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr1:101188742C>G	ENST00000294728.2	+	3	608	c.507C>G	c.(505-507)gaC>gaG	p.D169E	VCAM1_ENST00000347652.2_Missense_Mutation_p.D169E|VCAM1_ENST00000370119.4_Missense_Mutation_p.D107E|VCAM1_ENST00000370115.1_Missense_Mutation_p.D169E	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	169	Ig-like C2-type 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	AGGATGCAGACAGGAAGTCCC	0.418																																						ENST00000294728.2																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(505-507)gaC>gaG		vascular cell adhesion molecule 1	Carvedilol(DB01136)						105.0	98.0	100.0					1																	101188742		2203	4299	6502	SO:0001583	missense	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101188742C>G	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.507C>G	1.37:g.101188742C>G	ENSP00000294728:p.Asp169Glu					VCAM1_ENST00000347652.2_Missense_Mutation_p.D169E|VCAM1_ENST00000370119.4_Missense_Mutation_p.D107E|VCAM1_ENST00000370115.1_Missense_Mutation_p.D169E	p.D169E	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	3	608	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	169			Ig-like C2-type 2.		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	ENST00000294728.2	37	c.507C>G	CCDS773.1	.	.	.	.	.	.	.	.	.	.	C	0.842	-0.741489	0.03088	.	.	ENSG00000162692	ENST00000370119;ENST00000347652;ENST00000294728;ENST00000370115	T;T;T;T	0.18810	2.19;2.19;2.19;2.19	5.63	-11.3	0.00108	Immunoglobulin C2-set (1);Immunoglobulin-like fold (1);	0.930593	0.09179	N	0.837743	T	0.01592	0.0051	N	0.25825	0.765	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.35847	-0.9772	10	0.02654	T	1	4.0E-4	2.4176	0.04440	0.3672:0.147:0.3512:0.1346	.	107;169;169	E9PDD1;P19320-2;P19320	.;.;VCAM1_HUMAN	E	107;169;169;169	ENSP00000359137:D107E;ENSP00000304611:D169E;ENSP00000294728:D169E;ENSP00000359133:D169E	ENSP00000294728:D169E	D	+	3	2	VCAM1	100961330	0.000000	0.05858	0.000000	0.03702	0.458000	0.32498	-5.770000	0.00099	-2.251000	0.00700	0.591000	0.81541	GAC		0.418	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		13	43	13	43	---	---	---	---
GDAP2	54834	broad.mit.edu	37	1	118455305	118455305	+	Splice_Site	SNP	C	C	A			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr1:118455305C>A	ENST00000369443.5	-	4	566	c.317G>T	c.(316-318)gGg>gTg	p.G106V	GDAP2_ENST00000369442.3_Splice_Site_p.G106V	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	106	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.		G -> S (in dbSNP:rs12753610).		response to retinoic acid (GO:0032526)	lysosomal membrane (GO:0005765)				kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		TGTTCGGCACCCTGAAAACAA	0.388																																						ENST00000369443.5																			0				kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16						c.(316-318)gGg>gTg		ganglioside induced differentiation associated protein 2							105.0	97.0	100.0					1																	118455305		2203	4300	6503	SO:0001630	splice_region_variant	54834							g.chr1:118455305C>A	AK000149	CCDS897.1, CCDS44201.1	1q11	2011-10-20			ENSG00000196505	ENSG00000196505			18010	protein-coding gene	gene with protein product						1021725	Standard	NM_017686		Approved	FLJ20142, dJ776P7.1, MACROD3	uc001ehf.3	Q9NXN4	OTTHUMG00000012199	ENST00000369443.5:c.317-1G>T	1.37:g.118455305C>A						GDAP2_ENST00000369442.3_Splice_Site_p.G106V	p.G106V	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)	4	566	-		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)			G -> S (in dbSNP:rs12753610).	Macro.		Q96DZ0	Splice_Site	SNP	ENST00000369443.5	37	c.317G>T	CCDS897.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.650960	0.87958	.	.	ENSG00000196505	ENST00000369443;ENST00000369442	T;T	0.24350	1.86;1.86	5.9	5.9	0.94986	Appr-1-p processing (2);	0.000000	0.85682	D	0.000000	T	0.51652	0.1687	M	0.82517	2.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.986;0.992	T	0.54912	-0.8222	10	0.72032	D	0.01	.	20.3298	0.98711	0.0:1.0:0.0:0.0	.	106;106	Q9NXN4-2;Q9NXN4	.;GDAP2_HUMAN	V	106	ENSP00000358451:G106V;ENSP00000358450:G106V	ENSP00000358450:G106V	G	-	2	0	GDAP2	118256828	1.000000	0.71417	0.999000	0.59377	0.789000	0.44602	7.804000	0.85993	2.810000	0.96702	0.585000	0.79938	GGG		0.388	GDAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033732.2	NM_017686	Missense_Mutation	4	76	4	76	---	---	---	---
TNN	63923	broad.mit.edu	37	1	175054615	175054615	+	Silent	SNP	C	C	T			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr1:175054615C>T	ENST00000239462.4	+	6	1422	c.1309C>T	c.(1309-1311)Ctg>Ttg	p.L437L		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	437	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCCGATCCTCCTGAATGGCAG	0.517																																						ENST00000239462.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(1309-1311)Ctg>Ttg		tenascin N							65.0	56.0	59.0					1																	175054615		2203	4300	6503	SO:0001819	synonymous_variant	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175054615C>T	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.1309C>T	1.37:g.175054615C>T							p.L437L	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	6	1422	+		Breast(1374;0.000962)	437			Fibronectin type-III 2.		B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	37	c.1309C>T	CCDS30943.1																																																																																				0.517	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		6	12	6	12	---	---	---	---
GTF3C2	2976	broad.mit.edu	37	2	27564920	27564920	+	Silent	SNP	G	G	T			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr2:27564920G>T	ENST00000359541.2	-	4	1179	c.750C>A	c.(748-750)ctC>ctA	p.L250L	AC109828.1_ENST00000590383.1_RNA|AC109828.1_ENST00000588707.1_RNA|AC109828.1_ENST00000587586.1_RNA|AC109828.1_ENST00000589853.1_RNA|GTF3C2_ENST00000264720.3_Silent_p.L250L|AC109828.1_ENST00000589232.1_RNA			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	250					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCAACCTGGAGAAAAAAGT	0.562																																						ENST00000359541.2																			0				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38						c.(748-750)ctC>ctA		general transcription factor IIIC, polypeptide 2, beta 110kDa							83.0	74.0	77.0					2																	27564920		2203	4300	6503	SO:0001819	synonymous_variant	2976					transcription factor TFIIIC complex		g.chr2:27564920G>T	D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"""General transcription factors"", ""WD repeat domain containing"""	4665	protein-coding gene	gene with protein product		604883	"""general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"""			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.750C>A	2.37:g.27564920G>T						GTF3C2_ENST00000264720.3_Silent_p.L250L|AC109828.1_ENST00000590383.1_RNA	p.L250L			Q8WUA4	TF3C2_HUMAN			4	1179	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		250					D6W557|Q16632|Q9BWI7	Silent	SNP	ENST00000359541.2	37	c.750C>A	CCDS1749.1																																																																																				0.562	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215028.2			5	95	5	95	---	---	---	---
WDR54	84058	broad.mit.edu	37	2	74652599	74652599	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr2:74652599C>A	ENST00000348227.4	+	9	942	c.854C>A	c.(853-855)cCa>cAa	p.P285Q	WDR54_ENST00000409791.1_Missense_Mutation_p.P233Q|WDR54_ENST00000461531.1_3'UTR	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54	285										breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						AGCAGAAACCCAGAGAGTGGC	0.602																																						ENST00000348227.4																			0				breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						c.(853-855)cCa>cAa		WD repeat domain 54							86.0	87.0	87.0					2																	74652599		2203	4300	6503	SO:0001583	missense	84058							g.chr2:74652599C>A	AK023015	CCDS1940.1	2p13.1	2013-01-09			ENSG00000005448	ENSG00000005448		"""WD repeat domain containing"""	25770	protein-coding gene	gene with protein product						12477932	Standard	NM_032118		Approved	FLJ12953	uc002slb.3	Q9H977	OTTHUMG00000129951	ENST00000348227.4:c.854C>A	2.37:g.74652599C>A	ENSP00000006526:p.Pro285Gln					WDR54_ENST00000409791.1_Missense_Mutation_p.P233Q|WDR54_ENST00000461531.1_3'UTR	p.P285Q	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN			9	942	+			285					D6W5I3|Q53H85|Q86V45	Missense_Mutation	SNP	ENST00000348227.4	37	c.854C>A	CCDS1940.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.883091	0.33255	.	.	ENSG00000005448	ENST00000409791;ENST00000348227	T	0.48201	0.82	4.61	3.73	0.42828	WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.34803	0.0910	L	0.47716	1.5	0.46798	D	0.999203	P	0.38642	0.641	B	0.36030	0.216	T	0.09015	-1.0694	10	0.10111	T	0.7	-4.2672	9.8383	0.40982	0.0:0.9022:0.0:0.0978	.	285	Q9H977	WDR54_HUMAN	Q	233;285	ENSP00000006526:P285Q	ENSP00000006526:P285Q	P	+	2	0	WDR54	74506107	0.482000	0.25948	0.985000	0.45067	0.993000	0.82548	2.972000	0.49256	1.167000	0.42706	0.561000	0.74099	CCA		0.602	WDR54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252213.1	NM_032118		5	156	5	156	---	---	---	---
SUMO1	7341	broad.mit.edu	37	2	203071992	203071992	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr2:203071992C>A	ENST00000392246.2	-	5	446	c.290G>T	c.(289-291)gGt>gTt	p.G97V	SUMO1_ENST00000409205.1_Missense_Mutation_p.G58V|SUMO1_ENST00000409712.1_Missense_Mutation_p.G73V|SUMO1_ENST00000392245.1_Missense_Mutation_p.G97V|SUMO1_ENST00000392244.3_Missense_Mutation_p.G72V|SUMO1_ENST00000409181.1_3'UTR|SUMO1_ENST00000409498.2_Missense_Mutation_p.G58V|SUMO1_ENST00000409368.1_Missense_Mutation_p.G142V|SUMO1_ENST00000469034.1_5'UTR	NM_003352.4	NP_003343.1	P63165	SUMO1_HUMAN	small ubiquitin-like modifier 1	97	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|DNA repair (GO:0006281)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of DNA binding (GO:0043392)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|PML body organization (GO:0030578)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein complex assembly (GO:0031334)|post-translational protein modification (GO:0043687)|protein localization to nuclear pore (GO:0090204)|protein sumoylation (GO:0016925)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of protein localization (GO:0032880)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)										TGTTGAATGACCCCCCGTTTG	0.303																																						ENST00000392246.2																			0											c.(289-291)gGt>gTt		small ubiquitin-like modifier 1							139.0	159.0	152.0					2																	203071992		2203	4298	6501	SO:0001583	missense	7341				DNA repair|interferon-gamma-mediated signaling pathway|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|palate development|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein complex assembly|protein sumoylation|regulation of interferon-gamma-mediated signaling pathway|regulation of protein localization	cytoplasm|nuclear membrane|nuclear pore|nuclear speck	ubiquitin protein ligase binding	g.chr2:203071992C>A	U38784	CCDS2352.1, CCDS46493.1	2q33	2013-06-05	2013-06-05	2004-05-19	ENSG00000116030	ENSG00000116030			12502	protein-coding gene	gene with protein product		601912	"""ubiquitin-like 1 (sentrin)"", ""SMT3 suppressor of mif two 3 homolog 1 (yeast)"", ""SMT3 suppressor of mif two 3 homolog 1 (S. cerevisiae)"""	UBL1		8812453, 8906799	Standard	NM_003352		Approved	PIC1, GMP1, SMT3C, SUMO-1, SMT3H3, OFC10	uc002uyz.1	P63165	OTTHUMG00000132839	ENST00000392246.2:c.290G>T	2.37:g.203071992C>A	ENSP00000376077:p.Gly97Val					SUMO1_ENST00000409498.2_Missense_Mutation_p.G58V|SUMO1_ENST00000409205.1_Missense_Mutation_p.G58V|SUMO1_ENST00000469034.1_5'UTR|SUMO1_ENST00000392244.3_Missense_Mutation_p.G72V|SUMO1_ENST00000392245.1_Missense_Mutation_p.G97V|SUMO1_ENST00000409712.1_Missense_Mutation_p.G73V|SUMO1_ENST00000409368.1_Missense_Mutation_p.G142V|SUMO1_ENST00000409181.1_3'UTR	p.G97V	NM_003352.4	NP_003343.1	P63165	SUMO1_HUMAN			5	446	-			97			Ubiquitin-like.		A8MUS8|B2R4I5|P55856|Q6FGG0|Q6NZ62|Q93068	Missense_Mutation	SNP	ENST00000392246.2	37	c.290G>T	CCDS2352.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835004	0.71373	.	.	ENSG00000116030	ENST00000392246;ENST00000392245;ENST00000409368;ENST00000392244;ENST00000409712;ENST00000409498;ENST00000409205	T;T;T;T;T;T;T	0.59772	0.24;0.24;0.68;0.24;0.24;0.24;0.24	5.74	5.74	0.90152	Ubiquitin supergroup (1);	0.000000	0.85682	D	0.000000	D	0.82688	0.5091	H	0.95850	3.73	0.80722	D	1	D;B	0.60575	0.988;0.448	P;B	0.58970	0.849;0.315	D	0.87922	0.2704	10	0.87932	D	0	-15.2225	19.9219	0.97089	0.0:1.0:0.0:0.0	.	72;97	A8MUS8;P63165	.;SUMO1_HUMAN	V	97;97;142;72;73;58;58	ENSP00000376077:G97V;ENSP00000376076:G97V;ENSP00000387204:G142V;ENSP00000376075:G72V;ENSP00000386296:G73V;ENSP00000386472:G58V;ENSP00000386267:G58V	ENSP00000376075:G72V	G	-	2	0	SUMO1	202780237	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.142000	0.77339	2.697000	0.92050	0.655000	0.94253	GGT		0.303	SUMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256312.2	NM_003352		6	286	6	286	---	---	---	---
SP110	3431	broad.mit.edu	37	2	231033887	231033887	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr2:231033887G>A	ENST00000358662.4	-	18	2101	c.2023C>T	c.(2023-2025)Ctc>Ttc	p.L675F	AC009950.2_ENST00000609120.1_RNA|AC009950.2_ENST00000445199.1_RNA|AC009950.2_ENST00000595586.2_RNA|AC009950.2_ENST00000600787.1_RNA|AC009950.2_ENST00000594622.1_RNA|SP110_ENST00000258381.6_Missense_Mutation_p.L699F|AC009950.2_ENST00000454058.1_RNA	NM_004509.3	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	675	Bromo.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		TGAAAACCGAGCACGTCTTTG	0.458																																						ENST00000258381.6																			0				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2095-2097)Ctc>Ttc		SP110 nuclear body protein							183.0	189.0	187.0					2																	231033887		2203	4300	6503	SO:0001583	missense	3431				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding	g.chr2:231033887G>A	L22343	CCDS2474.1, CCDS2475.1, CCDS2476.1, CCDS54435.1	2q37.1	2014-09-17	2001-12-19	2001-12-20	ENSG00000135899	ENSG00000135899			5401	protein-coding gene	gene with protein product		604457	"""interferon-induced protein 41, 30kD"""	IFI41, IFI75		7693701, 10388521	Standard	NM_080424		Approved		uc002vqg.3	Q9HB58	OTTHUMG00000133204	ENST00000358662.4:c.2023C>T	2.37:g.231033887G>A	ENSP00000351488:p.Leu675Phe					AC009950.2_ENST00000609120.1_RNA|SP110_ENST00000358662.4_Missense_Mutation_p.L675F	p.L699F	NM_080424.2	NP_536349	Q9HB58	SP110_HUMAN		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)	19	2172	-		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)	675					B4DVI4|F5H1M1|Q14976|Q14977|Q53TG2|Q8WUZ6|Q9HCT8	Missense_Mutation	SNP	ENST00000358662.4	37	c.2095C>T	CCDS2474.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.906750	0.00512	.	.	ENSG00000135899	ENST00000258381;ENST00000358662	T;T	0.44482	0.92;0.92	3.02	-3.65	0.04502	Bromodomain (2);	.	.	.	.	T	0.08802	0.0218	N	0.00251	-1.775	0.09310	N	0.999998	B;B	0.09022	0.0;0.002	B;B	0.12156	0.001;0.007	T	0.36553	-0.9743	9	0.02654	T	1	.	9.2559	0.37584	0.7275:0.0:0.2725:0.0	.	675;699	Q9HB58;Q9HB58-6	SP110_HUMAN;.	F	699;675	ENSP00000258381:L699F;ENSP00000351488:L675F	ENSP00000258381:L699F	L	-	1	0	SP110	230742131	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-1.307000	0.02733	-0.924000	0.03780	-0.670000	0.03821	CTC		0.458	SP110-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000332414.1	NM_080424		74	151	74	151	---	---	---	---
CLASP2	23122	broad.mit.edu	37	3	33552113	33552113	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr3:33552113T>C	ENST00000468888.2	-	37	4324	c.4278A>G	c.(4276-4278)atA>atG	p.I1426M	CLASP2_ENST00000480013.1_Missense_Mutation_p.I1205M|CLASP2_ENST00000359576.5_Missense_Mutation_p.I1417M|CLASP2_ENST00000461133.3_Missense_Mutation_p.I1185M|CLASP2_ENST00000399362.4_Missense_Mutation_p.I1425M|CLASP2_ENST00000307312.7_Missense_Mutation_p.I907M|CLASP2_ENST00000539981.1_3'UTR			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	1206					axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						ACACTCTCTCTATCACTTTTG	0.413																																						ENST00000399362.4																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(4273-4275)atA>atG		cytoplasmic linker associated protein 2							202.0	177.0	185.0					3																	33552113		1888	4125	6013	SO:0001583	missense	23122							g.chr3:33552113T>C	AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.4278A>G	3.37:g.33552113T>C	ENSP00000419974:p.Ile1426Met					CLASP2_ENST00000480013.1_Missense_Mutation_p.I1205M|CLASP2_ENST00000359576.5_Missense_Mutation_p.I1417M|CLASP2_ENST00000461133.3_Missense_Mutation_p.I1185M|CLASP2_ENST00000468888.2_Missense_Mutation_p.I1426M|CLASP2_ENST00000307312.7_Missense_Mutation_p.I907M|CLASP2_ENST00000539981.1_3'UTR	p.I1425M	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN			37	4628	-			1427					Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	ENST00000468888.2	37	c.4275A>G		.	.	.	.	.	.	.	.	.	.	T	16.43	3.120485	0.56613	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000480013;ENST00000461133	T;T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4;-0.4	5.88	-3.7	0.04437	.	0.167258	0.56097	D	0.000036	T	0.58409	0.2120	L	0.41961	1.31	0.46149	D	0.998895	B;B	0.32893	0.053;0.389	B;B	0.38921	0.032;0.285	T	0.57877	-0.7735	10	0.66056	D	0.02	-22.9986	14.5524	0.68075	0.0839:0.0:0.6022:0.3139	.	1417;1425	F5H604;E7ERI8	.;.	M	1426;1425;1417;907;1205;1185	ENSP00000419974:I1426M;ENSP00000382297:I1425M;ENSP00000352581:I1417M;ENSP00000304743:I907M;ENSP00000417518:I1205M;ENSP00000419305:I1185M	ENSP00000304743:I907M	I	-	3	3	CLASP2	33527117	0.899000	0.30636	0.990000	0.47175	0.992000	0.81027	-0.078000	0.11375	-0.451000	0.07097	0.533000	0.62120	ATA		0.413	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044		9	61	9	61	---	---	---	---
MYRIP	25924	broad.mit.edu	37	3	40211572	40211572	+	Silent	SNP	C	C	A			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr3:40211572C>A	ENST00000302541.6	+	8	1203	c.861C>A	c.(859-861)ccC>ccA	p.P287P	MYRIP_ENST00000396217.3_Silent_p.P198P|MYRIP_ENST00000425621.1_Silent_p.P287P|MYRIP_ENST00000539167.1_Silent_p.P100P|MYRIP_ENST00000444716.1_Silent_p.P287P|MYRIP_ENST00000459828.1_3'UTR	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	287	Myosin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		ACCGTGCTCCCGCTGCCCTCT	0.597																																						ENST00000302541.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(859-861)ccC>ccA		myosin VIIA and Rab interacting protein							76.0	69.0	71.0					3																	40211572		2203	4300	6503	SO:0001819	synonymous_variant	25924				intracellular protein transport		actin binding|zinc ion binding	g.chr3:40211572C>A	AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"""A-kinase anchor proteins"""	19156	protein-coding gene	gene with protein product	"""synaptotagmin-like protein homologue lacking C2 domains-c"", ""rab effector MYRIP"", ""Slp homologue lacking C2 domains"""	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.861C>A	3.37:g.40211572C>A						MYRIP_ENST00000425621.1_Silent_p.P287P|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000396217.3_Silent_p.P198P|MYRIP_ENST00000444716.1_Silent_p.P287P|MYRIP_ENST00000539167.1_Silent_p.P100P	p.P287P	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)	8	1203	+			287			Myosin-binding.		B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Silent	SNP	ENST00000302541.6	37	c.861C>A	CCDS2689.1																																																																																				0.597	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460		4	88	4	88	---	---	---	---
SLC2A9	56606	broad.mit.edu	37	4	9982359	9982359	+	Missense_Mutation	SNP	C	C	T	rs370374119		TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr4:9982359C>T	ENST00000264784.3	-	5	591	c.538G>A	c.(538-540)Gtc>Atc	p.V180I	SLC2A9_ENST00000506583.1_Missense_Mutation_p.V151I|SLC2A9_ENST00000309065.3_Missense_Mutation_p.V151I	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	180					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	CTGAGGGCGACGCCTGTAGAG	0.557																																						ENST00000506583.1																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						c.(451-453)Gtc>Atc		solute carrier family 2 (facilitated glucose transporter), member 9							60.0	57.0	58.0					4																	9982359		2203	4300	6503	SO:0001583	missense	56606				glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	g.chr4:9982359C>T	AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"""Solute carriers"""	13446	protein-coding gene	gene with protein product	"""urate voltage-driven efflux transporter 1"""	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.538G>A	4.37:g.9982359C>T	ENSP00000264784:p.Val180Ile					SLC2A9_ENST00000309065.3_Missense_Mutation_p.V151I|SLC2A9_ENST00000264784.3_Missense_Mutation_p.V180I	p.V151I			Q9NRM0	GTR9_HUMAN			7	668	-			180					Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Missense_Mutation	SNP	ENST00000264784.3	37	c.451G>A	CCDS3407.1	.	.	.	.	.	.	.	.	.	.	C	0.101	-1.151846	0.01700	.	.	ENSG00000109667	ENST00000506583;ENST00000264784;ENST00000309065;ENST00000513129	T;T;T;T	0.80738	-0.8;-1.41;-0.8;-0.8	4.77	2.26	0.28386	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.310256	0.32753	N	0.005697	T	0.48132	0.1483	N	0.01202	-0.96	0.22280	N	0.999236	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.39099	-0.9630	9	.	.	.	.	6.1634	0.20376	0.0:0.0881:0.1614:0.7505	.	151;180	Q9NRM0-2;Q9NRM0	.;GTR9_HUMAN	I	151;180;151;151	ENSP00000422209:V151I;ENSP00000264784:V180I;ENSP00000311383:V151I;ENSP00000426800:V151I	.	V	-	1	0	SLC2A9	9591457	1.000000	0.71417	0.899000	0.35326	0.225000	0.24961	0.960000	0.29253	0.173000	0.19788	-0.295000	0.09555	GTC		0.557	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207055.1			4	43	4	43	---	---	---	---
MAML3	55534	broad.mit.edu	37	4	140641036	140641036	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr4:140641036A>T	ENST00000509479.2	-	5	3714	c.2858T>A	c.(2857-2859)aTg>aAg	p.M953K	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GACTGTTCCCATAAGGCTCTG	0.577																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(2857-2859)aTg>aAg		mastermind-like 3 (Drosophila)							61.0	65.0	64.0					4																	140641036		2026	4181	6207	SO:0001583	missense	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140641036A>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.2858T>A	4.37:g.140641036A>T	ENSP00000421180:p.Met953Lys					MGST2_ENST00000515137.1_Intron	p.M953K	NM_018717.4	NP_061187	Q96JK9	MAML3_HUMAN			5	3714	-	all_hematologic(180;0.162)		949			Gln-rich.			Missense_Mutation	SNP	ENST00000509479.2	37	c.2858T>A	CCDS54805.1	.	.	.	.	.	.	.	.	.	.	A	13.52	2.262826	0.39995	.	.	ENSG00000196782	ENST00000509479;ENST00000538400	T	0.27890	1.64	4.86	4.86	0.63082	.	0.054609	0.64402	D	0.000001	T	0.38108	0.1028	M	0.78637	2.42	0.80722	D	1	B;B	0.31730	0.337;0.337	B;B	0.32211	0.142;0.142	T	0.39035	-0.9633	10	0.56958	D	0.05	.	14.7684	0.69657	1.0:0.0:0.0:0.0	.	953;949	E7EVW8;Q96JK9	.;MAML3_HUMAN	K	953;260	ENSP00000421180:M953K	ENSP00000421180:M953K	M	-	2	0	MAML3	140860486	1.000000	0.71417	0.996000	0.52242	0.506000	0.33950	7.620000	0.83070	1.946000	0.56461	0.482000	0.46254	ATG		0.577	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			55	79	55	79	---	---	---	---
DCHS2	54798	broad.mit.edu	37	4	155157178	155157178	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr4:155157178A>G	ENST00000357232.4	-	25	7260	c.7261T>C	c.(7261-7263)Ttt>Ctt	p.F2421L		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2421	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATGGGCTCAAATTCATCTATC	0.433																																						ENST00000357232.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(7261-7263)Ttt>Ctt		dachsous cadherin-related 2							84.0	84.0	84.0					4																	155157178		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155157178A>G	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.7261T>C	4.37:g.155157178A>G	ENSP00000349768:p.Phe2421Leu						p.F2421L	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	7260	-	all_hematologic(180;0.208)	Renal(120;0.0854)				Cadherin 21.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.7261T>C	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	A	28.4	4.914243	0.92178	.	.	ENSG00000197410	ENST00000357232	T	0.60424	0.19	6.04	6.04	0.98038	Cadherin (3);Cadherin-like (1);	0.073912	0.56097	D	0.000031	T	0.73753	0.3627	M	0.86953	2.85	0.80722	D	1	D	0.59767	0.986	P	0.53649	0.731	T	0.76782	-0.2832	10	0.41790	T	0.15	.	16.5885	0.84745	1.0:0.0:0.0:0.0	.	2421	Q6V1P9	PCD23_HUMAN	L	2421	ENSP00000349768:F2421L	ENSP00000349768:F2421L	F	-	1	0	DCHS2	155376628	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	9.339000	0.96797	2.317000	0.78254	0.460000	0.39030	TTT		0.433	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		3	53	3	53	---	---	---	---
FSTL5	56884	broad.mit.edu	37	4	162680679	162680679	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr4:162680679A>G	ENST00000306100.5	-	6	1047	c.611T>C	c.(610-612)aTa>aCa	p.I204T	FSTL5_ENST00000379164.4_Missense_Mutation_p.I203T|FSTL5_ENST00000427802.2_Missense_Mutation_p.I203T|FSTL5_ENST00000536695.1_Missense_Mutation_p.I203T	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	204	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TTCCTGTTTTATCACCTAACA	0.274																																						ENST00000306100.5																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(610-612)aTa>aCa		follistatin-like 5							75.0	81.0	79.0					4																	162680679		2203	4300	6503	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162680679A>G	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.611T>C	4.37:g.162680679A>G	ENSP00000305334:p.Ile204Thr					FSTL5_ENST00000536695.1_Missense_Mutation_p.I203T|FSTL5_ENST00000379164.4_Missense_Mutation_p.I203T|FSTL5_ENST00000427802.2_Missense_Mutation_p.I203T	p.I204T	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	6	1047	-	all_hematologic(180;0.24)		204			EF-hand 1.		E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.611T>C	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	A	13.57	2.277475	0.40294	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.21191	2.02;2.02;2.02;2.02	5.37	5.37	0.77165	EF-hand-like domain (1);	0.046510	0.85682	D	0.000000	T	0.33089	0.0851	L	0.50333	1.59	0.58432	D	0.999998	D;B;D	0.63880	0.979;0.274;0.993	P;B;P	0.57101	0.628;0.135;0.813	T	0.02713	-1.1120	10	0.22706	T	0.39	.	14.5345	0.67950	1.0:0.0:0.0:0.0	.	203;203;204	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	T	204;203;203;203	ENSP00000305334:I204T;ENSP00000368462:I203T;ENSP00000389270:I203T;ENSP00000440409:I203T	ENSP00000305334:I204T	I	-	2	0	FSTL5	162900129	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	6.778000	0.75043	2.030000	0.59900	0.472000	0.43445	ATA		0.274	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		11	53	11	53	---	---	---	---
CLCN3	1182	broad.mit.edu	37	4	170625197	170625197	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr4:170625197G>C	ENST00000513761.1	+	10	2171	c.1612G>C	c.(1612-1614)Gga>Cga	p.G538R	CLCN3_ENST00000347613.4_Missense_Mutation_p.G538R|CLCN3_ENST00000504131.2_Missense_Mutation_p.G521R|CLCN3_ENST00000360642.3_Missense_Mutation_p.G511R	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	538					chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		AGCGATCGCAGGAAGGATTGT	0.507																																						ENST00000513761.1																			0				breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29						c.(1612-1614)Gga>Cga		chloride channel, voltage-sensitive 3							219.0	183.0	195.0					4																	170625197		2203	4300	6503	SO:0001583	missense	1182				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity	g.chr4:170625197G>C	X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"""Ion channels / Chloride channels : Voltage-sensitive"""	2021	protein-coding gene	gene with protein product		600580	"""chloride channel 3"""				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.1612G>C	4.37:g.170625197G>C	ENSP00000424603:p.Gly538Arg					CLCN3_ENST00000360642.3_Missense_Mutation_p.G511R|CLCN3_ENST00000504131.2_Missense_Mutation_p.G521R|CLCN3_ENST00000347613.4_Missense_Mutation_p.G538R	p.G538R	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)	10	2171	+		Prostate(90;0.00601)|Renal(120;0.0183)	538					B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Missense_Mutation	SNP	ENST00000513761.1	37	c.1612G>C	CCDS34101.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.64|19.64	3.865395|3.865395	0.71949|0.71949	.|.	.|.	ENSG00000109572|ENSG00000109572	ENST00000513761;ENST00000347613;ENST00000360642;ENST00000504131;ENST00000507875|ENST00000515420	D;D;D;D;D|.	0.99701|.	-6.45;-6.45;-6.45;-6.45;-6.45|.	5.22|5.22	5.22|5.22	0.72569|0.72569	Chloride channel, core (2);|.	0.046822|.	0.85682|.	D|.	0.000000|.	D|D	0.91798|0.91798	0.7405|0.7405	H|H	0.99454|0.99454	4.575|4.575	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.76494|.	0.998;0.999;0.999;0.998;0.999|.	D;D;D;D;D|.	0.83275|.	0.996;0.996;0.996;0.996;0.992|.	D|D	0.95287|0.95287	0.8391|0.8391	10|5	0.87932|.	D|.	0|.	-2.8959|-2.8959	19.2046|19.2046	0.93724|0.93724	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	511;521;511;538;538|.	B7Z932;B9EGJ9;E9PE15;P51790;P51790-2|.	.;.;.;CLCN3_HUMAN;.|.	R|H	538;538;511;521;511|192	ENSP00000424603:G538R;ENSP00000261514:G538R;ENSP00000353857:G511R;ENSP00000424540:G521R;ENSP00000425323:G511R|.	ENSP00000261514:G538R|.	G|Q	+|+	1|3	0|2	CLCN3|CLCN3	170861772|170861772	1.000000|1.000000	0.71417|0.71417	0.135000|0.135000	0.22099|0.22099	0.322000|0.322000	0.28314|0.28314	9.810000|9.810000	0.99221|0.99221	2.616000|2.616000	0.88540|0.88540	0.549000|0.549000	0.68633|0.68633	GGA|CAG		0.507	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2			13	70	13	70	---	---	---	---
HAPLN1	1404	broad.mit.edu	37	5	82940276	82940276	+	Silent	SNP	C	C	A			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr5:82940276C>A	ENST00000274341.4	-	4	1531	c.681G>T	c.(679-681)ggG>ggT	p.G227G		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	227	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	TGTTCTGCCCCCCACAGGGCT	0.517																																						ENST00000274341.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34						c.(679-681)ggG>ggT		hyaluronan and proteoglycan link protein 1							52.0	59.0	57.0					5																	82940276		2203	4300	6503	SO:0001819	synonymous_variant	1404				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr5:82940276C>A		CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"""Immunoglobulin superfamily / V-set domain containing"""	2380	protein-coding gene	gene with protein product	"""Cartilage link protein"", ""hyaluronan and proteoglycan link protein 1"""	115435	"""cartilage linking protein 1"""	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.681G>T	5.37:g.82940276C>A							p.G227G	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	4	1531	-		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)	227			Link 1.		B2R9A9	Silent	SNP	ENST00000274341.4	37	c.681G>T	CCDS4061.1																																																																																				0.517	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884		19	87	19	87	---	---	---	---
CLINT1	9685	broad.mit.edu	37	5	157218974	157218974	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr5:157218974C>A	ENST00000411809.2	-	10	1321	c.1117G>T	c.(1117-1119)Ggt>Tgt	p.G373C	CLINT1_ENST00000523094.1_Missense_Mutation_p.G355C|CLINT1_ENST00000530742.1_Missense_Mutation_p.G355C|CLINT1_ENST00000523908.1_Missense_Mutation_p.G373C|CLINT1_ENST00000296951.5_Missense_Mutation_p.G355C	NM_014666.3	NP_055481.1	Q14677	EPN4_HUMAN	clathrin interactor 1	373					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)	clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|lipid binding (GO:0008289)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTCCAGTCACCAAAGTCTCCA	0.468																																					Colon(22;427 587 2170 6147 14291)	ENST00000523094.1																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21						c.(1063-1065)Ggt>Tgt		clathrin interactor 1							77.0	80.0	79.0					5																	157218974		2043	4204	6247	SO:0001583	missense	9685				endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding	g.chr5:157218974C>A	AF434813	CCDS47330.1, CCDS56388.1, CCDS56389.1	5q33.3	2006-06-13			ENSG00000113282	ENSG00000113282			23186	protein-coding gene	gene with protein product		607265				12213833, 12429846	Standard	NM_014666		Approved	ENTH, KIAA0171, EPNR, CLINT	uc011ddv.2	Q14677	OTTHUMG00000163527	ENST00000411809.2:c.1117G>T	5.37:g.157218974C>A	ENSP00000388340:p.Gly373Cys					CLINT1_ENST00000523908.1_Missense_Mutation_p.G373C|CLINT1_ENST00000411809.2_Missense_Mutation_p.G373C|CLINT1_ENST00000530742.1_Missense_Mutation_p.G355C|CLINT1_ENST00000296951.5_Missense_Mutation_p.G355C	p.G355C	NM_001195555.1|NM_001195556.1	NP_001182484.1|NP_001182485.1	Q14677	EPN4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		10	1268	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	373					B7Z6F8|D3DQJ6|Q8NAF1|Q96E05	Missense_Mutation	SNP	ENST00000411809.2	37	c.1063G>T	CCDS47330.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.1|27.1	4.801226|4.801226	0.90538|0.90538	.|.	.|.	ENSG00000113282|ENSG00000113282	ENST00000523094;ENST00000530742;ENST00000411809;ENST00000296951;ENST00000523908|ENST00000521615	T;T;T;T;T|.	0.52754|.	0.65;0.65;0.74;0.65;0.67|.	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71091|0.71091	0.3299|0.3299	L|L	0.49126|0.49126	1.545|1.545	0.80722|0.80722	D|D	1|1	B;B|.	0.33135|.	0.399;0.233|.	B;B|.	0.27796|.	0.079;0.083|.	T|T	0.65651|0.65651	-0.6116|-0.6116	10|5	0.59425|.	D|.	0.04|.	-29.1061|-29.1061	20.051|20.051	0.97627|0.97627	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	373;373|.	B7Z6F8;Q14677|.	.;EPN4_HUMAN|.	C|L	355;355;373;355;373|64	ENSP00000429345:G355C;ENSP00000433419:G355C;ENSP00000388340:G373C;ENSP00000296951:G355C;ENSP00000429824:G373C|.	ENSP00000296951:G355C|.	G|W	-|-	1|2	0|0	CLINT1|CLINT1	157151552|157151552	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.343000|7.343000	0.79319|0.79319	2.740000|2.740000	0.93945|0.93945	0.650000|0.650000	0.86243|0.86243	GGT|TGG		0.468	CLINT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374001.1	NM_014666		4	71	4	71	---	---	---	---
LINC00336	401253	broad.mit.edu	37	6	33561062	33561062	+	RNA	SNP	C	C	T			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr6:33561062C>T	ENST00000477984.1	-	0	53					NR_027908.1		Q6ZUF6	NC336_HUMAN	long intergenic non-protein coding RNA 336																		CCACGACTGCCAGGCCACCCC	0.687																																						ENST00000477984.1																			0																				20.0	18.0	19.0					6																	33561062		2196	4292	6488			401253							g.chr6:33561062C>T	AK125740		6p21.31	2012-10-12	2011-08-10	2011-08-10	ENSG00000197251	ENSG00000197251		"""Long non-coding RNAs"""	33813	non-coding RNA	RNA, long non-coding			"""chromosome 6 open reading frame 227"", ""non-protein coding RNA 336"""	C6orf227, NCRNA00336			Standard	NR_027908		Approved	FLJ43752	uc003oew.1	Q6ZUF6	OTTHUMG00000159733		6.37:g.33561062C>T								NR_027908.1						0	53	-									RNA	SNP	ENST00000477984.1	37																																																																																						0.687	LINC00336-001	KNOWN	basic	antisense	antisense	OTTHUMT00000357085.1			7	15	7	15	---	---	---	---
TMEM217	221468	broad.mit.edu	37	6	37186257	37186257	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr6:37186257T>C	ENST00000336655.2	-	2	589	c.550A>G	c.(550-552)Att>Gtt	p.I184V	TMEM217_ENST00000356757.2_Missense_Mutation_p.I184V|TMEM217_ENST00000497775.1_Intron	NM_145316.3	NP_660359.2	Q8N7C4	TM217_HUMAN	transmembrane protein 217	184						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						ccACTCGAAATTGATAATCTT	0.478																																						ENST00000336655.2																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						c.(550-552)Att>Gtt		transmembrane protein 217							59.0	63.0	62.0					6																	37186257		2203	4300	6503	SO:0001583	missense	221468					integral to membrane		g.chr6:37186257T>C		CCDS4831.1, CCDS69102.1	6p21.31-p21.2	2008-10-20	2008-07-07	2008-07-07	ENSG00000172738	ENSG00000172738			21238	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 128"""	C6orf128			Standard	NM_001162900		Approved	dJ355M6.2	uc010jws.3	Q8N7C4	OTTHUMG00000014618	ENST00000336655.2:c.550A>G	6.37:g.37186257T>C	ENSP00000338164:p.Ile184Val					TMEM217_ENST00000356757.2_Missense_Mutation_p.I184V|TMEM217_ENST00000497775.1_Intron	p.I184V	NM_145316.3	NP_660359.2	Q8N7C4	TM217_HUMAN			2	589	-			184					Q8TC54	Missense_Mutation	SNP	ENST00000336655.2	37	c.550A>G	CCDS4831.1	.	.	.	.	.	.	.	.	.	.	t	0.008	-1.887541	0.00527	.	.	ENSG00000172738	ENST00000356757;ENST00000336655	.	.	.	3.56	-4.09	0.03951	.	.	.	.	.	T	0.02848	0.0085	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44544	-0.9321	8	0.07482	T	0.82	-1.0846	9.683	0.40080	0.0:0.2152:0.0:0.7848	.	184;184	Q8N7C4-2;Q8N7C4	.;TM217_HUMAN	V	184	.	ENSP00000338164:I184V	I	-	1	0	TMEM217	37294235	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.525000	0.06214	-0.938000	0.03714	-1.564000	0.00881	ATT		0.478	TMEM217-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357542.1	NM_145316		4	113	4	113	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51613252	51613252	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr6:51613252C>A	ENST00000371117.3	-	58	9437	c.9162G>T	c.(9160-9162)gaG>gaT	p.E3054D	PKHD1_ENST00000340994.4_Missense_Mutation_p.E3054D	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3054					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGGCCTGACCCTCTAAATCTA	0.498																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(9160-9162)gaG>gaT		polycystic kidney and hepatic disease 1 (autosomal recessive)							98.0	89.0	92.0					6																	51613252		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51613252C>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.9162G>T	6.37:g.51613252C>A	ENSP00000360158:p.Glu3054Asp					PKHD1_ENST00000340994.4_Missense_Mutation_p.E3054D	p.E3054D	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			58	9437	-	Lung NSC(77;0.0605)		3054					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.9162G>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.539959	0.27563	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.80214	-1.35;-1.3	5.86	1.13	0.20643	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.067410	0.64402	D	0.000011	T	0.58652	0.2137	L	0.42245	1.32	0.29806	N	0.832011	P;B;P	0.49447	0.807;0.424;0.924	B;B;P	0.49276	0.349;0.121;0.605	T	0.53920	-0.8370	10	0.23891	T	0.37	.	4.5504	0.12108	0.151:0.3813:0.0:0.4678	.	3054;3054;3054	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	D	3054	ENSP00000360158:E3054D;ENSP00000341097:E3054D	ENSP00000341097:E3054D	E	-	3	2	PKHD1	51721211	0.979000	0.34478	0.999000	0.59377	0.942000	0.58702	-0.040000	0.12104	0.120000	0.18254	0.655000	0.94253	GAG		0.498	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		4	95	4	95	---	---	---	---
PREP	5550	broad.mit.edu	37	6	105821366	105821366	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr6:105821366A>C	ENST00000369110.3	-	5	665	c.473T>G	c.(472-474)gTt>gGt	p.V158G		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	158					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	GGCACCATCAACTTTCATGAA	0.473																																						ENST00000369110.3																			0				breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(472-474)gTt>gGt		prolyl endopeptidase	Oxytocin(DB00107)						149.0	128.0	135.0					6																	105821366		2203	4300	6503	SO:0001583	missense	5550				proteolysis		serine-type endopeptidase activity	g.chr6:105821366A>C		CCDS5053.1	6q22	2008-02-05			ENSG00000085377	ENSG00000085377	3.4.21.26		9358	protein-coding gene	gene with protein product		600400				7959018	Standard	NM_002726		Approved		uc003prc.3	P48147	OTTHUMG00000015297	ENST00000369110.3:c.473T>G	6.37:g.105821366A>C	ENSP00000358106:p.Val158Gly						p.V158G	NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN			5	665	-		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)	158					Q8N6D4	Missense_Mutation	SNP	ENST00000369110.3	37	c.473T>G	CCDS5053.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.421455	0.83559	.	.	ENSG00000085377	ENST00000369110	T	0.48201	0.82	6.02	6.02	0.97574	Peptidase S9A, oligopeptidase, N-terminal (1);Peptidase S9A/B/C, oligopeptidase, N-terminal beta-propeller (2);	0.000000	0.85682	D	0.000000	T	0.73313	0.3571	M	0.92784	3.345	0.80722	D	1	P	0.34977	0.478	P	0.60415	0.874	T	0.76482	-0.2943	10	0.87932	D	0	-25.8368	16.542	0.84395	1.0:0.0:0.0:0.0	.	158	P48147	PPCE_HUMAN	G	158	ENSP00000358106:V158G	ENSP00000358106:V158G	V	-	2	0	PREP	105928059	1.000000	0.71417	0.957000	0.39632	0.996000	0.88848	8.962000	0.93254	2.304000	0.77564	0.528000	0.53228	GTT		0.473	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041658.1			10	83	10	83	---	---	---	---
EGFR	1956	broad.mit.edu	37	7	55240710	55240710	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr7:55240710G>T	ENST00000275493.2	+	17	2131	c.1954G>T	c.(1954-1956)Ggg>Tgg	p.G652W	EGFR_ENST00000454757.2_Missense_Mutation_p.G599W|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.G607W	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	652					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TGGGATGGTGGGGGCCCTCCT	0.622		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		0				NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(1954-1956)Ggg>Tgg		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						92.0	81.0	85.0					7																	55240710		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55240710G>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1954G>T	7.37:g.55240710G>T	ENSP00000275493:p.Gly652Trp	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.G599W|EGFR_ENST00000455089.1_Missense_Mutation_p.G607W	p.G652W	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		17	2131	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		652					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1954G>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.055048	0.55325	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757;ENST00000533450	T;T;T	0.78003	-1.13;-1.14;-1.13	5.67	4.79	0.61399	.	0.000000	0.85682	D	0.000000	D	0.88753	0.6522	M	0.87758	2.905	0.58432	D	0.999999	D;D	0.89917	1.0;0.988	D;D	0.80764	0.994;0.984	D	0.90403	0.4404	10	0.87932	D	0	.	13.2044	0.59787	0.0773:0.0:0.9227:0.0	.	607;652	Q504U8;P00533	.;EGFR_HUMAN	W	607;522;652;599;446	ENSP00000415559:G607W;ENSP00000275493:G652W;ENSP00000395243:G599W	ENSP00000275493:G652W	G	+	1	0	EGFR	55208204	1.000000	0.71417	0.334000	0.25495	0.205000	0.24178	9.412000	0.97347	1.375000	0.46248	0.655000	0.94253	GGG		0.622	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		5	106	5	106	---	---	---	---
ANK1	286	broad.mit.edu	37	8	41557063	41557063	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr8:41557063T>G	ENST00000347528.4	-	23	2548	c.2465A>C	c.(2464-2466)gAa>gCa	p.E822A	ANK1_ENST00000352337.4_Missense_Mutation_p.E822A|ANK1_ENST00000265709.8_Missense_Mutation_p.E863A|ANK1_ENST00000396945.1_Missense_Mutation_p.E822A|ANK1_ENST00000379758.2_Missense_Mutation_p.E822A|ANK1_ENST00000396942.1_Missense_Mutation_p.E822A|ANK1_ENST00000289734.7_Missense_Mutation_p.E822A	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	822	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GATGAGTTCTTCCCCTGAAAC	0.522																																						ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(2464-2466)gAa>gCa		ankyrin 1, erythrocytic							101.0	96.0	98.0					8																	41557063		2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41557063T>G	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.2465A>C	8.37:g.41557063T>G	ENSP00000339620:p.Glu822Ala					ANK1_ENST00000379758.2_Missense_Mutation_p.E822A|ANK1_ENST00000289734.7_Missense_Mutation_p.E822A|ANK1_ENST00000352337.4_Missense_Mutation_p.E822A|ANK1_ENST00000347528.4_Missense_Mutation_p.E822A|ANK1_ENST00000396945.1_Missense_Mutation_p.E822A|ANK1_ENST00000265709.8_Missense_Mutation_p.E863A	p.E822A			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		23	2548	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	822			89 kDa domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.2465A>C	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	T	12.01	1.810435	0.32053	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.66995	-0.23;-0.24;-0.21;-0.19;-0.21;-0.2;-0.15	5.49	5.49	0.81192	.	0.164003	0.52532	D	0.000061	T	0.75206	0.3818	M	0.81802	2.56	0.58432	D	0.999994	P;B;B;B;P;B	0.36465	0.554;0.027;0.008;0.003;0.554;0.004	P;B;B;B;P;B	0.48488	0.579;0.051;0.016;0.016;0.579;0.004	T	0.72050	-0.4407	10	0.18710	T	0.47	.	12.9644	0.58475	0.0:0.0:0.0:1.0	.	863;822;822;822;822;138	P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.;.;ANK1_HUMAN;.;.;.	A	822;822;822;822;822;822;863;822	ENSP00000339620:E822A;ENSP00000289734:E822A;ENSP00000369082:E822A;ENSP00000380149:E822A;ENSP00000380147:E822A;ENSP00000309131:E822A;ENSP00000265709:E863A	ENSP00000265709:E863A	E	-	2	0	ANK1	41676220	1.000000	0.71417	0.995000	0.50966	0.107000	0.19398	4.400000	0.59709	2.085000	0.62840	0.533000	0.62120	GAA		0.522	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		50	155	50	155	---	---	---	---
ZNF462	58499	broad.mit.edu	37	9	109736551	109736551	+	Silent	SNP	C	C	A			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr9:109736551C>A	ENST00000277225.5	+	9	7118	c.6829C>A	c.(6829-6831)Cga>Aga	p.R2277R	RP11-508N12.2_ENST00000439901.1_RNA|ZNF462_ENST00000441147.2_Silent_p.R1183R|ZNF462_ENST00000542028.1_Silent_p.R234R|ZNF462_ENST00000457913.1_Silent_p.R2337R			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2277				Missing (in Ref. 4; AK027866). {ECO:0000305}.	chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CGTGCTGCACCGAGGTAACCT	0.547																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(6829-6831)Cga>Aga		zinc finger protein 462							277.0	266.0	270.0					9																	109736551		2203	4300	6503	SO:0001819	synonymous_variant	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109736551C>A	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.6829C>A	9.37:g.109736551C>A						ZNF462_ENST00000457913.1_Silent_p.R2337R|ZNF462_ENST00000441147.2_Silent_p.R1183R|ZNF462_ENST00000542028.1_Silent_p.R234R	p.R2277R			Q96JM2	ZN462_HUMAN			9	7118	+			2277	Missing (in Ref. 4; AK027866).				Q5T0T4|Q8N408	Silent	SNP	ENST00000277225.5	37	c.6829C>A	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	C	9.815	1.184248	0.21870	.	.	ENSG00000148143	ENST00000427098	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	T	0.65048	0.2654	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62310	-0.6881	4	.	.	.	.	13.3263	0.60461	0.2534:0.7466:0.0:0.0	.	.	.	.	Q	178	.	.	P	+	2	0	ZNF462	108776372	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.163000	0.50763	2.662000	0.90505	0.557000	0.71058	CCG		0.547	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		7	376	7	376	---	---	---	---
ENKUR	219670	broad.mit.edu	37	10	25304914	25304914	+	De_novo_Start_OutOfFrame	SNP	C	C	A			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr10:25304914C>A	ENST00000331161.4	-	0	171				THNSL1_ENST00000376356.4_5'Flank|THNSL1_ENST00000524413.1_5'Flank|ENKUR_ENST00000376363.1_De_novo_Start_OutOfFrame	NM_145010.3	NP_659447.1	Q8TC29	ENKUR_HUMAN	enkurin, TRPC channel interacting protein							motile cilium (GO:0031514)				endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						TTTTTTCTCCCTGTCCCAGTA	0.473																																						ENST00000331161.4																			0				endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10								enkurin, TRPC channel interacting protein							83.0	79.0	81.0					10																	25304914		2203	4300	6503			219670					cilium|flagellum	calmodulin binding|SH3 domain binding	g.chr10:25304914C>A	AK095021	CCDS7146.1, CCDS73075.1	10p12.31	2014-08-13	2009-04-28	2009-04-28	ENSG00000151023	ENSG00000151023			28388	protein-coding gene	gene with protein product		611025	"""chromosome 10 open reading frame 63"""	C10orf63		17217053, 15385169	Standard	NM_145010		Approved	MGC26778, enkurin, CFAP106	uc001isg.2	Q8TC29	OTTHUMG00000017827	ENST00000331161.4:c.-49G>T	10.37:g.25304914C>A						ENKUR_ENST00000376363.1_De_novo_Start_OutOfFrame		NM_145010.3	NP_659447.1	Q8TC29	ENKUR_HUMAN			0	171	-								A8K8Y0|D3DRV2	Translation_Start_Site	SNP	ENST00000331161.4	37		CCDS7146.1																																																																																				0.473	ENKUR-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047239.2	NM_145010		4	39	4	39	---	---	---	---
CSGALNACT2	55454	broad.mit.edu	37	10	43650664	43650664	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr10:43650664T>A	ENST00000374466.3	+	2	402	c.67T>A	c.(67-69)Tgc>Agc	p.C23S	CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.C23S	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	23					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TGCTTTGCTCTGCAGTTTGGT	0.438																																						ENST00000374466.3																			0				endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(67-69)Tgc>Agc		chondroitin sulfate N-acetylgalactosaminyltransferase 2							118.0	103.0	108.0					10																	43650664		2203	4300	6503	SO:0001583	missense	55454				chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	g.chr10:43650664T>A	AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"""Beta 4-glycosyltransferases"""	24292	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"""					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.67T>A	10.37:g.43650664T>A	ENSP00000363590:p.Cys23Ser					CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.C23S	p.C23S	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN			2	402	+			23					B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Missense_Mutation	SNP	ENST00000374466.3	37	c.67T>A	CCDS7201.1	.	.	.	.	.	.	.	.	.	.	T	14.36	2.513092	0.44660	.	.	ENSG00000169826	ENST00000374466;ENST00000374464	T;T	0.23754	1.92;1.89	5.86	5.86	0.93980	.	0.193780	0.56097	D	0.000030	T	0.27559	0.0677	L	0.49778	1.585	0.27360	N	0.955988	B;B	0.17465	0.022;0.008	B;B	0.15052	0.012;0.009	T	0.10847	-1.0612	10	0.41790	T	0.15	-7.8942	16.2644	0.82568	0.0:0.0:0.0:1.0	.	23;23	Q8N6G5;Q8N6G5-2	CGAT2_HUMAN;.	S	23	ENSP00000363590:C23S;ENSP00000363588:C23S	ENSP00000363588:C23S	C	+	1	0	CSGALNACT2	42970670	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.862000	0.48388	2.244000	0.73946	0.528000	0.53228	TGC		0.438	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590		5	84	5	84	---	---	---	---
WAPAL	23063	broad.mit.edu	37	10	88277723	88277723	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr10:88277723C>A	ENST00000298767.5	-	2	576	c.104G>T	c.(103-105)tGg>tTg	p.W35L		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	35	Mediates interaction with the cohesin complex.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						GGTCTCTCCCCATTTTGTGCT	0.403																																						ENST00000298767.5																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						c.(103-105)tGg>tTg		wings apart-like homolog (Drosophila)							85.0	82.0	83.0					10																	88277723		2203	4300	6503	SO:0001583	missense	23063				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding	g.chr10:88277723C>A	AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"""friend of EBNA2"""	610754	"""KIAA0261"""	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.104G>T	10.37:g.88277723C>A	ENSP00000298767:p.Trp35Leu						p.W35L	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN			2	576	-			35			Mediates interaction with the cohesin complex.		A7E2B5|Q5VSK5|Q8IX10|Q92549	Missense_Mutation	SNP	ENST00000298767.5	37	c.104G>T	CCDS7375.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.877830	0.91664	.	.	ENSG00000062650	ENST00000342368;ENST00000298767;ENST00000372076	T	0.44482	0.92	5.41	5.41	0.78517	.	0.077721	0.56097	D	0.000028	T	0.63319	0.2501	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;0.998;1.0	D;D;D;D	0.87578	0.998;0.991;0.991;0.997	T	0.63616	-0.6597	10	0.56958	D	0.05	.	19.1959	0.93689	0.0:1.0:0.0:0.0	.	120;35;35;78	Q7Z5K2-3;B2RTX8;Q7Z5K2;Q7Z5K2-2	.;.;WAPL_HUMAN;.	L	120;35;120	ENSP00000298767:W35L	ENSP00000298767:W35L	W	-	2	0	WAPAL	88267703	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.758000	0.68776	2.549000	0.85964	0.650000	0.86243	TGG		0.403	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2	NM_015045		4	77	4	77	---	---	---	---
CPXM2	119587	broad.mit.edu	37	10	125528213	125528213	+	Silent	SNP	C	C	A	rs550032711	byFrequency	TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr10:125528213C>A	ENST00000241305.3	-	9	1282	c.1128G>T	c.(1126-1128)gcG>gcT	p.A376A	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	376					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CGTGGGCCCCCGCGATGTAGT	0.582																																						ENST00000241305.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47						c.(1126-1128)gcG>gcT		carboxypeptidase X (M14 family), member 2							71.0	74.0	73.0					10																	125528213		2203	4300	6503	SO:0001819	synonymous_variant	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125528213C>A	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1128G>T	10.37:g.125528213C>A						CPXM2_ENST00000368854.3_5'UTR	p.A376A	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	9	1282	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	376					B4E3Q2	Silent	SNP	ENST00000241305.3	37	c.1128G>T	CCDS7637.1																																																																																				0.582	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		4	143	4	143	---	---	---	---
FAM53B	9679	broad.mit.edu	37	10	126370648	126370648	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr10:126370648C>A	ENST00000337318.3	-	4	645	c.434G>T	c.(433-435)cGc>cTc	p.R145L	FAM53B_ENST00000392754.3_Missense_Mutation_p.R145L|FAM53B_ENST00000280780.6_Missense_Mutation_p.R145L|RP11-12J10.3_ENST00000494792.1_3'UTR	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	145										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		GCTGTAGCAGCGTCTCTTTTC	0.617																																						ENST00000337318.3																			0				cervix(1)|lung(5)|ovary(2)|pancreas(1)	9						c.(433-435)cGc>cTc		family with sequence similarity 53, member B							28.0	28.0	28.0					10																	126370648		2203	4300	6503	SO:0001583	missense	9679							g.chr10:126370648C>A	D50930	CCDS7641.1	10q26.13	2004-11-24	2004-11-24	2004-11-24	ENSG00000189319	ENSG00000189319			28968	protein-coding gene	gene with protein product			"""KIAA0140"""	KIAA0140		8590280	Standard	NM_014661		Approved	bA12J10.2	uc001lhv.1	Q14153	OTTHUMG00000019215	ENST00000337318.3:c.434G>T	10.37:g.126370648C>A	ENSP00000338532:p.Arg145Leu					FAM53B_ENST00000392754.3_Missense_Mutation_p.R145L|RP11-12J10.3_ENST00000494792.1_3'UTR|FAM53B_ENST00000280780.6_Missense_Mutation_p.R145L	p.R145L	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)	4	645	-		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)	145					D3DRF1|Q5VUW1|Q5VUW2|Q8N5S6	Missense_Mutation	SNP	ENST00000337318.3	37	c.434G>T	CCDS7641.1	.	.	.	.	.	.	.	.	.	.	C	32	5.153390	0.94645	.	.	ENSG00000189319	ENST00000337318;ENST00000392754;ENST00000280780	T;T;T	0.54279	0.58;0.58;0.58	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.68449	0.3002	M	0.75615	2.305	0.80722	D	1	D;D;D	0.62365	0.991;0.991;0.991	P;P;P	0.55615	0.78;0.78;0.78	T	0.72830	-0.4174	10	0.72032	D	0.01	-7.2971	18.8174	0.92081	0.0:1.0:0.0:0.0	.	145;145;145	Q14153-2;Q14153;B3KMZ2	.;FA53B_HUMAN;.	L	145	ENSP00000338532:R145L;ENSP00000376509:R145L;ENSP00000280780:R145L	ENSP00000280780:R145L	R	-	2	0	FAM53B	126360638	1.000000	0.71417	0.967000	0.41034	0.975000	0.68041	7.598000	0.82745	2.746000	0.94184	0.655000	0.94253	CGC		0.617	FAM53B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050879.1	NM_014661		3	43	3	43	---	---	---	---
NLRP14	338323	broad.mit.edu	37	11	7064143	7064143	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr11:7064143G>T	ENST00000299481.4	+	4	1232	c.886G>T	c.(886-888)Gtg>Ttg	p.V296L		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	296	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GCTGAGGAAAGTGATGCTCCC	0.448																																						ENST00000299481.4																			0				breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(886-888)Gtg>Ttg		NLR family, pyrin domain containing 14							78.0	74.0	75.0					11																	7064143		2201	4296	6497	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7064143G>T	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.886G>T	11.37:g.7064143G>T	ENSP00000299481:p.Val296Leu						p.V296L	NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	4	1232	+			296			NACHT.		Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.886G>T	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.184162	0.57800	.	.	ENSG00000158077	ENST00000299481	T	0.78364	-1.17	4.57	2.68	0.31781	NACHT nucleoside triphosphatase (1);	0.549745	0.15256	N	0.272073	T	0.68476	0.3005	L	0.40543	1.245	0.29362	N	0.864603	B	0.29481	0.245	B	0.35182	0.197	T	0.63563	-0.6609	10	0.41790	T	0.15	.	6.3708	0.21481	0.2181:0.0:0.7819:0.0	.	296	Q86W24	NAL14_HUMAN	L	296	ENSP00000299481:V296L	ENSP00000299481:V296L	V	+	1	0	NLRP14	7020719	0.664000	0.27457	0.999000	0.59377	0.978000	0.69477	3.058000	0.49939	1.286000	0.44565	0.655000	0.94253	GTG		0.448	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		13	53	13	53	---	---	---	---
CD3G	917	broad.mit.edu	37	11	118223127	118223127	+	Silent	SNP	G	G	A			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr11:118223127G>A	ENST00000532917.1	+	6	560	c.492G>A	c.(490-492)aaG>aaA	p.K164K	CD3G_ENST00000392883.2_Silent_p.K60K|CD3G_ENST00000532903.1_3'UTR	NM_000073.2	NP_000064.1	P09693	CD3G_HUMAN	CD3g molecule, gamma (CD3-TCR complex)	164	ITAM. {ECO:0000255|PROSITE- ProRule:PRU00379}.				cell surface receptor signaling pathway (GO:0007166)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|protein transport (GO:0015031)|regulation of immune response (GO:0050776)|regulation of lymphocyte apoptotic process (GO:0070228)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	alpha-beta T cell receptor complex (GO:0042105)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|receptor signaling complex scaffold activity (GO:0030159)|T cell receptor binding (GO:0042608)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|kidney(1)|large_intestine(2)|skin(1)	6	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	Muromonab(DB00075)	AGCCCCTCAAGGATCGAGAAG	0.393																																						ENST00000532917.1																			0				breast(2)|kidney(1)|large_intestine(2)|skin(1)	6						c.(490-492)aaG>aaA		CD3g molecule, gamma (CD3-TCR complex)							157.0	164.0	162.0					11																	118223127		2200	4296	6496	SO:0001819	synonymous_variant	917				establishment or maintenance of cell polarity|protein complex assembly|protein transport|regulation of apoptosis|T cell activation|T cell costimulation|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	protein heterodimerization activity|receptor signaling complex scaffold activity|T cell receptor binding|transmembrane receptor activity	g.chr11:118223127G>A	X60491	CCDS8395.1	11q23	2014-09-17	2006-03-28		ENSG00000160654	ENSG00000160654		"""CD molecules"""	1675	protein-coding gene	gene with protein product		186740	"""CD3g antigen, gamma polypeptide (TiT3 complex)"""				Standard	NM_000073		Approved		uc001psu.2	P09693	OTTHUMG00000166971	ENST00000532917.1:c.492G>A	11.37:g.118223127G>A						CD3G_ENST00000392883.2_Silent_p.K60K|CD3G_ENST00000532903.1_3'UTR	p.K164K	NM_000073.2	NP_000064.1	P09693	CD3G_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	6	560	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	164			ITAM.		Q2HIZ6	Silent	SNP	ENST00000532917.1	37	c.492G>A	CCDS8395.1																																																																																				0.393	CD3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392135.1	NM_000073		74	118	74	118	---	---	---	---
SLC38A4	55089	broad.mit.edu	37	12	47163194	47163194	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr12:47163194G>C	ENST00000447411.1	-	14	1523	c.1317C>G	c.(1315-1317)atC>atG	p.I439M	SLC38A4_ENST00000266579.4_Missense_Mutation_p.I439M	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	439					amino acid transport (GO:0006865)|ion transport (GO:0006811)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					ATAACAGTGTGATCACTGATG	0.363																																						ENST00000447411.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21						c.(1315-1317)atC>atG		solute carrier family 38, member 4							136.0	127.0	130.0					12																	47163194		2203	4300	6503	SO:0001583	missense	55089				cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr12:47163194G>C	AF193836	CCDS8750.1	12q13	2013-05-22				ENSG00000139209		"""Solute carriers"""	14679	protein-coding gene	gene with protein product		608065				11414754	Standard	NM_018018		Approved	PAAT, NAT3, ATA3	uc001rpj.2	Q969I6		ENST00000447411.1:c.1317C>G	12.37:g.47163194G>C	ENSP00000389843:p.Ile439Met					SLC38A4_ENST00000266579.4_Missense_Mutation_p.I439M	p.I439M	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN			14	1523	-	Lung SC(27;0.192)|Renal(347;0.236)		439					A8K553	Missense_Mutation	SNP	ENST00000447411.1	37	c.1317C>G	CCDS8750.1	.	.	.	.	.	.	.	.	.	.	G	7.483	0.649129	0.14516	.	.	ENSG00000139209	ENST00000447411;ENST00000266579	T;T	0.02216	4.39;4.39	5.66	2.67	0.31697	.	0.575223	0.19314	N	0.117305	T	0.04092	0.0114	L	0.38175	1.15	0.26662	N	0.971895	B	0.29955	0.263	P	0.49361	0.608	T	0.41413	-0.9510	10	0.34782	T	0.22	-0.1807	2.5893	0.04838	0.1491:0.1256:0.467:0.2583	.	439	Q969I6	S38A4_HUMAN	M	439	ENSP00000389843:I439M;ENSP00000266579:I439M	ENSP00000266579:I439M	I	-	3	3	SLC38A4	45449461	0.045000	0.20229	0.502000	0.27614	0.862000	0.49288	0.212000	0.17497	0.730000	0.32425	-0.448000	0.05591	ATC		0.363	SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404574.1			12	60	12	60	---	---	---	---
CFL2	1073	broad.mit.edu	37	14	35182678	35182678	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr14:35182678C>A	ENST00000341223.3	-	2	244	c.93G>T	c.(91-93)aaG>aaT	p.K31N	CFL2_ENST00000298159.6_Missense_Mutation_p.K31N|CFL2_ENST00000555765.1_Missense_Mutation_p.K14N|CFL2_ENST00000556161.1_Missense_Mutation_p.K14N	NM_001243645.1|NM_021914.7	NP_001230574.1|NP_068733.1	Q9Y281	COF2_HUMAN	cofilin 2 (muscle)	31	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin filament depolymerization (GO:0030042)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of actin filament depolymerization (GO:0030836)|regulation of dendritic spine morphogenesis (GO:0061001)|sarcomere organization (GO:0045214)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|nucleus (GO:0005634)				breast(3)|endometrium(2)|lung(3)	8	Breast(36;0.0361)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814)	GBM - Glioblastoma multiforme(112;0.0424)		CTTTCTTTCTCTTTTTGATCT	0.353																																						ENST00000341223.3																			0				breast(3)|endometrium(2)|lung(3)	8						c.(91-93)aaG>aaT		cofilin 2 (muscle)							93.0	88.0	90.0					14																	35182678		2203	4300	6503	SO:0001583	missense	1073					cytoplasm|cytoskeleton|nuclear matrix	actin binding	g.chr14:35182678C>A	AF087867	CCDS9649.1, CCDS9650.1, CCDS58311.1	14q13.2	2014-09-17			ENSG00000165410	ENSG00000165410			1875	protein-coding gene	gene with protein product	"""nemaline myopathy type 7"""	601443				8800436	Standard	NM_138638		Approved	NEM7	uc001wsh.3	Q9Y281	OTTHUMG00000029536	ENST00000341223.3:c.93G>T	14.37:g.35182678C>A	ENSP00000340635:p.Lys31Asn					CFL2_ENST00000555765.1_Missense_Mutation_p.K14N|CFL2_ENST00000298159.6_Missense_Mutation_p.K31N|CFL2_ENST00000556161.1_Missense_Mutation_p.K14N	p.K31N	NM_001243645.1|NM_021914.7	NP_001230574.1|NP_068733.1	Q9Y281	COF2_HUMAN	LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814)	GBM - Glioblastoma multiforme(112;0.0424)	2	244	-	Breast(36;0.0361)|Hepatocellular(127;0.158)		31			ADF-H.		G3V5P4	Missense_Mutation	SNP	ENST00000341223.3	37	c.93G>T	CCDS9650.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.684502	0.47991	.	.	ENSG00000165410	ENST00000341223;ENST00000298159;ENST00000555765;ENST00000556161	D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77	6.17	3.87	0.44632	Actin-binding, cofilin/tropomyosin type (3);	0.000000	0.85682	D	0.000000	D	0.88858	0.6551	H	0.94462	3.54	0.80722	D	1	P	0.34724	0.465	B	0.43331	0.416	D	0.87330	0.2324	10	0.87932	D	0	-10.0003	8.3245	0.32149	0.0:0.2141:0.0:0.7859	.	31	Q9Y281	COF2_HUMAN	N	31;31;14;14	ENSP00000340635:K31N;ENSP00000298159:K31N;ENSP00000452451:K14N;ENSP00000452188:K14N	ENSP00000298159:K31N	K	-	3	2	CFL2	34252429	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.154000	0.50693	0.585000	0.29608	-0.302000	0.09304	AAG		0.353	CFL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276639.1	NM_138638		4	57	4	57	---	---	---	---
RTL1	388015	broad.mit.edu	37	14	101349274	101349274	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr14:101349274G>A	ENST00000534062.1	-	1	1910	c.1852C>T	c.(1852-1854)Cct>Tct	p.P618S	MIR431_ENST00000385266.1_RNA|MIR433_ENST00000384837.1_RNA|MIR136_ENST00000385207.1_RNA|MIR432_ENST00000606207.1_RNA|MIR127_ENST00000384876.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	618					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						GCACCCACAGGTTCCCAAGGC	0.542																																						ENST00000534062.1																			0				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						c.(1852-1854)Cct>Tct		retrotransposon-like 1							42.0	37.0	39.0					14																	101349274		1568	3582	5150	SO:0001583	missense	388015							g.chr14:101349274G>A		CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.1852C>T	14.37:g.101349274G>A	ENSP00000435342:p.Pro618Ser						p.P618S	NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN			1	1910	-			618					E9PKS8	Missense_Mutation	SNP	ENST00000534062.1	37	c.1852C>T	CCDS53910.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.641952	0.47153	.	.	ENSG00000254656	ENST00000534062	T	0.44881	0.91	3.54	3.54	0.40534	.	0.000000	0.32093	N	0.006595	T	0.45597	0.1350	L	0.50333	1.59	0.09310	N	1	P	0.51791	0.948	P	0.52598	0.703	T	0.32693	-0.9897	10	0.66056	D	0.02	.	9.1845	0.37163	0.0:0.2227:0.7773:0.0	.	618	E9PKS8	.	S	618	ENSP00000435342:P618S	ENSP00000435342:P618S	P	-	1	0	RTL1	100419027	0.997000	0.39634	0.158000	0.22627	0.874000	0.50279	4.216000	0.58540	2.283000	0.76528	0.467000	0.42956	CCT		0.542	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1	NM_001134888		6	40	6	40	---	---	---	---
TNFRSF13B	23495	broad.mit.edu	37	17	16843703	16843703	+	Missense_Mutation	SNP	C	C	A	rs150101848	byFrequency	TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr17:16843703C>A	ENST00000261652.2	-	4	580	c.568G>T	c.(568-570)Ggg>Tgg	p.G190W	TNFRSF13B_ENST00000437538.2_Missense_Mutation_p.G144W|TNFRSF13B_ENST00000581616.2_5'Flank|TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.G144W|TNFRSF13B_ENST00000579315.1_Intron	NM_012452.2	NP_036584.1	O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	190					B cell homeostasis (GO:0001782)|cell surface receptor signaling pathway (GO:0007166)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of B cell proliferation (GO:0030889)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						CAGGGATCCCCCCTCTTCTTG	0.647									IgA Deficiency, Selective																													ENST00000437538.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						c.(430-432)Ggg>Tgg		tumor necrosis factor receptor superfamily, member 13B							79.0	80.0	80.0					17																	16843703		2203	4300	6503	SO:0001583	missense	23495	IgA Deficiency, Selective	Familial Cancer Database	IGAD1, IGAD2	cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr17:16843703C>A	AF023614	CCDS11181.1	17p11.2	2014-09-17			ENSG00000240505	ENSG00000240505		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	18153	protein-coding gene	gene with protein product		604907				9311921	Standard	NM_012452		Approved	TACI, CD267	uc002gqs.1	O14836	OTTHUMG00000059262	ENST00000261652.2:c.568G>T	17.37:g.16843703C>A	ENSP00000261652:p.Gly190Trp					TNFRSF13B_ENST00000579315.1_Intron|TNFRSF13B_ENST00000261652.2_Missense_Mutation_p.G190W|TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.G144W	p.G144W			O14836	TR13B_HUMAN			3	438	-			190					B2R8B0|B7Z6V8|Q32LX4|Q7Z6F5	Missense_Mutation	SNP	ENST00000261652.2	37	c.430G>T	CCDS11181.1	.	.	.	.	.	.	.	.	.	.	c	0.101	-1.152368	0.01700	.	.	ENSG00000240505	ENST00000437538;ENST00000261652	D;D	0.98345	-4.88;-4.82	3.43	1.24	0.21308	.	0.118551	0.37393	N	0.002104	D	0.96116	0.8734	M	0.72894	2.215	0.27498	N	0.952074	B;B	0.33748	0.385;0.423	B;B	0.32583	0.148;0.124	D	0.92330	0.5873	10	0.72032	D	0.01	-11.9938	6.1086	0.20087	0.216:0.5743:0.2097:0.0	.	144;190	O14836-2;O14836	.;TR13B_HUMAN	W	144;190	ENSP00000413453:G144W;ENSP00000261652:G190W	ENSP00000261652:G190W	G	-	1	0	TNFRSF13B	16784428	0.647000	0.27304	0.084000	0.20598	0.018000	0.09664	1.750000	0.38329	0.076000	0.16826	-1.116000	0.02052	GGG		0.647	TNFRSF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131474.2			4	97	4	97	---	---	---	---
TUBG1	7283	broad.mit.edu	37	17	40766928	40766928	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr17:40766928C>A	ENST00000251413.3	+	11	1287	c.1225C>A	c.(1225-1227)Cgc>Agc	p.R409S		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	409					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic spindle organization (GO:0000212)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	apical part of cell (GO:0045177)|cell leading edge (GO:0031252)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)|polar microtubule (GO:0005827)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Vinblastine(DB00570)	GGAGCAGTTCCGCAAGGAGGA	0.537																																					Colon(20;114 698 11420 22864)	ENST00000251413.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						c.(1225-1227)Cgc>Agc		tubulin, gamma 1							138.0	136.0	137.0					17																	40766928		2203	4300	6503	SO:0001583	missense	7283				G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton	g.chr17:40766928C>A	BC000619	CCDS11433.1	17q21.31	2010-03-15	2000-01-20		ENSG00000131462	ENSG00000131462		"""Tubulins"""	12417	protein-coding gene	gene with protein product		191135	"""tubulin, gamma polypeptide"""	TUBG		1904010	Standard	NM_001070		Approved	TUBGCP1	uc002ian.3	P23258		ENST00000251413.3:c.1225C>A	17.37:g.40766928C>A	ENSP00000251413:p.Arg409Ser						p.R409S	NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.129)	11	1287	+		Breast(137;0.00116)	409					Q53X79|Q9BW59	Missense_Mutation	SNP	ENST00000251413.3	37	c.1225C>A	CCDS11433.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160748	0.57368	.	.	ENSG00000131462	ENST00000251413	D	0.83914	-1.78	5.02	5.02	0.67125	Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.81004	0.4733	M	0.73753	2.245	0.80722	D	1	P	0.46706	0.883	B	0.32289	0.143	D	0.85786	0.1364	10	0.87932	D	0	-13.5354	18.361	0.90374	0.0:1.0:0.0:0.0	.	409	P23258	TBG1_HUMAN	S	409	ENSP00000251413:R409S	ENSP00000251413:R409S	R	+	1	0	TUBG1	38020454	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.927000	0.70080	2.339000	0.79563	0.563000	0.77884	CGC		0.537	TUBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450548.1	NM_001070		5	157	5	157	---	---	---	---
CSHL1	1444	broad.mit.edu	37	17	61988132	61988132	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr17:61988132G>T	ENST00000309894.5	-	2	162	c.163C>A	c.(163-165)Cag>Aag	p.Q55K	CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000450719.3_Intron|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000392824.4_Missense_Mutation_p.Q55K|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000438387.2_Intron	NM_022579.1	NP_072101.1	Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	55						extracellular region (GO:0005576)	hormone activity (GO:0005179)|metal ion binding (GO:0046872)			endometrium(3)|lung(6)	9						ATAAACTCCTGGTAGGTGTCA	0.557																																						ENST00000392824.4																			0				endometrium(3)|lung(6)	9						c.(163-165)Cag>Aag		chorionic somatomammotropin hormone-like 1							108.0	116.0	113.0					17																	61988132		2203	4300	6503	SO:0001583	missense	1444					extracellular region	hormone activity|metal ion binding	g.chr17:61988132G>T	BC029365	CCDS11652.1, CCDS42370.1, CCDS45759.1	17q22-q24	2012-10-02							2442	protein-coding gene	gene with protein product	"""chorionic somatomammotropin CS-5"""	603515		CSHP1		8083227	Standard	NM_001318		Approved	hCS-L, CSL, CS-5, MGC149868	uc002jda.1	Q14406		ENST00000309894.5:c.163C>A	17.37:g.61988132G>T	ENSP00000309524:p.Gln55Lys					CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000309894.5_Missense_Mutation_p.Q55K|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000450719.3_Intron|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000558099.1_5'UTR	p.Q55K			Q14406	CSHL_HUMAN			2	224	-			55					D3DU26|D3DU27|Q0VDB2	Missense_Mutation	SNP	ENST00000309894.5	37	c.163C>A	CCDS11652.1	.	.	.	.	.	.	.	.	.	.	g	9.469	1.095247	0.20471	.	.	ENSG00000204414	ENST00000309894;ENST00000259003;ENST00000450719;ENST00000392824	D;D	0.87966	-2.32;-2.32	2.84	1.73	0.24493	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.365132	0.30419	N	0.009673	D	0.86260	0.5890	L	0.52266	1.64	0.20638	N	0.999879	P;P;P	0.48911	0.843;0.813;0.917	D;P;P	0.64506	0.926;0.51;0.615	T	0.74965	-0.3484	10	0.05721	T	0.95	.	5.8624	0.18757	0.0:0.0:0.2991:0.7009	.	55;55;55	B7Z6E9;Q14406;Q14406-2	.;CSHL_HUMAN;.	K	55	ENSP00000309524:Q55K;ENSP00000376569:Q55K	ENSP00000259003:Q55K	Q	-	1	0	GH1	59341864	1.000000	0.71417	0.996000	0.52242	0.030000	0.12068	1.603000	0.36794	0.317000	0.23160	0.305000	0.20034	CAG		0.557	CSHL1-009	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444557.1	NM_022579		6	267	6	267	---	---	---	---
SERPINB7	8710	broad.mit.edu	37	18	61471819	61471819	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr18:61471819A>T	ENST00000398019.2	+	8	1418	c.1093A>T	c.(1093-1095)Atc>Ttc	p.I365F	SERPINB7_ENST00000540675.1_Missense_Mutation_p.I348F|SERPINB7_ENST00000546027.1_Missense_Mutation_p.I365F|SERPINB7_ENST00000336429.2_Missense_Mutation_p.I365F	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	365					negative regulation of endopeptidase activity (GO:0010951)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				CCTATTTGTTATCAGGAAGGA	0.453																																						ENST00000398019.2																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27						c.(1093-1095)Atc>Ttc		serpin peptidase inhibitor, clade B (ovalbumin), member 7							79.0	73.0	75.0					18																	61471819		2203	4300	6503	SO:0001583	missense	8710				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61471819A>T	AF027866	CCDS11988.1, CCDS58633.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166396	ENSG00000166396		"""Serine (or cysteine) peptidase inhibitors"""	13902	protein-coding gene	gene with protein product		603357	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7"""			24172014	Standard	NM_003784		Approved	MEGSIN	uc002ljl.4	O75635	OTTHUMG00000060591	ENST00000398019.2:c.1093A>T	18.37:g.61471819A>T	ENSP00000381101:p.Ile365Phe					SERPINB7_ENST00000540675.1_Missense_Mutation_p.I348F|SERPINB7_ENST00000546027.1_Missense_Mutation_p.I365F|SERPINB7_ENST00000336429.2_Missense_Mutation_p.I365F	p.I365F	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN			8	1418	+		Esophageal squamous(42;0.129)	365					B4DUW8|F5GZC0|Q1ED45|Q3KPG4	Missense_Mutation	SNP	ENST00000398019.2	37	c.1093A>T	CCDS11988.1	.	.	.	.	.	.	.	.	.	.	A	17.35	3.366358	0.61513	.	.	ENSG00000166396	ENST00000336429;ENST00000398019;ENST00000540675;ENST00000546027	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	6.01	4.86	0.63082	Serpin domain (3);Protease inhibitor I4, serpin, conserved site (1);	0.000000	0.64402	D	0.000002	T	0.59459	0.2195	H	0.97896	4.1	0.46185	D	0.998913	D;D	0.76494	0.999;0.999	D;D	0.70487	0.948;0.969	T	0.70714	-0.4796	10	0.87932	D	0	.	10.0111	0.41986	0.9243:0.0:0.0757:0.0	.	348;365	F5GZC0;O75635	.;SPB7_HUMAN	F	365;365;348;365	ENSP00000337212:I365F;ENSP00000381101:I365F;ENSP00000444572:I348F;ENSP00000444861:I365F	ENSP00000337212:I365F	I	+	1	0	SERPINB7	59622799	1.000000	0.71417	0.862000	0.33874	0.298000	0.27526	5.730000	0.68546	1.102000	0.41551	0.533000	0.62120	ATC		0.453	SERPINB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134007.1	NM_003784		4	90	4	90	---	---	---	---
MAP1S	55201	broad.mit.edu	37	19	17831813	17831813	+	Silent	SNP	C	C	A	rs7255978		TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr19:17831813C>A	ENST00000324096.4	+	2	338	c.187C>A	c.(187-189)Cga>Aga	p.R63R	MAP1S_ENST00000544059.2_Silent_p.R37R|MAP1S_ENST00000597681.1_Intron	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	63	Necessary for the microtubule-organizing center localization.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CTTTGTGTCCCGACACTCTGC	0.577																																						ENST00000324096.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						c.(187-189)Cga>Aga		microtubule-associated protein 1S							136.0	117.0	124.0					19																	17831813		2203	4300	6503	SO:0001819	synonymous_variant	55201				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	g.chr19:17831813C>A	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"""chromosome 19 open reading frame 5"", ""VCY2 interacting protein 1"", ""BPY2 interacting protein 1"""	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.187C>A	19.37:g.17831813C>A						MAP1S_ENST00000544059.2_Silent_p.R37R|MAP1S_ENST00000597681.1_Intron	p.R63R	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN			2	338	+			63			Necessary for the microtubule-organizing center localization.		B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Silent	SNP	ENST00000324096.4	37	c.187C>A	CCDS32954.1																																																																																				0.577	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174		4	151	4	151	---	---	---	---
GPATCH1	55094	broad.mit.edu	37	19	33602720	33602720	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr19:33602720C>G	ENST00000170564.2	+	12	1990	c.1676C>G	c.(1675-1677)gCa>gGa	p.A559G		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	559					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					CTGCTGTACGCATCTTCCCAT	0.607																																					Pancreas(67;88 1713 4567 18227)	ENST00000170564.2																			0				breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40						c.(1675-1677)gCa>gGa		G patch domain containing 1							132.0	112.0	119.0					19																	33602720		2203	4300	6503	SO:0001583	missense	55094					catalytic step 2 spliceosome	nucleic acid binding	g.chr19:33602720C>G	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"""G patch domain containing"""	24658	protein-coding gene	gene with protein product	"""evolutionarily conserved G patch domain containing"""			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.1676C>G	19.37:g.33602720C>G	ENSP00000170564:p.Ala559Gly						p.A559G	NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN			12	1990	+	Esophageal squamous(110;0.137)		559					Q8IZV6|Q8N3B7|Q9NW94	Missense_Mutation	SNP	ENST00000170564.2	37	c.1676C>G	CCDS12428.1	.	.	.	.	.	.	.	.	.	.	C	7.350	0.622767	0.14193	.	.	ENSG00000076650	ENST00000170564	T	0.32988	1.43	5.73	-7.96	0.01144	.	0.450296	0.24917	N	0.034576	T	0.09291	0.0229	N	0.08118	0	0.09310	N	1	B	0.31769	0.339	B	0.27076	0.076	T	0.08351	-1.0726	10	0.52906	T	0.07	-0.5288	4.8307	0.13439	0.1684:0.4927:0.1616:0.1773	.	559	Q9BRR8	GPTC1_HUMAN	G	559	ENSP00000170564:A559G	ENSP00000170564:A559G	A	+	2	0	GPATCH1	38294560	0.005000	0.15991	0.005000	0.12908	0.160000	0.22226	0.386000	0.20702	-1.536000	0.01738	-1.720000	0.00707	GCA		0.607	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025		3	119	3	119	---	---	---	---
GZF1	64412	broad.mit.edu	37	20	23345560	23345560	+	Silent	SNP	C	C	A			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr20:23345560C>A	ENST00000338121.5	+	2	617	c.540C>A	c.(538-540)tcC>tcA	p.S180S	GZF1_ENST00000377051.2_Silent_p.S180S|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	180					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					TCACGGATTCCTTGGACTACC	0.552																																						ENST00000338121.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24						c.(538-540)tcC>tcA		GDNF-inducible zinc finger protein 1							50.0	51.0	51.0					20																	23345560		2203	4300	6503	SO:0001819	synonymous_variant	64412				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding	g.chr20:23345560C>A	AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	15808	protein-coding gene	gene with protein product		613842	"""zinc finger protein 336"""	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.540C>A	20.37:g.23345560C>A						GZF1_ENST00000542987.1_Intron|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000377051.2_Silent_p.S180S	p.S180S			Q9H116	GZF1_HUMAN			2	617	+	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)		180					A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Silent	SNP	ENST00000338121.5	37	c.540C>A	CCDS13151.1																																																																																				0.552	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	NM_022482		4	74	4	74	---	---	---	---
ALG12	79087	broad.mit.edu	37	22	50297538	50297538	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr22:50297538A>G	ENST00000330817.6	-	10	1688	c.1415T>C	c.(1414-1416)gTc>gCc	p.V472A	CITF22-1A6.3_ENST00000610245.1_lincRNA	NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	472					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosyltransferase activity (GO:0000009)|dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity (GO:0052917)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		CTGCAGGTGGACGTTGAAGGG	0.657																																						ENST00000330817.6																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12						c.(1414-1416)gTc>gCc		ALG12, alpha-1,6-mannosyltransferase							66.0	73.0	71.0					22																	50297538		2203	4300	6503	SO:0001583	missense	79087				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane		g.chr22:50297538A>G	AJ303120	CCDS14081.1	22q13.33	2013-02-26	2013-02-26		ENSG00000182858	ENSG00000182858	2.4.1.260	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19358	protein-coding gene	gene with protein product	"""dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase"", ""dol-P-Man dependent alpha-1,6-mannosyltransferase"""	607144	"""asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)"", ""asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)"""			11983712	Standard	NM_024105		Approved	ECM39	uc003biy.3	Q9BV10	OTTHUMG00000150289	ENST00000330817.6:c.1415T>C	22.37:g.50297538A>G	ENSP00000333813:p.Val472Ala					CITF22-1A6.3_ENST00000610245.1_lincRNA	p.V472A	NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)	10	1688	-		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)						A6PWM1|Q4KMH4|Q8NG10|Q96AA4	Missense_Mutation	SNP	ENST00000330817.6	37	c.1415T>C	CCDS14081.1	.	.	.	.	.	.	.	.	.	.	A	13.34	2.207047	0.39003	.	.	ENSG00000182858	ENST00000330817	D	0.82167	-1.58	5.41	5.41	0.78517	.	0.464926	0.22305	N	0.061804	T	0.81541	0.4844	M	0.63843	1.955	0.09310	N	1	P	0.42078	0.77	B	0.38921	0.285	T	0.78013	-0.2370	10	0.87932	D	0	-10.9644	15.1255	0.72481	1.0:0.0:0.0:0.0	.	472	Q9BV10	ALG12_HUMAN	A	472	ENSP00000333813:V472A	ENSP00000333813:V472A	V	-	2	0	ALG12	48683542	0.962000	0.33011	0.011000	0.14972	0.090000	0.18270	6.080000	0.71299	2.057000	0.61298	0.533000	0.62120	GTC		0.657	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317405.2	NM_024105		3	114	3	114	---	---	---	---
CTPS2	56474	broad.mit.edu	37	X	16720991	16720991	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chrX:16720991G>T	ENST00000443824.1	-	2	778	c.35C>A	c.(34-36)tCa>tAa	p.S12*	CTPS2_ENST00000380241.3_Nonsense_Mutation_p.S12*|CTPS2_ENST00000359276.4_Nonsense_Mutation_p.S12*	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	12					'de novo' CTP biosynthetic process (GO:0044210)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP synthase activity (GO:0003883)			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					ACCAATGCCTGAGATGACCCC	0.438																																						ENST00000443824.1																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(34-36)tCa>tAa		CTP synthase 2							146.0	123.0	131.0					X																	16720991		2203	4300	6503	SO:0001587	stop_gained	56474				glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity	g.chrX:16720991G>T	AF086422	CCDS14175.1	Xp22	2012-05-02	2012-05-02		ENSG00000047230	ENSG00000047230	6.3.4.2		2520	protein-coding gene	gene with protein product		300380	"""CTP synthase II"""			10899599	Standard	NM_001144002		Approved		uc004cxm.3	Q9NRF8	OTTHUMG00000021193	ENST00000443824.1:c.35C>A	X.37:g.16720991G>T	ENSP00000401264:p.Ser12*					CTPS2_ENST00000359276.4_Nonsense_Mutation_p.S12*|CTPS2_ENST00000380241.3_Nonsense_Mutation_p.S12*	p.S12*	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN			2	778	-	Hepatocellular(33;0.0997)		12					B3KWM2|Q9BRI0|Q9H809|Q9H8K9	Nonsense_Mutation	SNP	ENST00000443824.1	37	c.35C>A	CCDS14175.1	.	.	.	.	.	.	.	.	.	.	G	37	6.259937	0.97421	.	.	ENSG00000047230	ENST00000443824;ENST00000380241;ENST00000359276	.	.	.	5.52	5.52	0.82312	.	0.000000	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.3459	18.6316	0.91361	0.0:0.0:1.0:0.0	.	.	.	.	X	12	.	ENSP00000352222:S12X	S	-	2	0	CTPS2	16630912	1.000000	0.71417	0.681000	0.30009	0.020000	0.10135	9.395000	0.97266	2.342000	0.79632	0.525000	0.51046	TCA		0.438	CTPS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055906.1	NM_019857		5	72	5	72	---	---	---	---
ZNF630	57232	broad.mit.edu	37	X	47919356	47919356	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chrX:47919356C>A	ENST00000409324.3	-	5	701	c.475G>T	c.(475-477)Ggg>Tgg	p.G159W	ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000442455.3_Missense_Mutation_p.G145W|ZNF630_ENST00000276054.4_Missense_Mutation_p.G35W	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	159					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						AACATTTTCCCAAATGCACTG	0.388																																						ENST00000276054.4																			0				endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						c.(103-105)Ggg>Tgg		zinc finger protein 630							89.0	71.0	77.0					X																	47919356		2195	4290	6485	SO:0001583	missense	57232				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47919356C>A	AK000580	CCDS35237.2, CCDS75971.1	Xp11.3-p11.1	2013-01-08			ENSG00000221994	ENSG00000221994		"""Zinc fingers, C2H2-type"", ""-"""	28855	protein-coding gene	gene with protein product		300819					Standard	NM_001037735		Approved	BC037316, dJ54B20.2, FLJ20573, MGC138344	uc004div.4	Q2M218	OTTHUMG00000021463	ENST00000409324.3:c.475G>T	X.37:g.47919356C>A	ENSP00000386393:p.Gly159Trp					ZNF630_ENST00000409324.3_Missense_Mutation_p.G159W|ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000442455.3_Missense_Mutation_p.G145W	p.G35W			Q2M218	ZN630_HUMAN			5	1037	-			159			KRAB.		F8WAG4|Q5H8Z5	Missense_Mutation	SNP	ENST00000409324.3	37	c.103G>T	CCDS35237.2	.	.	.	.	.	.	.	.	.	.	.	11.25	1.582784	0.28268	.	.	ENSG00000221994	ENST00000442455;ENST00000276054;ENST00000409324;ENST00000428686;ENST00000421903	T;T;T;T	0.08984	3.03;3.05;3.1;5.01	2.18	2.18	0.27775	.	.	.	.	.	T	0.20292	0.0488	L	0.52126	1.63	0.30537	N	0.766791	D	0.89917	1.0	D	0.81914	0.995	T	0.03413	-1.1039	9	0.87932	D	0	.	9.5854	0.39512	0.0:1.0:0.0:0.0	.	159	Q2M218	ZN630_HUMAN	W	145;35;159;159;35	ENSP00000393163:G145W;ENSP00000354683:G35W;ENSP00000386393:G159W;ENSP00000407278:G159W	ENSP00000354683:G35W	G	-	1	0	ZNF630	47804300	0.640000	0.27243	0.105000	0.21289	0.151000	0.21798	0.721000	0.25911	1.116000	0.41820	0.422000	0.28245	GGG		0.388	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327254.1	NM_001037735		3	29	3	29	---	---	---	---
DACH2	117154	broad.mit.edu	37	X	86068206	86068206	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chrX:86068206G>A	ENST00000373125.4	+	9	1463	c.1463G>A	c.(1462-1464)cGa>cAa	p.R488Q	DACH2_ENST00000508860.1_Missense_Mutation_p.R321Q|DACH2_ENST00000373131.1_Missense_Mutation_p.R475Q|DACH2_ENST00000510272.1_Missense_Mutation_p.R269Q	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	488	DACHbox-C.				development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						AAGGAGCTGCGACTGGAGCTC	0.413																																						ENST00000373131.1																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						c.(1423-1425)cGa>cAa		dachshund homolog 2 (Drosophila)							40.0	38.0	39.0					X																	86068206		2202	4300	6502	SO:0001583	missense	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:86068206G>A	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.1463G>A	X.37:g.86068206G>A	ENSP00000362217:p.Arg488Gln					DACH2_ENST00000373125.4_Missense_Mutation_p.R488Q|DACH2_ENST00000508860.1_Missense_Mutation_p.R321Q|DACH2_ENST00000510272.1_Missense_Mutation_p.R269Q	p.R475Q	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN			8	1587	+			488			DACHbox-C.		B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	c.1424G>A	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	G	10.50	1.366282	0.24684	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297;ENST00000484479	D;D	0.82526	-1.61;-1.62	5.19	2.46	0.29980	.	0.202992	0.31834	N	0.006992	T	0.67720	0.2923	L	0.29908	0.895	0.29444	N	0.858948	B;B;B;B	0.28880	0.029;0.226;0.117;0.054	B;B;B;B	0.17098	0.012;0.017;0.004;0.003	T	0.58515	-0.7623	10	0.34782	T	0.22	.	6.0792	0.19933	0.5556:0.0:0.4444:0.0	.	354;488;475;488	Q1RMF5;A8K3I1;Q96NX9-2;Q96NX9	.;.;.;DACH2_HUMAN	Q	488;475;488;321;269;321;153	ENSP00000362223:R475Q;ENSP00000362217:R488Q	ENSP00000345134:R488Q	R	+	2	0	DACH2	85954862	1.000000	0.71417	0.691000	0.30163	0.010000	0.07245	2.809000	0.47971	0.419000	0.25927	0.513000	0.50165	CGA		0.413	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		9	4	9	4	---	---	---	---
