#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_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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	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_Description	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_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_AccessionNumbers	i_HGNC_CCDS IDs	i_HGNC_CCDSIDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_DateModified	i_HGNC_DateNameChanged	i_HGNC_DateSymbolChanged	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_EnsemblGeneID	i_HGNC_EnsemblIDsuppliedbyEnsembl	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_Genefamilydescription	i_HGNC_HGNC ID	i_HGNC_HGNCID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_LocusGroup	i_HGNC_LocusType	i_HGNC_Name Synonyms	i_HGNC_NameSynonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_OMIMIDsuppliedbyNCBI	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_PreviousNames	i_HGNC_PreviousSymbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_PubmedIDs	i_HGNC_Record Type	i_HGNC_RecordType	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_RefSeqsuppliedbyNCBI	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UCSCIDsuppliedbyUCSC	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_UniProtIDsuppliedbyUniProt	i_HGNC_VEGA IDs	i_HGNC_VEGAIDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	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_Region	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_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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	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_init_n_lod	i_init_t_lod	i_n_alt_count	i_n_alt_count_full	i_n_ref_count	i_n_ref_count_full	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_lod_fstar	i_t_lod_fstar_full	i_t_ref_count_full	i_tumor_f_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	tumor_f
DAPK1	1612	broad.mit.edu	37	9	90321557	90321557	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:90321557G>A	ENST00000408954.3	+	26	3906	c.3571G>A	c.(3571-3573)Ggc>Agc	p.G1191S	DAPK1_ENST00000472284.1_Missense_Mutation_p.G1191S|DAPK1_ENST00000469640.2_Missense_Mutation_p.G1216S|DAPK1_ENST00000358077.5_Missense_Mutation_p.G1191S|DAPK1_ENST00000491893.1_Missense_Mutation_p.G1125S	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	1191					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GGTCAACCACGGCCAGGGCAT	0.642									Chronic Lymphocytic Leukemia, Familial Clustering of																													ENST00000469640.2											0			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						c.(3646-3648)Ggc>Agc	death-associated protein kinase 1						27.0	31.0	29.0					9																	90321557		2161	4252	6413	SO:0001583	missense	1612	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90321557G>A	X76104	X76104	CCDS43842.1	CCDS43842.1	9q34.1	2013-01-10			2013-01-10			ENSG00000196730	ENSG00000196730	ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	"""Ankyrin repeat domain containing"""	2674	2674	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600831	600831						8530096	8530096	Standard	Standard	XM_005251757	XM_005251757		Approved	DAPK	uc004apd.3	uc004apd.3	P53355	P53355	OTTHUMG00000020150	OTTHUMG00000020150	ENST00000408954.3:c.3571G>A	9.37:g.90321557G>A	ENSP00000386135:p.Gly1191Ser		DAPK1_ENST00000472284.1_Missense_Mutation_p.G1191S|DAPK1_ENST00000408954.3_Missense_Mutation_p.G1191S|DAPK1_ENST00000358077.5_Missense_Mutation_p.G1191S|DAPK1_ENST00000491893.1_Missense_Mutation_p.G1125S	p.G1216S			P53355	DAPK1_HUMAN			27	4021	+			1191		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	37	c.3646G>A	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.849831	0.91277	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.69040	-0.33;-0.33;-0.34;-0.33;-0.37	5.51	5.51	0.81932	5.51	5.51	0.81932	.	0.000000	0.52532	D	0.000061	T	0.81307	0.4795	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72625	0.962;0.978;0.962	T	0.82299	-0.0526	10	0.66056	D	0.02	.	19.4155	0.94694	0.0:0.0:1.0:0.0	.	1125;1191;1191	B7ZLE7;P53355-3;P53355	.;.;DAPK1_HUMAN	S	1191;1191;1216;1191;1125	ENSP00000350785:G1191S;ENSP00000417076:G1191S;ENSP00000418885:G1216S;ENSP00000386135:G1191S;ENSP00000419026:G1125S	ENSP00000350785:G1191S	G	+	1	0	0	DAPK1	89511377	89511377	1.000000	0.71417	0.993000	0.49108	0.885000	0.51271	9.869000	0.99810	2.589000	0.87451	0.561000	0.74099	GGC		0.642	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1		42.079985	-7	-7	19	19	NM_004938		13	42.476994	42.476994	7	0.650000	0	0	0	1	0	13	7	0.65
COL4A1	1282	broad.mit.edu	37	13	110862385	110862385	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr13:110862385G>A	ENST00000375820.4	-	10	678	c.557C>T	c.(556-558)cCa>cTa	p.P186L	COL4A1_ENST00000543140.1_Missense_Mutation_p.P186L	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	186	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CAGTCCTGGTGGGCCCTAGAA	0.502																																						ENST00000375820.4											0			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(556-558)cCa>cTa	collagen, type IV, alpha 1						68.0	72.0	70.0					13																	110862385		2203	4300	6503	SO:0001583	missense	1282			angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110862385G>A	J04217	J04217	CCDS9511.1	CCDS9511.1	13q34	2013-09-05			2013-09-05			ENSG00000187498	ENSG00000187498	ENSG00000187498	ENSG00000187498		"""Collagens"""	"""Collagens"""	2202	2202	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			120130	120130						3691802	3691802	Standard	Standard	NM_001845	NM_001845		Approved		uc001vqw.4	uc001vqw.4	P02462	P02462	OTTHUMG00000017342	OTTHUMG00000017342	ENST00000375820.4:c.557C>T	13.37:g.110862385G>A	ENSP00000364979:p.Pro186Leu		COL4A1_ENST00000543140.1_Missense_Mutation_p.P186L	p.P186L	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		10	678	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	186	Triple-helical region.	A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	c.557C>T	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	G	9.727	1.161313	0.21538	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198;ENST00000543140	D;D	0.97731	-4.51;-4.51	5.0	3.27	0.37495	5.0	3.27	0.37495	.	0.762691	0.11760	N	0.532133	D	0.93749	0.8002	L	0.35487	1.065	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.82904	-0.0226	10	0.09084	T	0.74	.	9.6694	0.40004	0.2257:0.0:0.7743:0.0	.	186;186	F5H5K0;P02462	.;CO4A1_HUMAN	L	177;186;186;186	ENSP00000364979:P186L;ENSP00000443348:P186L	ENSP00000364973:P177L	P	-	2	0	0	COL4A1	109660386	109660386	0.000000	0.05858	0.001000	0.08648	0.158000	0.22134	0.770000	0.26618	0.623000	0.30267	0.637000	0.83480	CCA		0.502	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3		58.854238	-10	-10	33	33			18	59.030113	59.030113	13	0.580645	0	0	0	1	0	18	13	0.580645
CDH18	1016	broad.mit.edu	37	5	19721471	19721471	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:19721471C>T	ENST00000507958.1	-	7	1618	c.628G>A	c.(628-630)Gtc>Atc	p.V210I	CDH18_ENST00000506372.1_Missense_Mutation_p.V210I|CDH18_ENST00000502796.1_Missense_Mutation_p.V210I|CDH18_ENST00000274170.4_Missense_Mutation_p.V210I|CDH18_ENST00000382275.1_Missense_Mutation_p.V210I|CDH18_ENST00000511273.1_Missense_Mutation_p.V210I			Q13634	CAD18_HUMAN	cadherin 18, type 2	210	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V210I(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TTAGGGTCGACGGAGAAGTAG	0.448																																						ENST00000507958.1											1	Substitution - Missense(1)	large_intestine(1)	breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138						c.(628-630)Gtc>Atc	cadherin 18, type 2						167.0	147.0	154.0					5																	19721471		2203	4300	6503	SO:0001583	missense	1016			adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19721471C>T	U59325	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			2010-01-26			ENSG00000145526	ENSG00000145526	ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	"""Cadherins / Major cadherins"""	1757	1757	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603019	603019						9030594, 10191097	9030594, 10191097	Standard	Standard	NM_004934	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	uc003jgd.3	Q13634	Q13634	OTTHUMG00000090578	OTTHUMG00000090578	ENST00000507958.1:c.628G>A	5.37:g.19721471C>T	ENSP00000425093:p.Val210Ile		CDH18_ENST00000506372.1_Missense_Mutation_p.V210I|CDH18_ENST00000511273.1_Missense_Mutation_p.V210I|CDH18_ENST00000502796.1_Missense_Mutation_p.V210I|CDH18_ENST00000382275.1_Missense_Mutation_p.V210I|CDH18_ENST00000274170.4_Missense_Mutation_p.V210I	p.V210I			Q13634	CAD18_HUMAN			7	1618	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		210	Cadherin 2.	A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.628G>A	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.885980	0.51908	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1;1.1	5.5	5.5	0.81552	5.5	5.5	0.81552	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.39036	0.1063	N	0.02985	-0.445	0.58432	D	0.999996	B;D	0.89917	0.346;1.0	B;D	0.65443	0.122;0.935	T	0.49688	-0.8913	9	.	.	.	.	17.9639	0.89094	0.0:1.0:0.0:0.0	.	210;210	B4DHG6;Q13634	.;CAD18_HUMAN	I	210;210;210;210;210;210;156;210	ENSP00000371710:V210I;ENSP00000425093:V210I;ENSP00000274170:V210I;ENSP00000424931:V210I;ENSP00000422138:V210I;ENSP00000427383:V156I;ENSP00000425854:V210I	.	V	-	1	0	0	CDH18	19757228	19757228	1.000000	0.71417	0.973000	0.42090	0.311000	0.27955	5.986000	0.70563	2.571000	0.86741	0.650000	0.86243	GTC		0.448	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1		3.584844	-5	-5	117	117	NM_004934		9	19.068723	19.068723	85	0.095745	0	0	0	1	0	9	85	0.095745
ASB11	140456	broad.mit.edu	37	X	15306030	15306030	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:15306030C>T	ENST00000480796.1	-	6	870	c.820G>A	c.(820-822)Gtg>Atg	p.V274M	ASB11_ENST00000537676.1_Missense_Mutation_p.V253M|ASB11_ENST00000380470.3_Missense_Mutation_p.V257M|ASB11_ENST00000344384.4_Missense_Mutation_p.V253M			Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11, E3 ubiquitin protein ligase	274	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					GCCTGCTCCACGCTGCTTTTT	0.522																																						ENST00000537676.1											0			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16						c.(757-759)Gtg>Atg	ankyrin repeat and SOCS box containing 11						99.0	77.0	85.0					X																	15306030		2203	4300	6503	SO:0001583	missense	0			intracellular signal transduction			g.chrX:15306030C>T	AF425642	AF425642	CCDS14164.1, CCDS35209.1, CCDS56596.1	CCDS14164.1, CCDS35209.1, CCDS56596.1	Xp22.31	2014-02-10	2014-02-10		2014-02-10	2014-02-10		ENSG00000165192	ENSG00000165192	ENSG00000165192	ENSG00000165192		"""Ankyrin repeat domain containing"""	"""Ankyrin repeat domain containing"""	17186	17186	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300626	300626	"""ankyrin repeat and SOCS box-containing 11"", ""ankyrin repeat and SOCS box containing 11"""		"""ankyrin repeat and SOCS box-containing 11"", ""ankyrin repeat and SOCS box containing 11"""			24337577	24337577	Standard	Standard	NM_080873	NM_080873		Approved	DKFZp779E2460	uc004cwp.2	uc004cwp.2	Q8WXH4	Q8WXH4	OTTHUMG00000021173	OTTHUMG00000021173	ENST00000480796.1:c.820G>A	X.37:g.15306030C>T	ENSP00000417914:p.Val274Met		ASB11_ENST00000344384.4_Missense_Mutation_p.V253M|ASB11_ENST00000480796.1_Missense_Mutation_p.V274M|ASB11_ENST00000380470.3_Missense_Mutation_p.V257M	p.V253M			Q8WXH4	ASB11_HUMAN			6	829	-	Hepatocellular(33;0.183)		274		E9PEN1|Q3SYC4|Q7Z667	Missense_Mutation	SNP	ENST00000480796.1	37	c.757G>A	CCDS14164.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.606762	0.66558	.	.	ENSG00000165192	ENST00000537676;ENST00000380470;ENST00000344384;ENST00000480796	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	5.44	3.68	0.42216	5.44	3.68	0.42216	SOCS protein, C-terminal (1);Ankyrin repeat-containing domain (4);	0.195013	0.35970	N	0.002868	T	0.73009	0.3532	L	0.43757	1.38	0.42153	D	0.99156	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.981;0.999;0.999	T	0.70171	-0.4945	10	0.42905	T	0.14	-2.7402	10.2954	0.43620	0.0:0.8372:0.0:0.1628	.	257;274;253	Q7Z667;Q8WXH4;E9PEN1	.;ASB11_HUMAN;.	M	253;257;253;274	ENSP00000445465:V253M;ENSP00000369837:V257M;ENSP00000343408:V253M;ENSP00000417914:V274M	ENSP00000343408:V253M	V	-	1	0	0	ASB11	15215951	15215951	0.975000	0.34042	0.294000	0.24946	0.937000	0.57800	2.446000	0.44908	0.506000	0.28125	0.523000	0.50628	GTG		0.522	ASB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055852.2		10.722547	-7	-7	66	66			6	15.651433	15.651433	35	0.146341	0	0	0	1	0	6	35	0.146341
RBPJL	11317	broad.mit.edu	37	20	43936911	43936911	+	Intron	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr20:43936911G>A	ENST00000343694.3	+	2	203				RBPJL_ENST00000372741.3_Intron|MATN4_ENST00000372751.4_De_novo_Start_InFrame|MATN4_ENST00000537548.1_De_novo_Start_InFrame|MATN4_ENST00000353917.5_De_novo_Start_InFrame|MATN4_ENST00000342716.4_De_novo_Start_InFrame|MATN4_ENST00000360607.6_De_novo_Start_InFrame|MATN4_ENST00000372754.1_5'Flank|MATN4_ENST00000372756.1_5'Flank|RBPJL_ENST00000372743.1_Intron	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like						positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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 (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				GCGTGGCAGCGTGCCCTAGGT	0.667																																						ENST00000537548.1											0			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27							matrilin 4						28.0	30.0	29.0					20																	43936911		2203	4299	6502	SO:0001627	intron_variant	8785				extracellular region	protein binding	g.chr20:43936911G>A	AB024964	AJ007581	CCDS13349.1, CCDS63283.1, CCDS63284.1	CCDS13348.1, CCDS46607.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	2008-07-07			ENSG00000124232	ENSG00000124232	ENSG00000124159	ENSG00000124159				13761	6910	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product				603897	"""recombining binding protein suppressor of hairless (Drosophila)-like"""	RBPSUHL				9929984	9827539, 9027493	Standard	Standard	NM_014276	NM_003833		Approved	RBP-L, SUH, SUHL	uc002xns.3	uc002xnn.2	Q9UBG7	O95460	OTTHUMG00000033055	OTTHUMG00000033043	ENST00000343694.3:c.131+20G>A	20.37:g.43936911G>A			MATN4_ENST00000360607.6_De_novo_Start_InFrame|RBPJL_ENST00000343694.3_Intron|MATN4_ENST00000372751.4_De_novo_Start_InFrame|MATN4_ENST00000342716.4_De_novo_Start_InFrame|RBPJL_ENST00000372741.3_Intron|MATN4_ENST00000353917.5_De_novo_Start_InFrame|RBPJL_ENST00000372743.1_Intron				O95460	MATN4_HUMAN			0	114	-		Myeloproliferative disorder(115;0.0122)			O95723|Q5QPU9|Q5QPV0|Q9ULV9	Translation_Start_Site	SNP	ENST00000343694.3	37		CCDS13349.1																																																																																									0.667	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080391.1		43.683183	0	0	37	37	NM_014276		13	44.772243	44.772243	4	0.764706	0	0	0	1	0	13	4	0.764706
CCDC8	83987	broad.mit.edu	37	19	46915352	46915352	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:46915352G>A	ENST00000307522.3	-	1	1489	c.716C>T	c.(715-717)gCg>gTg	p.A239V		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	239					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		GCCCTCTGGCGCCGATGATAC	0.706																																						ENST00000307522.3											0			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(715-717)gCg>gTg	coiled-coil domain containing 8						25.0	30.0	28.0					19																	46915352		2195	4292	6487	SO:0001583	missense	83987				plasma membrane		g.chr19:46915352G>A	BC025243	BC025243	CCDS12685.1	CCDS12685.1	19q13.33	2012-04-17			2012-04-17			ENSG00000169515	ENSG00000169515	ENSG00000169515	ENSG00000169515		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25367	25367	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 20"""	"""protein phosphatase 1, regulatory subunit 20"""	614145	614145						11230166	11230166	Standard	Standard	NM_032040	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	uc002pep.3	Q9H0W5	Q9H0W5	OTTHUMG00000162348	OTTHUMG00000162348	ENST00000307522.3:c.716C>T	19.37:g.46915352G>A	ENSP00000303158:p.Ala239Val			p.A239V	NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)	1	1489	-			239		Q8TB26	Missense_Mutation	SNP	ENST00000307522.3	37	c.716C>T	CCDS12685.1	.	.	.	.	.	.	.	.	.	.	G	6.410	0.443821	0.12164	.	.	ENSG00000169515	ENST00000307522	T	0.11712	2.75	2.68	-4.27	0.03744	2.68	-4.27	0.03744	.	4.673350	0.00447	N	0.000097	T	0.02888	0.0086	N	0.00926	-1.1	0.09310	N	1	B	0.18610	0.029	B	0.06405	0.002	T	0.31696	-0.9934	10	0.21014	T	0.42	4.8503	2.6164	0.04905	0.3635:0.0:0.2813:0.3552	.	239	Q9H0W5	CCDC8_HUMAN	V	239	ENSP00000303158:A239V	ENSP00000303158:A239V	A	-	2	0	0	CCDC8	51607192	51607192	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	-0.355000	0.07671	-0.839000	0.04212	-0.806000	0.03193	GCG		0.706	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1		49.226789	7	7	48	48	NM_032040		18	49.794904	49.794904	29	0.382979	0	0	0	1	0	18	29	0.382979
TRAV40	28641	broad.mit.edu	37	14	22783266	22783266	+	RNA	SNP	G	G	A	rs551258312		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr14:22783266G>A	ENST00000390467.3	+	0	232									T cell receptor alpha variable 40																		CTTCGGAGGCGGAAATATTAA	0.458													g|||	1	0.000199681	0.0	0.0	5008	,	,		16582	0.0		0.0	False		,,,				2504	0.001					ENST00000390467.3											0																	61.0	65.0	63.0					14																	22783266		1807	4067	5874			0						g.chr14:22783266G>A	X73521	X73521			14q11.2	2012-02-07			2012-02-07			ENSG00000211819	ENSG00000211819	ENSG00000211819	ENSG00000211819		"""T cell receptors / TRA locus"""	"""T cell receptors / TRA locus"""	12141	12141	other	T cell receptor gene	other	T cell receptor gene										8412327	8412327	Standard	Standard	NG_001332	NG_001332		Approved	TCRAV31S1, TCRAV40S1					OTTHUMG00000170840	OTTHUMG00000170840		14.37:g.22783266G>A											0	232	+						RNA	SNP	ENST00000390467.3	37																																																																																											0.458	TRAV40-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000410666.1		-1.678593	-4	-4	64	64	NG_001332		5	11.300143	11.300143	64	0.072464	0	0	0	1	0	5	64	0.072464
CNTN2	6900	broad.mit.edu	37	1	205036303	205036303	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:205036303C>T	ENST00000331830.4	+	16	2334	c.2050C>T	c.(2050-2052)Cgg>Tgg	p.R684W		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	684	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CTATGAGTTCCGGGTCATAGC	0.577																																					Melanoma(183;2548 2817 37099 41192)	ENST00000331830.4											0			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54						c.(2050-2052)Cgg>Tgg	contactin 2 (axonal)						89.0	88.0	89.0					1																	205036303		2203	4300	6503	SO:0001583	missense	6900			axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	g.chr1:205036303C>T	X67734	X67734	CCDS1449.1	CCDS1449.1	1q32.1	2013-02-11			2013-02-11			ENSG00000184144	ENSG00000184144	ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	2172	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			190197	190197		TAX, AXT		TAX, AXT		8307567, 8586965	8307567, 8586965	Standard	Standard	NM_005076	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	uc001hbr.3	Q02246	Q02246	OTTHUMG00000037105	OTTHUMG00000037105	ENST00000331830.4:c.2050C>T	1.37:g.205036303C>T	ENSP00000330633:p.Arg684Trp			p.R684W	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		16	2334	+	all_cancers(21;0.144)|Breast(84;0.0437)		684	Fibronectin type-III 1.	P78432|Q5T054	Missense_Mutation	SNP	ENST00000331830.4	37	c.2050C>T	CCDS1449.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265336	0.80358	.	.	ENSG00000184144	ENST00000331830	T	0.60920	0.15	5.51	5.51	0.81932	5.51	5.51	0.81932	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.45361	D	0.000380	D	0.88284	0.6395	H	0.99806	4.795	0.47621	D	0.999478	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93732	0.7042	10	0.87932	D	0	.	19.014	0.92886	0.0:1.0:0.0:0.0	.	684;575	Q02246;Q68DA2	CNTN2_HUMAN;.	W	684	ENSP00000330633:R684W	ENSP00000330633:R684W	R	+	1	2	2	CNTN2	203302926	203302926	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.472000	0.45136	2.590000	0.87494	0.467000	0.42956	CGG		0.577	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3		5.506858	8	8	96	96	NM_005076		6	14.587937	14.587937	52	0.103448	0	0	0	1	0	6	52	0.103448
DUSP11	8446	broad.mit.edu	37	2	74002108	74002108	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:74002108G>A	ENST00000272444.3	-	3	423	c.382C>T	c.(382-384)Cga>Tga	p.R128*	DUSP11_ENST00000377706.4_Nonsense_Mutation_p.R81*|DUSP11_ENST00000443070.1_Nonsense_Mutation_p.R128*|DUSP11_ENST00000480948.1_5'UTR	NM_003584.2	NP_003575.2	O75319	DUS11_HUMAN	dual specificity phosphatase 11 (RNA/RNP complex 1-interacting)	81	Tyrosine-protein phosphatase.				peptidyl-tyrosine dephosphorylation (GO:0035335)|polynucleotide 5' dephosphorylation (GO:0098507)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|phosphatase activity (GO:0016791)|poly(A) RNA binding (GO:0044822)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA binding (GO:0003723)	p.R81*(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						TTTTGTTCTCGGATTTTGTTA	0.338																																						ENST00000443070.1											1	Substitution - Nonsense(1)	endometrium(1)	breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						c.(382-384)Cga>Tga	dual specificity phosphatase 11 (RNA/RNP complex 1-interacting)						92.0	95.0	94.0					2																	74002108		2203	4300	6503	SO:0001587	stop_gained	8446			RNA processing	nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|RNA binding	g.chr2:74002108G>A	AF023917	AF023917	CCDS1928.2	CCDS1928.2	2p13.1	2011-06-09			2011-06-09			ENSG00000144048	ENSG00000144048	ENSG00000144048	ENSG00000144048		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	3066	3066	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603092	603092						9685386	9685386	Standard	Standard	NM_003584	NM_003584		Approved	PIR1	uc002sjp.3	uc002sjp.3	O75319	O75319	OTTHUMG00000129816	OTTHUMG00000129816	ENST00000272444.3:c.382C>T	2.37:g.74002108G>A	ENSP00000272444:p.Arg128*		DUSP11_ENST00000272444.3_Nonsense_Mutation_p.R128*|DUSP11_ENST00000480948.1_5'UTR|DUSP11_ENST00000377706.4_Nonsense_Mutation_p.R81*	p.R128*			O75319	DUS11_HUMAN			3	387	-			81	Tyrosine-protein phosphatase.	B2RCT8|Q6AI47|Q9BWE3	Nonsense_Mutation	SNP	ENST00000272444.3	37	c.382C>T	CCDS1928.2	.	.	.	.	.	.	.	.	.	.	G	12.05	1.822595	0.32237	.	.	ENSG00000144048	ENST00000272444;ENST00000443070;ENST00000377706;ENST00000452812	.	.	.	4.71	0.909	0.19332	4.71	0.909	0.19332	.	0.904261	0.09730	N	0.763308	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.1216	3.2235	0.06724	0.1599:0.136:0.5637:0.1404	.	.	.	.	X	128;128;81;79	.	ENSP00000272444:R128X	R	-	1	2	2	DUSP11	73855616	73855616	0.998000	0.40836	0.109000	0.21407	0.127000	0.20565	1.602000	0.36783	0.060000	0.16281	-0.137000	0.14449	CGA		0.338	DUSP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252047.3		50.126274	-4	-4	53	53			15	50.133778	50.133778	14	0.517241	0	0	0	1	0	15	14	0.517241
CNGA2	1260	broad.mit.edu	37	X	150908176	150908176	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:150908176G>A	ENST00000329903.4	+	3	379	c.346G>A	c.(346-348)Gac>Aac	p.D116N		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	116					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TGGCAAAGGCGACAAGGATGG	0.532																																						ENST00000329903.4											0			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49						c.(346-348)Gac>Aac	cyclic nucleotide gated channel alpha 2						129.0	97.0	108.0					X																	150908176		2203	4300	6503	SO:0001583	missense	1260			response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chrX:150908176G>A	S76067	S76067	CCDS14701.1	CCDS14701.1	Xq27	2011-07-05			2011-07-05			ENSG00000183862	ENSG00000183862	ENSG00000183862	ENSG00000183862		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2149	2149	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300338	300338		CNCA1, CNCA		CNCA1, CNCA		7532814, 16382102	7532814, 16382102	Standard	Standard	NM_005140	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	uc004fey.1	Q16280	Q16280	OTTHUMG00000024173	OTTHUMG00000024173	ENST00000329903.4:c.346G>A	X.37:g.150908176G>A	ENSP00000328478:p.Asp116Asn			p.D116N	NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN			3	379	+	Acute lymphoblastic leukemia(192;6.56e-05)		116		A0AVD0	Missense_Mutation	SNP	ENST00000329903.4	37	c.346G>A	CCDS14701.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.482817	0.26598	.	.	ENSG00000183862	ENST00000329903	D	0.97279	-4.32	5.58	-0.754	0.11065	5.58	-0.754	0.11065	.	0.286206	0.37623	N	0.002004	D	0.89483	0.6728	L	0.29908	0.895	0.25493	N	0.987627	B	0.29766	0.256	B	0.18871	0.023	T	0.80948	-0.1154	10	0.07644	T	0.81	.	5.3436	0.15996	0.309:0.248:0.443:0.0	.	116	Q16280	CNGA2_HUMAN	N	116	ENSP00000328478:D116N	ENSP00000328478:D116N	D	+	1	0	0	CNGA2	150658832	150658832	1.000000	0.71417	0.973000	0.42090	0.445000	0.32107	1.703000	0.37846	-0.301000	0.08882	0.529000	0.55759	GAC		0.532	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1		31.175923	2	2	87	87	NM_005140		12	34.080393	34.080393	37	0.244898	0	0	0	1	0	12	37	0.244898
GRIK4	2900	broad.mit.edu	37	11	120827588	120827588	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:120827588G>A	ENST00000527524.2	+	16	2087	c.1800G>A	c.(1798-1800)ccG>ccA	p.P600P	GRIK4_ENST00000438375.2_Silent_p.P600P	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	600					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		TCTGGTTTCCGGTCGGGGGGT	0.642																																						ENST00000527524.2											0			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69						c.(1798-1800)ccG>ccA	glutamate receptor, ionotropic, kainate 4						66.0	55.0	59.0					11																	120827588		2203	4299	6502	SO:0001819	synonymous_variant	2900			glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr11:120827588G>A	S67803	S67803	CCDS8433.1	CCDS8433.1	11q23.3	2012-08-29			2012-08-29			ENSG00000149403	ENSG00000149403	ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	4582	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600282	600282		GRIK		GRIK				Standard	Standard	NM_001282470	NM_001282470		Approved	GluK4, KA1	uc009zax.1	uc009zax.1	Q16099	Q16099	OTTHUMG00000048255	OTTHUMG00000048255	ENST00000527524.2:c.1800G>A	11.37:g.120827588G>A			GRIK4_ENST00000438375.2_Silent_p.P600P	p.P600P	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	16	2087	+		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)	600		A8K9L1	Silent	SNP	ENST00000527524.2	37	c.1800G>A	CCDS8433.1																																																																																									0.642	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4		2.165198	-4	-4	51	51	NM_014619		4	9.848179	9.848179	41	0.088889	0	0	0	1	0	4	41	0.088889
ADAD2	161931	broad.mit.edu	37	16	84229876	84229876	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:84229876G>A	ENST00000315906.5	+	8	1478	c.1426G>A	c.(1426-1428)Gaa>Aaa	p.E476K	ADAD2_ENST00000268624.3_Missense_Mutation_p.E558K|RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000561900.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	476	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						GGCCCCTTCCGAACCCACCCC	0.697																																						ENST00000268624.3											0			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						c.(1672-1674)Gaa>Aaa	adenosine deaminase domain containing 2						38.0	46.0	43.0					16																	84229876		2197	4297	6494	SO:0001583	missense	161931			RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding	g.chr16:84229876G>A	AF447586	AF447586	CCDS10944.1, CCDS45536.1	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			2007-05-31			ENSG00000140955	ENSG00000140955	ENSG00000140955	ENSG00000140955				30714	30714	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_139174	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	uc002fhr.2	Q8NCV1	Q8NCV1	OTTHUMG00000137637	OTTHUMG00000137637	ENST00000315906.5:c.1426G>A	16.37:g.84229876G>A	ENSP00000325153:p.Glu476Lys		ADAD2_ENST00000315906.5_Missense_Mutation_p.E476K|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA	p.E558K	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN			9	1765	+			476	A to I editase.	B2RCL6|Q8NA94	Missense_Mutation	SNP	ENST00000315906.5	37	c.1672G>A	CCDS45536.1	.	.	.	.	.	.	.	.	.	.	G	8.301	0.819980	0.16678	.	.	ENSG00000140955	ENST00000315906;ENST00000268624	D;D	0.93133	-3.17;-3.17	5.15	-1.94	0.07571	5.15	-1.94	0.07571	Adenosine deaminase/editase (2);	1.169020	0.06144	N	0.672863	T	0.78207	0.4247	N	0.01464	-0.85	0.09310	N	1	B;B	0.26195	0.142;0.144	B;B	0.14578	0.011;0.009	T	0.68228	-0.5464	10	0.10902	T	0.67	-11.2126	9.1316	0.36848	0.5547:0.0:0.4453:0.0	.	476;558	Q8NCV1;Q8NCV1-2	ADAD2_HUMAN;.	K	476;558	ENSP00000325153:E476K;ENSP00000268624:E558K	ENSP00000268624:E558K	E	+	1	0	0	ADAD2	82787377	82787377	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.435000	0.06931	-0.547000	0.06207	0.655000	0.94253	GAA		0.697	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433385.1		13.589305	21	21	99	99	NM_139174		9	20.595369	20.595369	51	0.150000	0	0	0	1	0	9	51	0.15
IMP4	92856	broad.mit.edu	37	2	131103363	131103363	+	Missense_Mutation	SNP	G	G	A	rs11542413		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:131103363G>A	ENST00000259239.3	+	6	1159	c.451G>A	c.(451-453)Gtc>Atc	p.V151I	IMP4_ENST00000409935.1_Missense_Mutation_p.V151I	NM_033416.1	NP_219484.1	Q96G21	IMP4_HUMAN	IMP4, U3 small nucleolar ribonucleoprotein	151	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				rRNA processing (GO:0006364)	nucleolus (GO:0005730)|ribonucleoprotein complex (GO:0030529)				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	18	Colorectal(110;0.1)					GGGGCTCATCGTCAGCCACCT	0.647													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17950	0.0		0.0	False		,,,				2504	0.0					ENST00000259239.3											0			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	18						c.(451-453)Gtc>Atc	IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast)						93.0	91.0	92.0					2																	131103363		2203	4300	6503	SO:0001583	missense	92856			rRNA processing|translation	nucleolus|ribonucleoprotein complex	aminoacyl-tRNA ligase activity|ATP binding|protein binding	g.chr2:131103363G>A	BC010042	BC010042	CCDS2160.1	CCDS2160.1	2q21.1	2014-02-19	2014-02-19		2014-02-19	2014-02-19		ENSG00000136718	ENSG00000136718	ENSG00000136718	ENSG00000136718				30856	30856	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612981	612981	"""IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast)"""		"""IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast)"""			8619474, 9110174, 12655004	8619474, 9110174, 12655004	Standard	Standard	NM_033416	NM_033416		Approved	MGC19606, BXDC4	uc002tra.1	uc002tra.1	Q96G21	Q96G21	OTTHUMG00000131627	OTTHUMG00000131627	ENST00000259239.3:c.451G>A	2.37:g.131103363G>A	ENSP00000259239:p.Val151Ile		IMP4_ENST00000409935.1_Missense_Mutation_p.V151I	p.V151I	NM_033416.1	NP_219484.1	Q96G21	IMP4_HUMAN			6	1159	+	Colorectal(110;0.1)		151	Brix.	Q3ZTT3	Missense_Mutation	SNP	ENST00000259239.3	37	c.451G>A	CCDS2160.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	12.80	2.047974	0.36085	.	.	ENSG00000136718	ENST00000259239;ENST00000409935;ENST00000409649;ENST00000428740	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.18	3.39	0.38822	5.18	3.39	0.38822	Brix domain (3);Anticodon-binding (1);	0.000000	0.85682	D	0.000000	T	0.20007	0.0481	N	0.08118	0	0.54753	D	0.99998	B	0.26975	0.165	B	0.28011	0.085	T	0.04708	-1.0932	10	0.09338	T	0.73	-35.085	9.9151	0.41430	0.1672:0.0:0.8328:0.0	rs11542413	151	Q96G21	IMP4_HUMAN	I	151;151;66;96	ENSP00000259239:V151I;ENSP00000386411:V151I;ENSP00000386716:V66I;ENSP00000389701:V96I	ENSP00000259239:V151I	V	+	1	0	0	IMP4	130819833	130819833	0.995000	0.38212	0.998000	0.56505	0.981000	0.71138	2.231000	0.43009	0.701000	0.31803	-0.123000	0.14984	GTC		0.647	IMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254520.2		76.502618	-6	-6	66	66	NM_033416		24	76.581633	76.581633	20	0.545455	0	0	0	1	0	24	20	0.545455
RYR2	6262	broad.mit.edu	37	1	237870347	237870347	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:237870347C>T	ENST00000366574.2	+	68	9996	c.9679C>T	c.(9679-9681)Cgc>Tgc	p.R3227C	RYR2_ENST00000360064.6_Missense_Mutation_p.R3225C|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.R3211C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3227					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTCCGGCATTCGCTACACTCA	0.473																																						ENST00000366574.2											0			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(9679-9681)Cgc>Tgc	ryanodine receptor 2 (cardiac)						122.0	120.0	121.0					1																	237870347		1998	4192	6190	SO:0001583	missense	6262			cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237870347C>T	X91869	X91869	CCDS55691.1	CCDS55691.1	1q43	2014-09-17			2014-09-17			ENSG00000198626	ENSG00000198626	ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	10484	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			180902	180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	2380170, 8406504, 11159936	Standard	Standard	NM_001035	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	uc001hyl.1	Q92736	Q92736	OTTHUMG00000039543	OTTHUMG00000039543	ENST00000366574.2:c.9679C>T	1.37:g.237870347C>T	ENSP00000355533:p.Arg3227Cys		RYR2_ENST00000360064.6_Missense_Mutation_p.R3225C|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.R3211C	p.R3227C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		68	9996	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3227		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.9679C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.231190	0.79688	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	T;D;T	0.88586	-0.23;-2.4;-0.23	5.72	5.72	0.89469	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000009	D	0.94019	0.8084	M	0.82630	2.6	0.80722	D	1	D	0.76494	0.999	P	0.56960	0.81	D	0.94377	0.7601	10	0.87932	D	0	-11.2401	19.8946	0.96949	0.0:1.0:0.0:0.0	.	3227	Q92736	RYR2_HUMAN	C	3227;3225;3211;182	ENSP00000355533:R3227C;ENSP00000353174:R3225C;ENSP00000443798:R3211C	ENSP00000353174:R3225C	R	+	1	0	0	RYR2	235936970	235936970	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	3.248000	0.51430	2.711000	0.92665	0.655000	0.94253	CGC		0.473	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2		96.850339	18	18	87	87	NM_001035		30	96.853848	96.853848	31	0.491803	0	0	0	1	0	30	31	0.491803
SGK223	157285	broad.mit.edu	37	8	8175725	8175725	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr8:8175725G>A	ENST00000520004.1	-	6	4424	c.4160C>T	c.(4159-4161)gCg>gTg	p.A1387V	SGK223_ENST00000330777.4_Missense_Mutation_p.A1387V			Q86YV5	SG223_HUMAN		1391							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										CCCGGGCTCCGCAGACGCCAG	0.647																																					GBM(34;731 755 10259 33573 33867)	ENST00000520004.1											0										c.(4159-4161)gCg>gTg							37.0	46.0	43.0					8																	8175725		2019	4175	6194	SO:0001583	missense	0					ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8175725G>A																																																	ENST00000520004.1:c.4160C>T	8.37:g.8175725G>A	ENSP00000428054:p.Ala1387Val		SGK223_ENST00000330777.4_Missense_Mutation_p.A1387V	p.A1387V			Q86YV5	SG223_HUMAN			6	4424	-			1387		Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	37	c.4160C>T	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.190369	0.78789	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.14516	2.5;2.5	5.48	5.48	0.80851	5.48	5.48	0.80851	.	0.054657	0.64402	D	0.000001	T	0.34948	0.0915	L	0.55213	1.73	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.01613	-1.1312	10	0.87932	D	0	.	18.7301	0.91731	0.0:0.0:1.0:0.0	.	1387	Q86YV5	SG223_HUMAN	V	1387	ENSP00000330930:A1387V;ENSP00000428054:A1387V	ENSP00000330930:A1387V	A	-	2	0	0	AC068353.1	8213135	8213135	1.000000	0.71417	0.163000	0.22734	0.480000	0.33159	9.825000	0.99386	2.748000	0.94277	0.462000	0.41574	GCG		0.647	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1		54.476626	3	3	54	54			17	54.503808	54.503808	15	0.531250	0	0	0	1	0	17	15	0.53125
KLHL41	10324	broad.mit.edu	37	2	170366495	170366495	+	Silent	SNP	G	G	A	rs373592757		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:170366495G>A	ENST00000284669.1	+	1	284	c.207G>A	c.(205-207)gcG>gcA	p.A69A	RP11-724O16.1_ENST00000513963.1_Intron|BBS5_ENST00000554017.1_Intron	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	69	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				myofibril assembly (GO:0030239)|protein ubiquitination (GO:0016567)|regulation of lateral pseudopodium assembly (GO:0031275)|regulation of myoblast differentiation (GO:0045661)|regulation of myoblast proliferation (GO:2000291)|regulation of skeletal muscle cell differentiation (GO:2001014)|skeletal muscle cell differentiation (GO:0035914)|striated muscle contraction (GO:0006941)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|M band (GO:0031430)|pseudopodium (GO:0031143)											TTGATGAGGCGAAAAAAAAGG	0.393																																						ENST00000284669.1											0										c.(205-207)gcG>gcA	kelch-like family member 41	G		1,4405	4.2+/-10.8	0,1,2202	147.0	146.0	146.0		207	1.1	0.5	2		146	0,8600		0,0,4300	no	coding-synonymous	KBTBD10	NM_006063.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		69/607	170366495	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10324						g.chr2:170366495G>A	AF056929	AF056929	CCDS2234.1	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474	ENSG00000239474	ENSG00000239474		"""Kelch-like"", ""BTB/POZ domain containing"""	"""Kelch-like"", ""BTB/POZ domain containing"""	16905	16905	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""sarcomeric muscle protein"""	"""sarcomeric muscle protein"""	607701	607701	"""kelch repeat and BTB (POZ) domain containing 10"", ""kelch-like 41 (Drosophila)"""	KBTBD10	"""kelch repeat and BTB (POZ) domain containing 10"", ""kelch-like 41 (Drosophila)"""	KBTBD10		9655184	9655184	Standard	Standard	NM_006063	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	uc002ueu.1	O60662	O60662	OTTHUMG00000132205	OTTHUMG00000132205	ENST00000284669.1:c.207G>A	2.37:g.170366495G>A			BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron	p.A69A	NM_006063.2	NP_006054.2					1	284	+					Q53R42	Silent	SNP	ENST00000284669.1	37	c.207G>A	CCDS2234.1																																																																																									0.393	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255263.1		26.755787	-8	-8	109	109	NM_006063		15	39.19459	39.194590	88	0.145631	0	0	0	1	0	15	88	0.145631
C2orf54	79919	broad.mit.edu	37	2	241829490	241829490	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:241829490C>T	ENST00000388934.4	-	3	984	c.826G>A	c.(826-828)Gac>Aac	p.D276N	C2orf54_ENST00000307486.8_Missense_Mutation_p.D127N|C2orf54_ENST00000402775.2_Missense_Mutation_p.D108N	NM_001085437.1	NP_001078906	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	276										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		TTGACCCGGTCGAGGATGGAG	0.662																																						ENST00000307486.8											0			haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6						c.(379-381)Gac>Aac	chromosome 2 open reading frame 54						47.0	56.0	53.0					2																	241829490		2096	4219	6315	SO:0001583	missense	79919						g.chr2:241829490C>T	AK026324, AK056601	AK026324, AK056601	CCDS42839.1, CCDS42840.1, CCDS63187.1	CCDS42839.1, CCDS42840.1, CCDS63187.1	2q37.3	2011-02-23			2011-02-23			ENSG00000172478	ENSG00000172478	ENSG00000172478	ENSG00000172478				26216	26216	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001282921	NM_001282921		Approved	FLJ22671	uc002wae.4	uc002wae.4	Q08AI8	Q08AI8	OTTHUMG00000151906	OTTHUMG00000151906	ENST00000388934.4:c.826G>A	2.37:g.241829490C>T	ENSP00000373586:p.Asp276Asn		C2orf54_ENST00000402775.2_Missense_Mutation_p.D108N|C2orf54_ENST00000388934.4_Missense_Mutation_p.D276N	p.D127N	NM_001282921.1	NP_001269850.1	Q08AI8	CB054_HUMAN		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	3	477	-		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	276		B3KPP9|H7BXM3|Q08AI9|Q53QU5|Q9H622	Missense_Mutation	SNP	ENST00000388934.4	37	c.379G>A	CCDS42839.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.315665	0.60524	.	.	ENSG00000172478	ENST00000402775;ENST00000307486;ENST00000388934	T;T;T	0.07567	3.18;3.18;3.18	3.73	3.73	0.42828	3.73	3.73	0.42828	.	0.253393	0.27851	N	0.017592	T	0.26629	0.0651	M	0.72118	2.19	0.33082	D	0.536817	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73380	0.97;0.98;0.922	T	0.40683	-0.9550	10	0.87932	D	0	0.7157	14.1323	0.65263	0.0:1.0:0.0:0.0	.	276;127;108	Q08AI8;B3KU29;Q08AI8-3	CB054_HUMAN;.;.	N	108;127;276	ENSP00000385338:D108N;ENSP00000302779:D127N;ENSP00000373586:D276N	ENSP00000302779:D127N	D	-	1	0	0	C2orf54	241478163	241478163	0.954000	0.32549	0.996000	0.52242	0.458000	0.32498	1.500000	0.35682	1.832000	0.53329	0.555000	0.69702	GAC		0.662	C2orf54-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324353.1		6.582204	11	11	60	60	NM_024861, NM_001085437		4	9.79109	9.791090	23	0.148148	0	0	0	1	0	4	23	0.148148
SSPO	23145	broad.mit.edu	37	7	149515812	149515812	+	RNA	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:149515812C>T	ENST00000378016.2	+	0	11713							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCTGCATGGCGCAGCCGCAC	0.687																																						ENST00000378016.2											0											SCO-spondin						16.0	18.0	17.0					7																	149515812		1986	4157	6143			23145			cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149515812C>T	AK093431	AK093431			7q36.1	2013-08-07	2013-08-06		2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558	ENSG00000197558	ENSG00000197558				21998	21998	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""			"""SCO-spondin homolog (Bos taurus)"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	8743952, 11008217	Standard	Standard	NM_198455	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	uc010lpk.3	A2VEC9	A2VEC9	OTTHUMG00000157884	OTTHUMG00000157884		7.37:g.149515812C>T							A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	11713	+	Melanoma(164;0.165)|Ovarian(565;0.177)				Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																											0.687	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript			8.835016	11	11	27	27			5	10.001749	10.001749	15	0.250000	0	0	0	1	0	5	15	0.25
ELMO2	63916	broad.mit.edu	37	20	45000478	45000478	+	Missense_Mutation	SNP	A	A	G			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr20:45000478A>G	ENST00000290246.6	-	17	1741	c.1547T>C	c.(1546-1548)aTg>aCg	p.M516T	ELMO2_ENST00000445496.2_Missense_Mutation_p.M333T|ELMO2_ENST00000352077.2_Missense_Mutation_p.M514T|ELMO2_ENST00000372176.1_Missense_Mutation_p.M428T|ELMO2_ENST00000396391.1_Missense_Mutation_p.M516T|ELMO2_ENST00000439931.2_Missense_Mutation_p.M528T|ELMO2_ENST00000454865.2_Missense_Mutation_p.M248T|ELMO2_ENST00000488853.1_5'Flank	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	516					apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				ATCCTGACTCATCCTCTCAGA	0.547																																						ENST00000372176.1											0			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16						c.(1282-1284)aTg>aCg	engulfment and cell motility 2						79.0	73.0	75.0					20																	45000478		2203	4300	6503	SO:0001583	missense	63916			apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding	g.chr20:45000478A>G	AF398886	AF398886	CCDS13398.1	CCDS13398.1	20q13	2010-03-18	2006-01-20		2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598	ENSG00000062598	ENSG00000062598		"""Engulfment and cell motility proteins"""	"""Engulfment and cell motility proteins"""	17233	17233	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606421	606421	"""engulfment and cell motility 2 (ced-12 homolog, C. elegans)"""		"""engulfment and cell motility 2 (ced-12 homolog, C. elegans)"""			11595183	11595183	Standard	Standard	NM_133171	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	uc002xru.1	Q96JJ3	Q96JJ3	OTTHUMG00000033070	OTTHUMG00000033070	ENST00000290246.6:c.1547T>C	20.37:g.45000478A>G	ENSP00000290246:p.Met516Thr		ELMO2_ENST00000439931.2_Missense_Mutation_p.M528T|ELMO2_ENST00000454865.2_Missense_Mutation_p.M248T|ELMO2_ENST00000396391.1_Missense_Mutation_p.M516T|ELMO2_ENST00000352077.2_Missense_Mutation_p.M514T|ELMO2_ENST00000445496.2_Missense_Mutation_p.M333T|ELMO2_ENST00000290246.6_Missense_Mutation_p.M516T	p.M428T			Q96JJ3	ELMO2_HUMAN			17	1751	-		Myeloproliferative disorder(115;0.0122)	516	ELMO.	E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Missense_Mutation	SNP	ENST00000290246.6	37	c.1283T>C	CCDS13398.1	.	.	.	.	.	.	.	.	.	.	A	5.037	0.192575	0.09599	.	.	ENSG00000062598	ENST00000290246;ENST00000372176;ENST00000452857;ENST00000396391;ENST00000439931;ENST00000445496;ENST00000454865;ENST00000352077	T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	4.79	4.79	0.61399	4.79	4.79	0.61399	.	0.037568	0.85682	D	0.000000	T	0.25494	0.0620	N	0.20685	0.6	0.80722	D	1	B;B;B;B	0.16802	0.019;0.0;0.008;0.008	B;B;B;B	0.21151	0.016;0.002;0.033;0.024	T	0.07731	-1.0757	10	0.02654	T	1	-26.9287	13.9627	0.64191	1.0:0.0:0.0:0.0	.	528;248;333;516	B4DRL5;B4DZ20;B7Z1S8;Q96JJ3	.;.;.;ELMO2_HUMAN	T	516;428;83;516;528;333;248;514	ENSP00000290246:M516T;ENSP00000361249:M428T;ENSP00000414329:M83T;ENSP00000379673:M516T;ENSP00000396519:M528T;ENSP00000409920:M333T;ENSP00000415641:M248T;ENSP00000326172:M514T	ENSP00000290246:M516T	M	-	2	0	0	ELMO2	44433885	44433885	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.087000	0.94110	2.129000	0.65627	0.533000	0.62120	ATG		0.547	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080466.1		-2.739875	-18	-18	65	65	NM_022086		4	8.392302	8.392302	54	0.068966	0	0	0	1	0	4	54	0.068966
EDN1	1906	broad.mit.edu	37	6	12292598	12292598	+	Missense_Mutation	SNP	C	C	T	rs202087445		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:12292598C>T	ENST00000379375.5	+	2	356	c.89C>T	c.(88-90)gCg>gTg	p.A30V		NM_001168319.1|NM_001955.4	NP_001161791.1|NP_001946.3	P05305	EDN1_HUMAN	endothelin 1	30					artery smooth muscle contraction (GO:0014824)|body fluid secretion (GO:0007589)|calcium-mediated signaling (GO:0019722)|cartilage development (GO:0051216)|cell growth (GO:0016049)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|dorsal/ventral pattern formation (GO:0009953)|epithelial fluid transport (GO:0042045)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose transport (GO:0015758)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|inositol phosphate-mediated signaling (GO:0048016)|leukocyte activation (GO:0045321)|maternal process involved in parturition (GO:0060137)|membrane depolarization (GO:0051899)|middle ear morphogenesis (GO:0042474)|multicellular organismal aging (GO:0010259)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of hormone secretion (GO:0046888)|negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|nitric oxide transport (GO:0030185)|patterning of blood vessels (GO:0001569)|peptide hormone secretion (GO:0030072)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase D-activating G-protein coupled receptor signaling pathway (GO:0031583)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of heart rate (GO:0010460)|positive regulation of hormone secretion (GO:0046887)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of odontogenesis (GO:0042482)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of urine volume (GO:0035810)|prostaglandin biosynthetic process (GO:0001516)|protein kinase C deactivation (GO:0042313)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|respiratory gaseous exchange (GO:0007585)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to testosterone (GO:0033574)|rhythmic excitation (GO:0043179)|sensory perception of pain (GO:0019233)|superoxide anion generation (GO:0042554)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|endothelin A receptor binding (GO:0031707)|endothelin B receptor binding (GO:0031708)|hormone activity (GO:0005179)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				GAGCTCAGCGCGGTGGGTGAG	0.612																																						ENST00000379375.5											0			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13						c.(88-90)gCg>gTg	endothelin 1						76.0	83.0	81.0					6																	12292598		2202	4300	6502	SO:0001583	missense	1906			artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of JUN kinase activity|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	cytoplasm|extracellular space	cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity	g.chr6:12292598C>T	S56805	S56805	CCDS4522.1	CCDS4522.1	6p24.1	2014-03-19			2014-03-19			ENSG00000078401	ENSG00000078401	ENSG00000078401	ENSG00000078401		"""Endogenous ligands"""	"""Endogenous ligands"""	3176	3176	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			131240	131240								Standard	Standard	NM_001168319	NM_001168319		Approved	ET1	uc003nae.4	uc003nae.4	P05305	P05305	OTTHUMG00000014266	OTTHUMG00000014266	ENST00000379375.5:c.89C>T	6.37:g.12292598C>T	ENSP00000368683:p.Ala30Val			p.A30V	NM_001168319.1|NM_001955.4	NP_001161791.1|NP_001946.3	P05305	EDN1_HUMAN			2	356	+	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)	30		Q96DA1	Missense_Mutation	SNP	ENST00000379375.5	37	c.89C>T	CCDS4522.1	.	.	.	.	.	.	.	.	.	.	c	16.04	3.009757	0.54361	.	.	ENSG00000078401	ENST00000379375	D	0.84589	-1.87	5.99	3.31	0.37934	5.99	3.31	0.37934	.	0.739422	0.13381	N	0.392146	T	0.51517	0.1679	N	0.08118	0	0.09310	N	1	B;B	0.18863	0.031;0.031	B;B	0.16289	0.015;0.015	T	0.44787	-0.9305	10	0.35671	T	0.21	-16.9053	9.9686	0.41741	0.0:0.793:0.0:0.207	.	30;30	Q6FH53;P05305	.;EDN1_HUMAN	V	30	ENSP00000368683:A30V	ENSP00000368683:A30V	A	+	2	0	0	EDN1	12400584	12400584	0.026000	0.19158	0.005000	0.12908	0.069000	0.16628	2.895000	0.48648	0.450000	0.26774	-0.119000	0.15052	GCG		0.612	EDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039872.1		-14.314068	-17	-17	138	138	NM_001955		5	9.684012	9.684012	104	0.045872	0	0	0	1	0	5	104	0.045872
ASCC3	10973	broad.mit.edu	37	6	101075824	101075824	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:101075824C>T	ENST00000369162.2	-	28	4759	c.4415G>A	c.(4414-4416)cGa>cAa	p.R1472Q		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1472	Helicase ATP-binding 2. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AAAATTTGTTCGAGATACAAT	0.393																																						ENST00000369162.2											0			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92						c.(4414-4416)cGa>cAa	activating signal cointegrator 1 complex subunit 3						108.0	105.0	106.0					6																	101075824		2203	4300	6503	SO:0001583	missense	10973			regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101075824C>T	AJ223948	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249	ENSG00000112249	ENSG00000112249				18697	18697	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""RNA helicase family"""	"""RNA helicase family"""	614217	614217	"""helicase, ATP binding 1"""	HELIC1	"""helicase, ATP binding 1"""	HELIC1		10218103	10218103	Standard	Standard	NM_006828	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	uc003pqk.3	Q8N3C0	Q8N3C0	OTTHUMG00000015279	OTTHUMG00000015279	ENST00000369162.2:c.4415G>A	6.37:g.101075824C>T	ENSP00000358159:p.Arg1472Gln			p.R1472Q	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	28	4759	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	1472	Helicase ATP-binding 2.	E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	c.4415G>A	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	C	35	5.466401	0.96257	.	.	ENSG00000112249	ENST00000369162	T	0.15372	2.43	6.17	6.17	0.99709	6.17	6.17	0.99709	DEAD-like helicase (2);ATPase, AAA+ type, core (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.58148	0.2102	H	0.98256	4.185	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73282	-0.4032	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1472	Q8N3C0	HELC1_HUMAN	Q	1472	ENSP00000358159:R1472Q	ENSP00000358159:R1472Q	R	-	2	0	0	ASCC3	101182545	101182545	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	CGA		0.393	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2		10.520426	2	2	54	54	NM_006828		6	15.917413	15.917413	37	0.139535	0	0	0	1	0	6	37	0.139535
KIAA1919	91749	broad.mit.edu	37	6	111583554	111583554	+	Missense_Mutation	SNP	G	G	A	rs200995803		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:111583554G>A	ENST00000368847.4	+	2	475	c.122G>A	c.(121-123)cGt>cAt	p.R41H		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	41					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		TTTGTGGGTCGTGCCTTGGGA	0.383																																						ENST00000368847.4											0			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12						c.(121-123)cGt>cAt	KIAA1919						371.0	349.0	357.0					6																	111583554		2203	4300	6503	SO:0001583	missense	91749			carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr6:111583554G>A	BC036115	BC036115	CCDS5090.1	CCDS5090.1	6q22	2013-10-02			2013-10-02			ENSG00000173214	ENSG00000173214	ENSG00000173214	ENSG00000173214				21053	21053	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_153369	NM_153369		Approved	MGC33953, MFSD4B	uc003puv.4	uc003puv.4	Q5TF39	Q5TF39	OTTHUMG00000015372	OTTHUMG00000015372	ENST00000368847.4:c.122G>A	6.37:g.111583554G>A	ENSP00000357840:p.Arg41His			p.R41H	NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)	2	475	+		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)	41		A8K9M0|Q8IYB6|Q96PW9|Q9P0D6	Missense_Mutation	SNP	ENST00000368847.4	37	c.122G>A	CCDS5090.1	.	.	.	.	.	.	.	.	.	.	G	35	5.535304	0.96460	.	.	ENSG00000173214	ENST00000368847	T	0.57436	0.4	6.04	6.04	0.98038	6.04	6.04	0.98038	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.72471	0.3464	M	0.80508	2.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73414	-0.3990	10	0.66056	D	0.02	-13.4087	20.1743	0.98175	0.0:0.0:1.0:0.0	.	41	Q5TF39	NAGT1_HUMAN	H	41	ENSP00000357840:R41H	ENSP00000357840:R41H	R	+	2	0	0	KIAA1919	111690247	111690247	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.546000	0.90661	2.873000	0.98535	0.561000	0.74099	CGT		0.383	KIAA1919-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041827.1		159.145812	-27	-27	208	208	NM_153369		56	164.720642	164.720642	123	0.312849	0	0	0	1	0	56	123	0.312849
FAT2	2196	broad.mit.edu	37	5	150891882	150891882	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:150891882C>T	ENST00000261800.5	-	20	11761	c.11749G>A	c.(11749-11751)Gtg>Atg	p.V3917M	CTC-251D13.1_ENST00000606930.1_RNA	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3917	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCGTTGACCACGACAGCATCC	0.592																																						ENST00000261800.5											0			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(11749-11751)Gtg>Atg	FAT atypical cadherin 2						78.0	75.0	76.0					5																	150891882		2203	4300	6503	SO:0001583	missense	2196			epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150891882C>T	AF231022	AF231022	CCDS4317.1	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570	ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	"""Cadherins / Cadherin-related"""	3596	3596	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	"""cadherin-related family member 9"""	604269	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""		"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	9693030	Standard	Standard	NM_001447	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	uc003lue.4	Q9NYQ8	Q9NYQ8	OTTHUMG00000130126	OTTHUMG00000130126	ENST00000261800.5:c.11749G>A	5.37:g.150891882C>T	ENSP00000261800:p.Val3917Met		CTC-251D13.1_ENST00000606930.1_RNA	p.V3917M	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		20	11761	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	3917	Laminin G-like.	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.11749G>A	CCDS4317.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.155|3.155	-0.173462|-0.173462	0.06421|0.06421	.|.	.|.	ENSG00000086570|ENSG00000086570	ENST00000520200|ENST00000261800	.|T	.|0.78707	.|-1.2	5.16|5.16	-5.74|-5.74	0.02391|0.02391	5.16|5.16	-5.74|-5.74	0.02391|0.02391	.|Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.|1.420810	.|0.04654	.|N	.|0.407616	T|T	0.62502|0.62502	0.2433|0.2433	N|N	0.25647|0.25647	0.755|0.755	0.09310|0.09310	N|N	1|1	.|B;B	.|0.19445	.|0.036;0.019	.|B;B	.|0.19148	.|0.024;0.002	T|T	0.48658|0.48658	-0.9016|-0.9016	5|10	.|0.33141	.|T	.|0.24	.|.	8.2577|8.2577	0.31766|0.31766	0.1709:0.3172:0.0:0.5119|0.1709:0.3172:0.0:0.5119	.|.	.|3917;1022	.|Q9NYQ8;E9PDJ8	.|FAT2_HUMAN;.	H|M	689|3917	.|ENSP00000261800:V3917M	.|ENSP00000261800:V3917M	R|V	-|-	2|1	0|0	0|0	FAT2|FAT2	150872075|150872075	150872075|150872075	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.311000|0.311000	0.27955|0.27955	-1.725000|-1.725000	0.01863|0.01863	-1.472000|-1.472000	0.01883|0.01883	-2.636000|-2.636000	0.00152|0.00152	CGT|GTG		0.592	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1		4.775173	-7	-7	58	58	NM_001447		4	9.662167	9.662167	30	0.117647	0	0	0	1	0	4	30	0.117647
XRCC2	7516	broad.mit.edu	37	7	152345797	152345797	+	Missense_Mutation	SNP	C	C	T	rs149186933		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:152345797C>T	ENST00000359321.1	-	3	858	c.773G>A	c.(772-774)cGt>cAt	p.R258H	XRCC2_ENST00000495707.1_5'UTR	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 2	258					centrosome organization (GO:0051297)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of neurogenesis (GO:0050769)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|strand invasion (GO:0042148)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)	p.R258H(1)		NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		TTTTAAACAACGTGAAACTAA	0.333								Homologous recombination																														ENST00000359321.1											1	Substitution - Missense(1)	large_intestine(1)	NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11						c.(772-774)cGt>cAt	X-ray repair complementing defective repair in Chinese hamster cells 2	C	HIS/ARG	0,4406		0,0,2203	85.0	90.0	89.0		773	1.5	0.9	7	dbSNP_134	89	1,8599	1.2+/-3.3	0,1,4299	no	missense	XRCC2	NM_005431.1	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	258/281	152345797	1,13005	2203	4300	6503	SO:0001583	missense	7516			meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr7:152345797C>T	Y08837	Y08837	CCDS5933.1	CCDS5933.1	7q36	2006-05-04			2006-05-04			ENSG00000196584	ENSG00000196584	ENSG00000196584	ENSG00000196584				12829	12829	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""RAD51-like"""	"""RAD51-like"""	600375	600375						7607692, 10422536	7607692, 10422536	Standard	Standard	NM_005431	NM_005431		Approved		uc003wld.3	uc003wld.3	O43543	O43543	OTTHUMG00000151470	OTTHUMG00000151470	ENST00000359321.1:c.773G>A	7.37:g.152345797C>T	ENSP00000352271:p.Arg258His		XRCC2_ENST00000495707.1_5'UTR	p.R258H	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)	3	858	-		all_hematologic(28;0.0592)|Prostate(32;0.081)	258		B2R925	Missense_Mutation	SNP	ENST00000359321.1	37	c.773G>A	CCDS5933.1	.	.	.	.	.	.	.	.	.	.	C	6.232	0.410989	0.11812	0.0	1.16E-4	ENSG00000196584	ENST00000359321	T	0.66099	-0.19	5.29	1.47	0.22746	5.29	1.47	0.22746	.	0.634660	0.16755	N	0.200854	T	0.53334	0.1790	L	0.57536	1.79	0.24281	N	0.995205	B	0.12630	0.006	B	0.06405	0.002	T	0.41770	-0.9490	10	0.28530	T	0.3	-13.3511	9.4934	0.38974	0.0:0.7092:0.0:0.2908	.	258	O43543	XRCC2_HUMAN	H	258	ENSP00000352271:R258H	ENSP00000352271:R258H	R	-	2	0	0	XRCC2	151976730	151976730	0.978000	0.34361	0.943000	0.38184	0.129000	0.20672	0.387000	0.20718	0.248000	0.21435	-0.262000	0.10625	CGT		0.333	XRCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322783.1		-1.442304	-15	-15	77	77	NM_005431		4	7.826355	7.826355	47	0.078431	0	0	0	1	0	4	47	0.078431
WDR27	253769	broad.mit.edu	37	6	170068142	170068142	+	Missense_Mutation	SNP	G	G	A	rs376971037		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:170068142G>A	ENST00000448612.1	-	5	705	c.596C>T	c.(595-597)gCg>gTg	p.A199V	WDR27_ENST00000420344.2_Intron|WDR27_ENST00000423258.1_Intron|WDR27_ENST00000333572.6_Missense_Mutation_p.A199V|WDR27_ENST00000546525.1_5'Flank	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	169						nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		GAACTCCACCGCAGTCACCGG	0.632																																						ENST00000333572.6											0			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12						c.(595-597)gCg>gTg	WD repeat domain 27	G	VAL/ALA,	0,4144		0,0,2072	66.0	78.0	74.0		596,	5.2	0.1	6		74	1,8393		0,1,4196	no	missense,intron	WDR27	NM_182552.4,NM_001202550.1	64,	0,1,6268	AA,AG,GG		0.0119,0.0,0.0080	probably-damaging,	199/896,	170068142	1,12537	2072	4197	6269	SO:0001583	missense	253769						g.chr6:170068142G>A	AK131435	AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465	ENSG00000184465	ENSG00000184465		"""WD repeat domain containing"""	"""WD repeat domain containing"""	21248	21248	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_182552	NM_182552		Approved	MGC43690	uc003qwx.3	uc003qwx.3	A2RRH5	A2RRH5	OTTHUMG00000016061	OTTHUMG00000016061	ENST00000448612.1:c.596C>T	6.37:g.170068142G>A	ENSP00000416289:p.Ala199Val		WDR27_ENST00000423258.1_Intron|WDR27_ENST00000420344.2_Intron|WDR27_ENST00000448612.1_Missense_Mutation_p.A199V	p.A199V			A2RRH5	WDR27_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)	5	1115	-		Breast(66;1.53e-05)|Ovarian(120;0.216)	169		A5PLM8|C9JGV0|Q5T066	Missense_Mutation	SNP	ENST00000448612.1	37	c.596C>T	CCDS47520.2	.	.	.	.	.	.	.	.	.	.	G	25.7	4.660163	0.88154	0.0	1.19E-4	ENSG00000184465	ENST00000448612;ENST00000333572	T;T	0.61859	0.07;0.07	5.24	5.24	0.73138	5.24	5.24	0.73138	.	0.080255	0.48767	D	0.000172	T	0.67392	0.2888	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69307	0.95;0.963	T	0.70726	-0.4793	10	0.72032	D	0.01	-20.5923	17.5919	0.87999	0.0:0.0:1.0:0.0	.	199;199	F2Z2U5;C9JGV0	.;.	V	199	ENSP00000416289:A199V;ENSP00000330265:A199V	ENSP00000330265:A199V	A	-	2	0	0	WDR27	169810067	169810067	0.988000	0.35896	0.057000	0.19452	0.910000	0.53928	4.845000	0.62853	2.452000	0.82932	0.650000	0.86243	GCG		0.632	WDR27-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407334.1		18.012097	2	2	30	30	NM_182552		7	19.602425	19.602425	21	0.250000	0	0	0	1	0	7	21	0.25
KPNB1	3837	broad.mit.edu	37	17	45742469	45742469	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:45742469C>T	ENST00000290158.4	+	9	1351	c.944C>T	c.(943-945)gCg>gTg	p.A315V	KPNB1_ENST00000535458.2_Missense_Mutation_p.A170V|KPNB1_ENST00000540627.1_Missense_Mutation_p.A170V|KPNB1_ENST00000537679.1_Intron	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	315					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|protein import into nucleus (GO:0006606)|protein import into nucleus, translocation (GO:0000060)|ribosomal protein import into nucleus (GO:0006610)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						AAGTTTTATGCGAAGGGAGCA	0.458																																						ENST00000290158.4											0			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						c.(943-945)gCg>gTg	karyopherin (importin) beta 1						99.0	91.0	94.0					17																	45742469		2203	4300	6503	SO:0001583	missense	3837			DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding	g.chr17:45742469C>T	L39793	L39793	CCDS11513.1, CCDS62228.1	CCDS11513.1, CCDS62228.1	17q21.32	2013-02-14			2013-02-14			ENSG00000108424	ENSG00000108424	ENSG00000108424	ENSG00000108424		"""Importins"", ""Armadillo repeat containing"""	"""Importins"", ""Armadillo repeat containing"""	6400	6400	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""importin 1"""	"""importin 1"""	602738	602738						7615630, 7627554	7615630, 7627554	Standard	Standard	NM_002265	NM_002265		Approved	NTF97, IPOB, MGC2155, MGC2156, MGC2157, IMB1, Impnb, IPO1	uc002ilt.2	uc002ilt.2	Q14974	Q14974	OTTHUMG00000036957	OTTHUMG00000036957	ENST00000290158.4:c.944C>T	17.37:g.45742469C>T	ENSP00000290158:p.Ala315Val		KPNB1_ENST00000537679.1_Intron|KPNB1_ENST00000540627.1_Missense_Mutation_p.A170V|KPNB1_ENST00000535458.2_Missense_Mutation_p.A170V	p.A315V	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN			9	1351	+			315		B7ZAV6|D3DTT3|Q14637|Q53XN2|Q96J27	Missense_Mutation	SNP	ENST00000290158.4	37	c.944C>T	CCDS11513.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.887823	0.91814	.	.	ENSG00000108424	ENST00000535458;ENST00000290158;ENST00000540627	T;T;T	0.68331	-0.32;-0.32;-0.32	5.98	5.98	0.97165	5.98	5.98	0.97165	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65502	0.2697	M	0.62154	1.92	0.40003	D	0.975197	D	0.64830	0.994	B	0.39531	0.302	T	0.68938	-0.5277	9	0.36615	T	0.2	-4.2011	20.4561	0.99145	0.0:1.0:0.0:0.0	.	315	Q14974	IMB1_HUMAN	V	170;315;170	ENSP00000438253:A170V;ENSP00000290158:A315V;ENSP00000438964:A170V	ENSP00000290158:A315V	A	+	2	0	0	KPNB1	43097468	43097468	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.847000	0.97988	0.591000	0.81541	GCG		0.458	KPNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089755.2		8.685645	5	5	44	44	NM_002265		4	10.993975	10.993975	19	0.173913	0	0	0	1	0	4	19	0.173913
MSR1	4481	broad.mit.edu	37	8	16012621	16012621	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr8:16012621G>A	ENST00000262101.5	-	6	971	c.850C>T	c.(850-852)Cga>Tga	p.R284*	MSR1_ENST00000536385.1_Nonsense_Mutation_p.R58*|MSR1_ENST00000445506.2_Nonsense_Mutation_p.R302*|MSR1_ENST00000381998.4_Nonsense_Mutation_p.R284*|MSR1_ENST00000350896.3_Nonsense_Mutation_p.R284*|MSR1_ENST00000355282.2_Nonsense_Mutation_p.R284*			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	284	Collagen-like.				cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		GTGGGACCTCGATCTCCTTTT	0.393																																						ENST00000350896.3											0			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(850-852)Cga>Tga	macrophage scavenger receptor 1						69.0	69.0	69.0					8																	16012621		2203	4300	6503	SO:0001587	stop_gained	0			cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	g.chr8:16012621G>A	D13263	D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			2006-02-22			ENSG00000038945	ENSG00000038945	ENSG00000038945	ENSG00000038945		"""CD molecules"""	"""CD molecules"""	7376	7376	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			153622	153622						2251254	2251254	Standard	Standard	NM_138715	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	uc003wwz.3	P21757	P21757	OTTHUMG00000094809	OTTHUMG00000094809	ENST00000262101.5:c.850C>T	8.37:g.16012621G>A	ENSP00000262101:p.Arg284*		MSR1_ENST00000262101.5_Nonsense_Mutation_p.R284*|MSR1_ENST00000536385.1_Nonsense_Mutation_p.R58*|MSR1_ENST00000355282.2_Nonsense_Mutation_p.R284*|MSR1_ENST00000381998.4_Nonsense_Mutation_p.R284*|MSR1_ENST00000445506.2_Nonsense_Mutation_p.R302*	p.R284*	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN		Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)	6	1047	-			284	Collagen-like.	D3DSP3|O60505|P21759|Q45F10	Nonsense_Mutation	SNP	ENST00000262101.5	37	c.850C>T	CCDS5995.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.894614	0.91962	.	.	ENSG00000038945	ENST00000350896;ENST00000262101;ENST00000445506;ENST00000355282;ENST00000522672;ENST00000381998;ENST00000536385	.	.	.	4.87	0.814	0.18756	4.87	0.814	0.18756	.	0.329552	0.26032	N	0.026754	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.5783	0.50877	0.0:0.0:0.5001:0.4999	.	.	.	.	X	284;284;302;284;74;284;58	.	ENSP00000262101:R284X	R	-	1	2	2	MSR1	16056992	16056992	0.409000	0.25368	0.953000	0.39169	0.259000	0.26198	0.384000	0.20668	0.379000	0.24794	-0.284000	0.09977	CGA		0.393	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2		-0.842896	9	9	58	58			4	9.218738	9.218738	50	0.074074	0	0	0	1	0	4	50	0.074074
PPL	5493	broad.mit.edu	37	16	4933601	4933601	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:4933601G>A	ENST00000345988.2	-	22	5144	c.5055C>T	c.(5053-5055)ttC>ttT	p.F1685F	PPL_ENST00000590782.2_Silent_p.F1683F	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1685					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TGAGTTTCACGAACATGTTCC	0.592																																						ENST00000345988.2											0			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(5053-5055)ttC>ttT	periplakin						73.0	66.0	69.0					16																	4933601		2197	4300	6497	SO:0001819	synonymous_variant	5493			keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4933601G>A	AF013717	AF013717	CCDS10526.1	CCDS10526.1	16p13.3	2008-02-05			2008-02-05			ENSG00000118898	ENSG00000118898	ENSG00000118898	ENSG00000118898				9273	9273	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602871	602871						9570964, 9521878	9570964, 9521878	Standard	Standard	NM_002705	NM_002705		Approved		uc002cyd.1	uc002cyd.1	O60437	O60437	OTTHUMG00000129528	OTTHUMG00000129528	ENST00000345988.2:c.5055C>T	16.37:g.4933601G>A			PPL_ENST00000590782.2_Silent_p.F1683F	p.F1685F	NM_002705.4	NP_002696	O60437	PEPL_HUMAN			22	5144	-			1685		O60314|O60454|Q14C98	Silent	SNP	ENST00000345988.2	37	c.5055C>T	CCDS10526.1																																																																																									0.592	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1		50.000251	3	3	47	47	NM_002705		16	50.007247	50.007247	15	0.516129	0	0	0	1	0	16	15	0.516129
GIP	2695	broad.mit.edu	37	17	47041771	47041771	+	Missense_Mutation	SNP	G	G	A	rs367741847		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:47041771G>A	ENST00000357424.2	-	3	258	c.158C>T	c.(157-159)gCg>gTg	p.A53V		NM_004123.2	NP_004114.1	P09681	GIP_HUMAN	gastric inhibitory polypeptide	53					adult locomotory behavior (GO:0008344)|cellular protein metabolic process (GO:0044267)|digestive system development (GO:0055123)|endocrine pancreas development (GO:0031018)|exploration behavior (GO:0035640)|female pregnancy (GO:0007565)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of glucagon secretion (GO:0070094)|positive regulation of glucose transport (GO:0010828)|positive regulation of insulin secretion (GO:0032024)|regulation of insulin secretion (GO:0050796)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to lipid (GO:0033993)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|response to selenium ion (GO:0010269)|response to starvation (GO:0042594)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|triglyceride homeostasis (GO:0070328)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|secretory granule lumen (GO:0034774)	hormone activity (GO:0005179)			lung(2)|skin(1)|stomach(1)	4						AGTCCCTTCCGCGTACCTGGG	0.552																																						ENST00000357424.2											0			lung(2)|skin(1)|stomach(1)	4						c.(157-159)gCg>gTg	gastric inhibitory polypeptide	G	VAL/ALA	0,4406		0,0,2203	150.0	129.0	136.0		158	5.3	0.6	17		136	1,8599	1.2+/-3.3	0,1,4299	no	missense	GIP	NM_004123.2	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	53/154	47041771	1,13005	2203	4300	6503	SO:0001583	missense	2695			energy reserve metabolic process|signal transduction	extracellular region|soluble fraction	hormone activity	g.chr17:47041771G>A			CCDS11542.1	CCDS11542.1	17q21.3-q22	2013-02-26			2013-02-26			ENSG00000159224	ENSG00000159224	ENSG00000159224	ENSG00000159224		"""Endogenous ligands"""	"""Endogenous ligands"""	4270	4270	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""glucose-dependent insulinotropic polypeptide"""	"""glucose-dependent insulinotropic polypeptide"""	137240	137240						2739653	2739653	Standard	Standard	NM_004123	NM_004123		Approved		uc002iol.1	uc002iol.1	P09681	P09681	OTTHUMG00000161171	OTTHUMG00000161171	ENST00000357424.2:c.158C>T	17.37:g.47041771G>A	ENSP00000350005:p.Ala53Val			p.A53V	NM_004123.2	NP_004114.1	P09681	GIP_HUMAN			3	258	-			53		Q4VB42|Q6NTD3	Missense_Mutation	SNP	ENST00000357424.2	37	c.158C>T	CCDS11542.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.048167	0.93740	0.0	1.16E-4	ENSG00000159224	ENST00000357424	T	0.55234	0.53	5.32	5.32	0.75619	5.32	5.32	0.75619	Glucagon/GIP/secretin/VIP (3);	0.109714	0.41097	D	0.000945	T	0.72479	0.3465	M	0.78344	2.41	0.36540	D	0.871212	D	0.89917	1.0	D	0.91635	0.999	T	0.79205	-0.1899	10	0.72032	D	0.01	-13.4303	14.357	0.66745	0.0:0.0:1.0:0.0	.	53	P09681	GIP_HUMAN	V	53	ENSP00000350005:A53V	ENSP00000350005:A53V	A	-	2	0	0	GIP	44396770	44396770	0.714000	0.27936	0.596000	0.28811	0.500000	0.33767	4.738000	0.62073	2.769000	0.95229	0.563000	0.77884	GCG		0.552	GIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364044.1		34.391749	-20	-20	87	87	NM_004123		15	38.341159	38.341159	48	0.238095	0	0	0	1	0	15	48	0.238095
IL25	64806	broad.mit.edu	37	14	23845042	23845042	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr14:23845042C>T	ENST00000329715.2	+	2	745	c.487C>T	c.(487-489)Cgt>Tgt	p.R163C	CMTM5_ENST00000382809.2_5'Flank|CMTM5_ENST00000397227.3_5'Flank|CMTM5_ENST00000342473.4_5'Flank|CMTM5_ENST00000359320.3_5'Flank|CMTM5_ENST00000339180.4_5'Flank|IL25_ENST00000397242.2_Missense_Mutation_p.R147C|CMTM5_ENST00000555731.1_5'Flank	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25	163					eosinophil differentiation (GO:0030222)|inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to fungus (GO:0009620)|response to nematode (GO:0009624)	extracellular space (GO:0005615)	interleukin-17E receptor binding (GO:0030380)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		CAGGCTGTACCGTGTTTCCTT	0.612																																						ENST00000329715.2											0			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						c.(487-489)Cgt>Tgt	interleukin 25						157.0	142.0	147.0					14																	23845042		2203	4300	6503	SO:0001583	missense	0			inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding	g.chr14:23845042C>T	AF305200	AF305200	CCDS9597.1, CCDS45086.1	CCDS9597.1, CCDS45086.1	14q11.2	2008-01-07	2006-05-17	2006-05-17	2008-01-07	2006-05-17	2006-05-17	ENSG00000166090	ENSG00000166090	ENSG00000166090	ENSG00000166090		"""Interleukins and interleukin receptors"""	"""Interleukins and interleukin receptors"""	13765	13765	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605658	605658	"""interleukin 17E"""	IL17E	"""interleukin 17E"""	IL17E		11058597, 11754819	11058597, 11754819	Standard	Standard	NM_172314	NM_172314		Approved	IL-25, IL-17E	uc001wjq.3	uc001wjq.3	Q9H293	Q9H293	OTTHUMG00000028749	OTTHUMG00000028749	ENST00000329715.2:c.487C>T	14.37:g.23845042C>T	ENSP00000328111:p.Arg163Cys		IL25_ENST00000397242.2_Missense_Mutation_p.R147C	p.R163C	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN		GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)	2	745	+	all_cancers(95;2e-05)		163		Q2M3F0|Q8IZV3|Q8WXB0	Missense_Mutation	SNP	ENST00000329715.2	37	c.487C>T	CCDS9597.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062144	0.76187	.	.	ENSG00000166090	ENST00000397242;ENST00000329715	T;T	0.56275	0.47;0.47	4.58	4.58	0.56647	4.58	4.58	0.56647	.	0.391738	0.22245	N	0.062631	T	0.61464	0.2349	L	0.54323	1.7	0.47153	D	0.999339	D;D	0.76494	0.999;0.998	P;P	0.57679	0.825;0.742	T	0.63093	-0.6714	10	0.54805	T	0.06	-10.6501	12.7393	0.57241	0.0:1.0:0.0:0.0	.	163;147	Q9H293;Q9H293-2	IL25_HUMAN;.	C	147;163	ENSP00000380417:R147C;ENSP00000328111:R163C	ENSP00000328111:R163C	R	+	1	0	0	IL25	22914882	22914882	0.987000	0.35691	0.980000	0.43619	0.983000	0.72400	3.627000	0.54252	2.405000	0.81733	0.561000	0.74099	CGT		0.612	IL25-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071789.2		96.153702	-9	-9	86	86			30	96.153702	96.153702	30	0.500000	0	0	0	1	0	30	30	0.5
SMARCA4	6597	broad.mit.edu	37	19	11132513	11132513	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:11132513C>T	ENST00000429416.3	+	20	3010	c.2729C>T	c.(2728-2730)aCg>aTg	p.T910M	SMARCA4_ENST00000344626.4_Missense_Mutation_p.T910M|SMARCA4_ENST00000590574.1_Missense_Mutation_p.T910M|SMARCA4_ENST00000444061.3_Missense_Mutation_p.T910M|SMARCA4_ENST00000541122.2_Missense_Mutation_p.T910M|SMARCA4_ENST00000450717.3_Missense_Mutation_p.T910M|SMARCA4_ENST00000589677.1_Missense_Mutation_p.T910M|SMARCA4_ENST00000358026.2_Missense_Mutation_p.T910M|SMARCA4_ENST00000413806.3_Missense_Mutation_p.T910M	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	910	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.T910M(6)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTGCTGCTGACGGGCACACCG	0.592			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2		Rec	yes		19	19p13.2	6597	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""		E	7	Substitution - Missense(6)|Unknown(1)	central_nervous_system(6)|lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(2728-2730)aCg>aTg	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4						88.0	68.0	75.0					19																	11132513		2203	4300	6503	SO:0001583	missense	6597			chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11132513C>T	D26156	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616	ENSG00000127616	ENSG00000127616				11100	11100	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254	603254		SNF2L4		SNF2L4		8208605	8208605	Standard	Standard	NM_003072	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	uc010dxo.3	P51532	P51532	OTTHUMG00000169272	OTTHUMG00000169272	ENST00000429416.3:c.2729C>T	19.37:g.11132513C>T	ENSP00000395654:p.Thr910Met		SMARCA4_ENST00000541122.2_Missense_Mutation_p.T910M|SMARCA4_ENST00000344626.4_Missense_Mutation_p.T910M|SMARCA4_ENST00000413806.3_Missense_Mutation_p.T910M|SMARCA4_ENST00000444061.3_Missense_Mutation_p.T910M|SMARCA4_ENST00000450717.3_Missense_Mutation_p.T910M|SMARCA4_ENST00000590574.1_Missense_Mutation_p.T910M|SMARCA4_ENST00000429416.3_Missense_Mutation_p.T910M|SMARCA4_ENST00000589677.1_Missense_Mutation_p.T910M	p.T910M	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			19	3013	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	910	Helicase ATP-binding.	B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.2729C>T	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.061387	0.55432	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.97303	-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33	4.51	4.51	0.55191	4.51	4.51	0.55191	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.99115	0.9695	H	0.98507	4.25	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.998;0.998;0.998;0.996;0.994;1.0;0.998;0.998	D	0.98869	1.0765	10	0.87932	D	0	-34.7546	16.1519	0.81629	0.0:1.0:0.0:0.0	.	910;910;910;910;910;130;910;910	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	M	910;910;974;910;910;910;910;910	ENSP00000395654:T910M;ENSP00000350720:T910M;ENSP00000343896:T910M;ENSP00000445036:T910M;ENSP00000392837:T910M;ENSP00000397783:T910M;ENSP00000414727:T910M	ENSP00000343896:T910M	T	+	2	0	0	SMARCA4	10993513	10993513	1.000000	0.71417	0.968000	0.41197	0.009000	0.06853	7.651000	0.83577	2.348000	0.79779	0.655000	0.94253	ACG		0.592	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2		47.058297	2	2	40	40	NM_003072		14	48.022083	48.022083	5	0.736842	0	0	0	1	0	14	5	0.736842
ZNF503	84858	broad.mit.edu	37	10	77158605	77158605	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr10:77158605C>T	ENST00000372524.4	-	2	2329	c.1843G>A	c.(1843-1845)Gcc>Acc	p.A615T	ZNF503-AS2_ENST00000466942.2_RNA|ZNF503_ENST00000535216.1_Missense_Mutation_p.A615T|RP11-399K21.11_ENST00000418818.2_lincRNA	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	615					G1 to G0 transition involved in cell differentiation (GO:0070315)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|neural precursor cell proliferation (GO:0061351)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					GGCACGGGGGCGCCAGGCGTG	0.726																																						ENST00000372524.4											0			lung(4)|ovary(1)|skin(1)	6						c.(1843-1845)Gcc>Acc	zinc finger protein 503						8.0	10.0	10.0					10																	77158605		2175	4252	6427	SO:0001583	missense	84858			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr10:77158605C>T	AK127647	AK127647	CCDS7350.1	CCDS7350.1	10q22.3	2011-02-09			2011-02-09			ENSG00000165655	ENSG00000165655	ENSG00000165655	ENSG00000165655		"""Zinc fingers, C2H2-type"""	"""Zinc fingers, C2H2-type"""	23589	23589	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613902	613902						12477932	12477932	Standard	Standard	NM_032772	NM_032772		Approved	FLJ45745, MGC2555	uc001jxg.3	uc001jxg.3	Q96F45	Q96F45	OTTHUMG00000018526	OTTHUMG00000018526	ENST00000372524.4:c.1843G>A	10.37:g.77158605C>T	ENSP00000361602:p.Ala615Thr		ZNF503_ENST00000535216.1_Missense_Mutation_p.A615T|RP11-399K21.11_ENST00000418818.2_lincRNA	p.A615T	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN			2	2329	-	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)		615		Q8NAC5|Q96E25|Q96IJ0	Missense_Mutation	SNP	ENST00000372524.4	37	c.1843G>A	CCDS7350.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.862163	0.91511	.	.	ENSG00000165655	ENST00000372524;ENST00000535216;ENST00000372516	T;T	0.51071	0.72;0.72	4.6	4.6	0.57074	4.6	4.6	0.57074	.	0.057511	0.64402	D	0.000002	T	0.41465	0.1160	L	0.44542	1.39	0.80722	D	1	D	0.57899	0.981	B	0.40066	0.318	T	0.43605	-0.9381	10	0.40728	T	0.16	-12.78	17.6259	0.88093	0.0:1.0:0.0:0.0	.	615	Q96F45	ZN503_HUMAN	T	615;615;578	ENSP00000361602:A615T;ENSP00000438988:A615T	ENSP00000361594:A578T	A	-	1	0	0	ZNF503	76828611	76828611	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	4.779000	0.62375	2.376000	0.81061	0.643000	0.83706	GCC		0.726	ZNF503-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048826.1		10.100975	2	2	9	9	NM_032772		4	10.279114	10.279114	7	0.363636	0	0	0	1	0	4	7	0.363636
OBSCN	84033	broad.mit.edu	37	1	228505446	228505446	+	Missense_Mutation	SNP	C	C	T	rs528758181		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:228505446C>T	ENST00000422127.1	+	52	13887	c.13843C>T	c.(13843-13845)Cgg>Tgg	p.R4615W	OBSCN_ENST00000284548.11_Missense_Mutation_p.R4615W|OBSCN_ENST00000570156.2_Missense_Mutation_p.R5572W|OBSCN_ENST00000366709.4_Missense_Mutation_p.R1734W|OBSCN_ENST00000366707.4_Missense_Mutation_p.R2249W	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4615	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCAGACAGTGCGGCTTGGTGA	0.672													c|||	1	0.000199681	0.0	0.0	5008	,	,		16084	0.0		0.001	False		,,,				2504	0.0					ENST00000570156.2											0			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(16714-16716)Cgg>Tgg	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						47.0	54.0	51.0					1																	228505446		1980	4022	6002	SO:0001583	missense	84033			apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228505446C>T	AJ002535	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			2014-09-17			ENSG00000154358	ENSG00000154358	ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	15719	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608616	608616						11448995, 11814696	11448995, 11814696	Standard	Standard	NM_001098623	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	uc001hsq.2	Q5VST9	Q5VST9	OTTHUMG00000039772	OTTHUMG00000039772	ENST00000422127.1:c.13843C>T	1.37:g.228505446C>T	ENSP00000409493:p.Arg4615Trp		OBSCN_ENST00000422127.1_Missense_Mutation_p.R4615W|OBSCN_ENST00000366709.4_Missense_Mutation_p.R1734W|OBSCN_ENST00000366707.4_Missense_Mutation_p.R2249W|OBSCN_ENST00000284548.11_Missense_Mutation_p.R4615W	p.R5572W	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			63	16788	+		Prostate(94;0.0405)	4615		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.16714C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	c	14.63	2.592383	0.46214	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.60171	0.21;0.21;0.21;0.21	4.51	-2.93	0.05598	4.51	-2.93	0.05598	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.955998	0.08623	N	0.918149	T	0.51075	0.1653	N	0.22421	0.69	0.09310	N	0.99999	D;D	0.65815	0.991;0.995	B;P	0.50049	0.425;0.629	T	0.56050	-0.8043	10	0.66056	D	0.02	.	14.1853	0.65601	0.1629:0.7445:0.0:0.0926	.	4615;4615	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	W	4615;4615;2249;1734	ENSP00000284548:R4615W;ENSP00000409493:R4615W;ENSP00000355668:R2249W;ENSP00000355670:R1734W	ENSP00000284548:R4615W	R	+	1	2	2	OBSCN	226572069	226572069	0.922000	0.31269	0.001000	0.08648	0.163000	0.22366	0.812000	0.27211	-0.757000	0.04697	0.479000	0.44913	CGG		0.672	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding			74.495366	-25	-25	66	66	NM_052843		24	74.640133	74.640133	30	0.444444	0	0	0	1	0	24	30	0.444444
DEPDC5	9681	broad.mit.edu	37	22	32239098	32239098	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr22:32239098C>T	ENST00000382112.3	+	27	2576	c.2506C>T	c.(2506-2508)Cgc>Tgc	p.R836C	DEPDC5_ENST00000382111.2_Missense_Mutation_p.R845C|DEPDC5_ENST00000382105.2_Missense_Mutation_p.R767C|DEPDC5_ENST00000400248.2_Missense_Mutation_p.R836C|DEPDC5_ENST00000535622.1_Missense_Mutation_p.R767C|DEPDC5_ENST00000266091.3_Missense_Mutation_p.R845C|DEPDC5_ENST00000400249.2_Missense_Mutation_p.R836C|DEPDC5_ENST00000400246.1_Missense_Mutation_p.R845C	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	845					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GTCCCGAAACCGCCCTGAGGA	0.443																																						ENST00000400246.1											0			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(2533-2535)Cgc>Tgc	DEP domain containing 5						90.0	83.0	85.0					22																	32239098		1963	4156	6119	SO:0001583	missense	9681			intracellular signal transduction			g.chr22:32239098C>T	AB014545	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			2013-04-29			ENSG00000100150	ENSG00000100150	ENSG00000100150	ENSG00000100150				18423	18423	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614191	614191						23542697, 23542701	23542697, 23542701	Standard	Standard	NM_001242896	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	uc011alu.2	O75140	O75140	OTTHUMG00000030926	OTTHUMG00000030926	ENST00000382112.3:c.2506C>T	22.37:g.32239098C>T	ENSP00000371546:p.Arg836Cys		DEPDC5_ENST00000400248.2_Missense_Mutation_p.R836C|DEPDC5_ENST00000535622.1_Missense_Mutation_p.R767C|DEPDC5_ENST00000382111.2_Missense_Mutation_p.R845C|DEPDC5_ENST00000382105.2_Missense_Mutation_p.R767C|DEPDC5_ENST00000400249.2_Missense_Mutation_p.R836C|DEPDC5_ENST00000382112.3_Missense_Mutation_p.R836C|DEPDC5_ENST00000266091.3_Missense_Mutation_p.R845C	p.R845C			O75140	DEPD5_HUMAN			28	2675	+			836		A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	c.2533C>T	CCDS46692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.06|19.06	3.754560|3.754560	0.69648|0.69648	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000433147|ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	.|T;T;T;T;T;T;T;T	.|0.22945	.|1.93;1.93;1.93;1.93;1.93;1.93;1.93;1.93	5.68|5.68	4.64|4.64	0.57946|0.57946	5.68|5.68	4.64|4.64	0.57946|0.57946	.|.	.|0.060343	.|0.64402	.|D	.|0.000002	T|T	0.42988|0.42988	0.1227|0.1227	L|L	0.53249|0.53249	1.67|1.67	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;0.999;0.999	.|D;P;P;P;P;P	.|0.79108	.|0.992;0.891;0.891;0.897;0.719;0.791	T|T	0.28522|0.28522	-1.0041|-1.0041	5|10	.|0.54805	.|T	.|0.06	.|.	10.0209|10.0209	0.42041|0.42041	0.2636:0.6052:0.1312:0.0|0.2636:0.6052:0.1312:0.0	.|.	.|166;845;767;845;836;836	.|B4DSS1;B9EGN9;B4DH93;O75140-4;A8MPX9;O75140	.|.;.;.;.;.;DEPD5_HUMAN	L|C	242|767;845;836;767;845;767;836;845;836	.|ENSP00000440210:R767C;ENSP00000266091:R845C;ENSP00000383108:R836C;ENSP00000383105:R845C;ENSP00000371539:R767C;ENSP00000371546:R836C;ENSP00000371545:R845C;ENSP00000383107:R836C	.|ENSP00000266091:R845C	P|R	+|+	2|1	0|0	0|0	DEPDC5|DEPDC5	30569098|30569098	30569098|30569098	0.989000|0.989000	0.36119|0.36119	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	2.022000|2.022000	0.41030|0.41030	1.366000|1.366000	0.46076|0.46076	0.655000|0.655000	0.94253|0.94253	CCG|CGC		0.443	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1		10.518738	7	7	60	60	NM_014662		6	16.389938	16.389938	39	0.133333	0	0	0	1	0	6	39	0.133333
RGAG4	340526	broad.mit.edu	37	X	71349781	71349781	+	Missense_Mutation	SNP	C	C	T	rs373524278		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:71349781C>T	ENST00000545866.1	-	1	1977	c.1610G>A	c.(1609-1611)cGt>cAt	p.R537H	RGAG4_ENST00000609883.1_Missense_Mutation_p.R537H|NHSL2_ENST00000540800.1_Intron	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	537										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					TTGTCCTAAACGACCTGTGCG	0.587																																						ENST00000545866.1											0			cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24						c.(1609-1611)cGt>cAt	retrotransposon gag domain containing 4	C	,HIS/ARG	4,3308		0,4,1367,570	46.0	49.0	48.0		,1610	3.2	0.3	X		48	0,6455		0,0,2335,1785	no	intron,missense	RGAG4,NHSL2	NM_001013627.2,NM_001024455.3	,29	0,4,3702,2355	TT,TC,CC,C		0.0,0.1208,0.041	,probably-damaging	,537/570	71349781	4,9763	1941	4120	6061	SO:0001583	missense	340526						g.chrX:71349781C>T	AB082532	AB082532	CCDS55446.1	CCDS55446.1	Xq13.1	2008-02-05			2008-02-05			ENSG00000242732	ENSG00000242732	ENSG00000242732	ENSG00000242732				29430	29430	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12056414, 15716091, 16093683	12056414, 15716091, 16093683	Standard	Standard	NM_001024455	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	uc004eaj.2	Q5HYW3	Q5HYW3	OTTHUMG00000021808	OTTHUMG00000021808	ENST00000545866.1:c.1610G>A	X.37:g.71349781C>T	ENSP00000441366:p.Arg537His		RGAG4_ENST00000609883.1_Missense_Mutation_p.R537H|NHSL2_ENST00000540800.1_Intron	p.R537H	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN			1	1977	-	Renal(35;0.156)		537		A7E2W7|Q8NCM4|Q9NPX1	Missense_Mutation	SNP	ENST00000545866.1	37	c.1610G>A	CCDS55446.1	.	.	.	.	.	.	.	.	.	.	C	8.948	0.967446	0.18659	0.001208	0.0	ENSG00000242732	ENST00000545866;ENST00000479991	T;T	0.17213	2.29;2.29	4.11	3.25	0.37280	4.11	3.25	0.37280	.	.	.	.	.	T	0.08179	0.0204	N	0.19112	0.55	0.09310	N	0.999999	P	0.47106	0.89	B	0.33568	0.166	T	0.18335	-1.0340	8	.	.	.	-4.5822	6.6381	0.22895	0.0:0.8701:0.0:0.1299	.	537	Q5HYW3	RGAG4_HUMAN	H	537	ENSP00000441366:R537H;ENSP00000418667:R537H	.	R	-	2	0	0	RGAG4	71266506	71266506	0.874000	0.30092	0.303000	0.25071	0.041000	0.13682	0.315000	0.19451	1.085000	0.41206	0.513000	0.50165	CGT		0.587	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1		4.978184	-9	-9	34	34	NM_001024455		4	9.133811	9.133811	27	0.129032	0	0	0	1	0	4	27	0.129032
NCR3	259197	broad.mit.edu	37	6	31557652	31557652	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:31557652G>A	ENST00000340027.5	-	2	558	c.295C>T	c.(295-297)Cga>Tga	p.R99*	NCR3_ENST00000491161.1_5'UTR|NCR3_ENST00000376072.3_Nonsense_Mutation_p.R99*|NCR3_ENST00000376073.4_Nonsense_Mutation_p.R99*|NCR3_ENST00000376071.4_Nonsense_Mutation_p.R74*	NM_147130.2	NP_667341.1	O14931	NCTR3_HUMAN	natural cytotoxicity triggering receptor 3	99	Ig-like.				cell recognition (GO:0008037)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)	integral component of plasma membrane (GO:0005887)				cervix(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)	9						TCATGGCCTCGCACGTCCCGG	0.622																																						ENST00000376073.4											0			cervix(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)	9						c.(295-297)Cga>Tga	natural cytotoxicity triggering receptor 3						139.0	128.0	132.0					6																	31557652		1511	2709	4220	SO:0001587	stop_gained	259197			cell recognition|immune response|inflammatory response|positive regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane	receptor activity	g.chr6:31557652G>A	AB055881	AB055881	CCDS34397.1, CCDS47401.1, CCDS47402.1	CCDS34397.1, CCDS47401.1, CCDS47402.1	6p21.3	2013-01-11	2002-11-13	2002-11-15	2013-01-11	2002-11-13	2002-11-15	ENSG00000204475	ENSG00000204475	ENSG00000204475	ENSG00000204475		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	19077	19077	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611550	611550	"""lymphocyte antigen 117"""	LY117	"""lymphocyte antigen 117"""	LY117		8824804, 11782277	8824804, 11782277	Standard	Standard	NM_001145466	NM_001145466		Approved	1C7, NKp30, CD337	uc003nuv.2	uc003nuv.2	O14931	O14931	OTTHUMG00000031123	OTTHUMG00000031123	ENST00000340027.5:c.295C>T	6.37:g.31557652G>A	ENSP00000342156:p.Arg99*		NCR3_ENST00000376072.3_Nonsense_Mutation_p.R99*|NCR3_ENST00000376071.4_Nonsense_Mutation_p.R74*|NCR3_ENST00000340027.5_Nonsense_Mutation_p.R99*|NCR3_ENST00000491161.1_5'UTR	p.R99*	NM_001145466.1	NP_001138938.1	O14931	NCTR3_HUMAN			2	558	-			99	Ig-like.	B0S8F2|B0S8F4|B0S8F5|O14930|O14932|O95667|O95668|O95669|Q5ST89|Q5ST90|Q5ST91|Q5ST92|Q5STA3	Nonsense_Mutation	SNP	ENST00000340027.5	37	c.295C>T	CCDS34397.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.628979	0.67015	.	.	ENSG00000204475	ENST00000340027;ENST00000376073;ENST00000376072;ENST00000376071	.	.	.	4.01	0.804	0.18697	4.01	0.804	0.18697	.	1.405150	0.04900	N	0.451210	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	8.3211	2.3291	0.04231	0.112:0.1902:0.5027:0.1951	.	.	.	.	X	99;99;99;74	.	ENSP00000342156:R99X	R	-	1	2	2	NCR3	31665631	31665631	0.000000	0.05858	0.000000	0.03702	0.265000	0.26407	-0.031000	0.12287	0.403000	0.25479	0.585000	0.79938	CGA		0.622	NCR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076210.2		106.346677	-11	-11	99	99			34	106.374175	106.374175	37	0.478873	0	0	0	1	0	34	37	0.478873
MAP3K5	4217	broad.mit.edu	37	6	136888863	136888863	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:136888863C>T	ENST00000359015.4	-	26	4027	c.3667G>A	c.(3667-3669)Gtg>Atg	p.V1223M	MAP3K5_ENST00000355845.4_Missense_Mutation_p.V470M	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1223					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		AGCGTGCTCACGCCTGAGGTA	0.468																																						ENST00000359015.4											0			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58						c.(3667-3669)Gtg>Atg	mitogen-activated protein kinase kinase kinase 5						138.0	105.0	116.0					6																	136888863		2203	4300	6503	SO:0001583	missense	4217			activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	g.chr6:136888863C>T	U67156	U67156	CCDS5179.1	CCDS5179.1	6q22.33	2011-06-09			2011-06-09			ENSG00000197442	ENSG00000197442	ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	6857	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	"""apoptosis signal regulating kinase 1"""	602448	602448		MEKK5		MEKK5		9465908	9465908	Standard	Standard	NM_005923	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	uc003qhc.3	Q99683	Q99683	OTTHUMG00000015647	OTTHUMG00000015647	ENST00000359015.4:c.3667G>A	6.37:g.136888863C>T	ENSP00000351908:p.Val1223Met		MAP3K5_ENST00000355845.4_Missense_Mutation_p.V470M	p.V1223M	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN		GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)	26	4027	-	Colorectal(23;0.24)		1223		A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	ENST00000359015.4	37	c.3667G>A	CCDS5179.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.333670	0.81801	.	.	ENSG00000197442	ENST00000359015;ENST00000355845	T;T	0.73363	-0.58;-0.74	5.39	5.39	0.77823	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.82291	0.5005	M	0.68952	2.095	0.58432	D	0.999999	D;D	0.89917	0.996;1.0	P;D	0.80764	0.818;0.994	T	0.79841	-0.1633	10	0.35671	T	0.21	.	19.1483	0.93477	0.0:1.0:0.0:0.0	.	1304;1223	Q59GL6;Q99683	.;M3K5_HUMAN	M	1223;470	ENSP00000351908:V1223M;ENSP00000348104:V470M	ENSP00000348104:V470M	V	-	1	0	0	MAP3K5	136930556	136930556	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.263000	0.78421	2.513000	0.84729	0.561000	0.74099	GTG		0.468	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1		8.154027	-3	-3	40	40			5	11.765302	11.765302	27	0.156250	0	0	0	1	0	5	27	0.15625
UTRN	7402	broad.mit.edu	37	6	144814587	144814587	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:144814587G>A	ENST00000367545.3	+	32	4588	c.4588G>A	c.(4588-4590)Gca>Aca	p.A1530T		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1530	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TGACCTGGGCGCACAGGTGAG	0.468																																						ENST00000367545.3											0			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(4588-4590)Gca>Aca	utrophin						72.0	62.0	65.0					6																	144814587		2203	4300	6503	SO:0001583	missense	7402			muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144814587G>A	AK023675	AK023675	CCDS34547.1	CCDS34547.1	6q24	2008-02-05	2006-12-13		2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818	ENSG00000152818	ENSG00000152818				12635	12635	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			128240	128240	"""utrophin (homologous to dystrophin)"""	DMDL	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	1426262	Standard	Standard	NM_007124	NM_007124		Approved	DRP, DRP1	uc003qkt.3	uc003qkt.3	P46939	P46939	OTTHUMG00000015746	OTTHUMG00000015746	ENST00000367545.3:c.4588G>A	6.37:g.144814587G>A	ENSP00000356515:p.Ala1530Thr			p.A1530T	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	32	4588	+		Ovarian(120;0.218)	1530	Interaction with SYNM.	Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.4588G>A	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617554	0.87359	.	.	ENSG00000152818	ENST00000367545	T	0.35421	1.31	5.32	5.32	0.75619	5.32	5.32	0.75619	.	0.000000	0.52532	D	0.000080	T	0.49932	0.1586	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.32955	-0.9887	10	0.29301	T	0.29	.	19.0104	0.92871	0.0:0.0:1.0:0.0	.	1530	P46939	UTRO_HUMAN	T	1530	ENSP00000356515:A1530T	ENSP00000356515:A1530T	A	+	1	0	0	UTRN	144856280	144856280	1.000000	0.71417	0.937000	0.37676	0.740000	0.42216	6.605000	0.74155	2.487000	0.83934	0.655000	0.94253	GCA		0.468	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1		60.922463	-2	-2	43	43			19	61.712194	61.712194	9	0.678571	0	0	0	1	0	19	9	0.678571
IGHV3-16	28447	broad.mit.edu	37	14	106622014	106622014	+	RNA	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr14:106622014C>T	ENST00000390604.2	-	0	304									immunoglobulin heavy variable 3-16 (non-functional)																		CCACATAGTGCGTCCTACTGC	0.537																																						ENST00000390604.2											0																	190.0	171.0	177.0					14																	106622014		1934	4141	6075			0						g.chr14:106622014C>T	M99655	M99655			14q32.33	2012-02-08	2008-08-22		2012-02-08	2008-08-22		ENSG00000211944	ENSG00000211944	ENSG00000211944	ENSG00000211944		"""Immunoglobulins / IGH locus"""	"""Immunoglobulins / IGH locus"""	5583	5583	other	immunoglobulin gene	other	immunoglobulin gene					"""immunoglobulin heavy variable 3-16"""		"""immunoglobulin heavy variable 3-16"""					Standard	Standard	NG_001019	NG_001019		Approved						OTTHUMG00000152273	OTTHUMG00000152273		14.37:g.106622014C>T											0	304	-						RNA	SNP	ENST00000390604.2	37																																																																																											0.537	IGHV3-16-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325661.1		221.001851	-147	-147	106	106	NG_001019		63	227.835675	227.835675	3	0.954545	0	0	0	1	0	63	3	0.954545
CSMD1	64478	broad.mit.edu	37	8	3263583	3263583	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr8:3263583G>A	ENST00000520002.1	-	16	2790	c.2235C>T	c.(2233-2235)aaC>aaT	p.N745N	CSMD1_ENST00000542608.1_Silent_p.N744N|CSMD1_ENST00000602557.1_Silent_p.N745N|CSMD1_ENST00000539096.1_Silent_p.N744N|CSMD1_ENST00000537824.1_Silent_p.N744N|CSMD1_ENST00000602723.1_Silent_p.N745N|CSMD1_ENST00000400186.3_Silent_p.N745N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	745	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCCAGACCACGTTCCCGTCTT	0.552																																						ENST00000602557.1											0			breast(20)|large_intestine(5)	25						c.(2233-2235)aaC>aaT	CUB and Sushi multiple domains 1						60.0	61.0	60.0					8																	3263583		1982	4173	6155	SO:0001819	synonymous_variant	64478				integral to membrane		g.chr8:3263583G>A					8p23.2	2012-04-17			2012-04-17			ENSG00000183117	ENSG00000183117	ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	14026	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	"""protein phosphatase 1, regulatory subunit 24"""	608397	608397								Standard	Standard	NM_033225	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	uc022aqr.1	Q96PZ7	Q96PZ7	OTTHUMG00000163605	OTTHUMG00000163605	ENST00000520002.1:c.2235C>T	8.37:g.3263583G>A			CSMD1_ENST00000400186.3_Silent_p.N745N|CSMD1_ENST00000539096.1_Silent_p.N744N|CSMD1_ENST00000602723.1_Silent_p.N745N|CSMD1_ENST00000542608.1_Silent_p.N744N|CSMD1_ENST00000520002.1_Silent_p.N745N|CSMD1_ENST00000537824.1_Silent_p.N744N	p.N745N			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	16	2790	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	745	Sushi 4.	Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.2235C>T		.	.	.	.	.	.	.	.	.	.	G	9.151	1.016301	0.19355	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.36	-7.22	0.01485	5.36	-7.22	0.01485	.	.	.	.	.	T	0.62368	0.2422	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66575	-0.5889	4	.	.	.	.	15.6057	0.76668	0.4359:0.0:0.5641:0.0	.	.	.	.	C	225	.	.	R	-	1	0	0	CSMD1	3250990	3250990	0.006000	0.16342	0.763000	0.31416	0.837000	0.47467	-0.625000	0.05534	-1.745000	0.01337	-0.469000	0.05056	CGT		0.552	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2		35.992317	-6	-6	59	59	NM_033225		12	36.431209	36.431209	20	0.375000	0	0	0	1	0	12	20	0.375
DOCK10	55619	broad.mit.edu	37	2	225688296	225688296	+	Silent	SNP	G	G	A	rs369199175		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:225688296G>A	ENST00000258390.7	-	28	3172	c.3105C>T	c.(3103-3105)tcC>tcT	p.S1035S	DOCK10_ENST00000409592.3_Silent_p.S1029S	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1035					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S1033S(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TCACATGGTCGGATAGGACCA	0.418																																						ENST00000409592.3											1	Substitution - coding silent(1)	kidney(1)	NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(3085-3087)tcC>tcT	dedicator of cytokinesis 10	G		1,3791		0,1,1895	146.0	137.0	140.0		3105	-11.8	0.0	2		140	0,8238		0,0,4119	no	coding-synonymous	DOCK10	NM_014689.2		0,1,6014	AA,AG,GG		0.0,0.0264,0.0083		1035/2187	225688296	1,12029	1896	4119	6015	SO:0001819	synonymous_variant	55619					GTP binding	g.chr2:225688296G>A	AB014594	AB014594	CCDS46528.1, CCDS74661.1	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			2013-01-10			ENSG00000135905	ENSG00000135905	ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	"""Pleckstrin homology (PH) domain containing"""	23479	23479	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""zizimin3"""	"""zizimin3"""	611518	611518						12432077	12432077	Standard	Standard	NM_014689	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	uc010fwz.1	Q96BY6	Q96BY6	OTTHUMG00000153428	OTTHUMG00000153428	ENST00000258390.7:c.3105C>T	2.37:g.225688296G>A			DOCK10_ENST00000258390.7_Silent_p.S1035S	p.S1029S			Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	28	3200	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1035		B3FL70|O75178|Q9NW06|Q9NXI8	Silent	SNP	ENST00000258390.7	37	c.3087C>T	CCDS46528.1																																																																																									0.418	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1		18.679073	-20	-20	42	42			8	21.823872	21.823872	31	0.205128	0	0	0	1	0	8	31	0.205128
C11orf57	55216	broad.mit.edu	37	11	111953260	111953260	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:111953260G>A	ENST00000280352.9	+	6	1079	c.443G>A	c.(442-444)cGc>cAc	p.R148H	TIMM8B_ENST00000507614.1_5'Flank|C11orf57_ENST00000393047.3_Missense_Mutation_p.R149H|C11orf57_ENST00000420986.2_Missense_Mutation_p.R148H|C11orf57_ENST00000532163.1_Missense_Mutation_p.R120H	NM_001082970.1|NM_018195.3	NP_001076439.1|NP_060665.3	Q6ZUT1	CK057_HUMAN	chromosome 11 open reading frame 57	148	Lys-rich.									autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)		CATGAATCCCGCAAACACAAG	0.358																																						ENST00000532163.1											0			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12						c.(358-360)cGc>cAc	chromosome 11 open reading frame 57						55.0	60.0	58.0					11																	111953260		2201	4297	6498	SO:0001583	missense	55216						g.chr11:111953260G>A	BX538107	BX538107	CCDS8356.2, CCDS41715.1, CCDS73383.1	CCDS8356.2, CCDS41715.1, CCDS73383.1	11q23.1	2006-03-09			2006-03-09			ENSG00000150776	ENSG00000150776	ENSG00000150776	ENSG00000150776				25569	25569	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12477932	12477932	Standard	Standard	NM_001082970	NM_001082970		Approved	FLJ10726	uc001pmw.4	uc001pmw.4	Q6ZUT1	Q6ZUT1	OTTHUMG00000150213	OTTHUMG00000150213	ENST00000280352.9:c.443G>A	11.37:g.111953260G>A	ENSP00000339076:p.Arg148His		C11orf57_ENST00000393047.3_Missense_Mutation_p.R149H|C11orf57_ENST00000420986.2_Missense_Mutation_p.R148H|C11orf57_ENST00000280352.9_Missense_Mutation_p.R148H	p.R120H			Q6ZUT1	CK057_HUMAN		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)	6	1125	+		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	148		Q5RL41|Q6IN53|Q7Z357|Q8N2T3	Missense_Mutation	SNP	ENST00000280352.9	37	c.359G>A	CCDS41715.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.597|8.597	0.886036|0.886036	0.17540|0.17540	.|.	.|.	ENSG00000150776|ENSG00000150776	ENST00000393048|ENST00000420986;ENST00000532163;ENST00000280352;ENST00000393047;ENST00000525785;ENST00000531378	.|.	.|.	.|.	5.06|5.06	-1.16|-1.16	0.09678|0.09678	5.06|5.06	-1.16|-1.16	0.09678|0.09678	.|.	.|0.705657	.|0.13890	.|N	.|0.355685	T|T	0.15003|0.15003	0.0362|0.0362	N|N	0.08118|0.08118	0|0	0.23003|0.23003	N|N	0.998448|0.998448	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.30909|0.30909	-0.9962|-0.9962	6|9	0.87932|0.14252	D|T	0|0.57	0.7805|0.7805	8.1671|8.1671	0.31233|0.31233	0.6366:0.1092:0.2543:0.0|0.6366:0.1092:0.2543:0.0	.|.	.|149;148	.|Q6ZUT1-2;Q6ZUT1	.|.;CK057_HUMAN	T|H	4|148;120;148;149;120;103	.|.	ENSP00000376768:A4T|ENSP00000339076:R148H	A|R	+|+	1|2	0|0	0|0	C11orf57|C11orf57	111458470|111458470	111458470|111458470	0.905000|0.905000	0.30787|0.30787	0.928000|0.928000	0.36995|0.36995	0.885000|0.885000	0.51271|0.51271	0.229000|0.229000	0.17833|0.17833	-0.576000|-0.576000	0.05974|0.05974	-1.814000|-1.814000	0.00607|0.00607	GCA|CGC		0.358	C11orf57-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316852.1		-2.914035	-7	-7	64	64	NM_018195		3	6.660295	6.660295	45	0.062500	0	0	0	1	0	3	45	0.0625
AKR7L	246181	broad.mit.edu	37	1	19596161	19596161	+	RNA	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:19596161C>T	ENST00000429712.1	-	0	639				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like							extracellular vesicular exosome (GO:0070062)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						CGGGTGGTGGCGCTGTACATG	0.552																																						ENST00000420396.2											0			breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6							aldo-keto reductase family 7-like						80.0	80.0	80.0					1																	19596161		692	1591	2283			246181						g.chr1:19596161C>T					1p36.1-p35	2008-12-09			2008-12-09			ENSG00000211454	ENSG00000211454	ENSG00000211454	ENSG00000211454				24056	24056	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608478	608478						12879023	12879023	Standard	Standard	NR_040288	NR_040288		Approved	AFAR3	uc021ohn.1	uc021ohn.1	Q8NHP1	Q8NHP1	OTTHUMG00000002520	OTTHUMG00000002520		1.37:g.19596161C>T			AKR7L_ENST00000429712.1_RNA								0	507	-					Q5U614	RNA	SNP	ENST00000429712.1	37			.	.	.	.	.	.	.	.	.	.	C	16.18	3.049958	0.55218	.	.	ENSG00000211454	ENST00000429712;ENST00000388886	.	.	.	3.67	2.74	0.32292	3.67	2.74	0.32292	NADP-dependent oxidoreductase domain (3);	0.000000	0.85682	D	0.000000	T	0.74596	0.3737	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.73528	-0.3954	8	0.41790	T	0.15	.	10.4637	0.44594	0.0:0.8992:0.0:0.1008	.	174	Q8NHP1	ARK74_HUMAN	T	174;139	.	ENSP00000373538:A139T	A	-	1	0	0	AKR7L	19468748	19468748	1.000000	0.71417	0.979000	0.43373	0.151000	0.21798	4.329000	0.59260	0.870000	0.35726	0.305000	0.20034	GCC		0.552	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3		47.265975	19	19	43	43	NM_201252		14	48.565961	48.565961	4	0.777778	0	0	0	1	0	14	4	0.777778
POLD1	5424	broad.mit.edu	37	19	50917082	50917082	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:50917082C>T	ENST00000440232.2	+	19	2387	c.2334C>T	c.(2332-2334)gcC>gcT	p.A778A	POLD1_ENST00000595904.1_Silent_p.A804A|POLD1_ENST00000599857.1_Silent_p.A778A|CTD-2545M3.6_ENST00000599632.1_5'Flank	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	778					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GGCGGGAGGCCGCGGACTGGG	0.657								DNA polymerases (catalytic subunits)																														ENST00000440232.2											0			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2332-2334)gcC>gcT	polymerase (DNA directed), delta 1, catalytic subunit						60.0	59.0	60.0					19																	50917082		2203	4300	6503	SO:0001819	synonymous_variant	5424			base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	g.chr19:50917082C>T			CCDS12795.1	CCDS12795.1	19q13.3	2014-09-17	2012-05-18		2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822	ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	"""DNA polymerases"""	9175	9175	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	"""CDC2 homolog (S. cerevisiae)"""	174761	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	1722322	Standard	Standard	NM_001256849	NM_001256849		Approved	CDC2	uc002psc.5	uc002psc.5	P28340	P28340			ENST00000440232.2:c.2334C>T	19.37:g.50917082C>T			POLD1_ENST00000595904.1_Silent_p.A804A|POLD1_ENST00000599857.1_Silent_p.A778A	p.A778A	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)	19	2387	+		all_neural(266;0.0571)	778		Q8NER3|Q96H98	Silent	SNP	ENST00000440232.2	37	c.2334C>T	CCDS12795.1																																																																																									0.657	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1		20.546184	-2	-2	62	62			9	23.148021	23.148021	30	0.230769	0	0	0	1	0	9	30	0.230769
ITGAX	3687	broad.mit.edu	37	16	31374553	31374553	+	Missense_Mutation	SNP	C	C	T	rs200458998		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:31374553C>T	ENST00000268296.4	+	14	1689	c.1568C>T	c.(1567-1569)gCg>gTg	p.A523V	ITGAX_ENST00000562522.1_Missense_Mutation_p.A523V	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	523					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CGCTTTGGGGCGGCTCTGACA	0.617																																						ENST00000268296.4											0			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						c.(1567-1569)gCg>gTg	integrin, alpha X (complement component 3 receptor 4 subunit)						108.0	117.0	114.0					16																	31374553		2197	4300	6497	SO:0001583	missense	3687			blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31374553C>T	BC038237	BC038237	CCDS10711.1, CCDS67014.1	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678	ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	"""CD molecules"", ""Complement system"", ""Integrins"""	6152	6152	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			151510	151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	3284962, 2303426	Standard	Standard	NM_001286375	NM_001286375		Approved	CD11c	uc002ebu.1	uc002ebu.1	P20702	P20702	OTTHUMG00000132465	OTTHUMG00000132465	ENST00000268296.4:c.1568C>T	16.37:g.31374553C>T	ENSP00000268296:p.Ala523Val		ITGAX_ENST00000562522.1_Missense_Mutation_p.A523V	p.A523V	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN			14	1689	+			523		Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	c.1568C>T	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345086	0.82022	.	.	ENSG00000140678	ENST00000268296	T	0.24538	1.85	4.03	4.03	0.46877	4.03	4.03	0.46877	.	.	.	.	.	T	0.33440	0.0863	M	0.78049	2.395	0.37132	D	0.901292	D	0.71674	0.998	B	0.43331	0.416	T	0.54430	-0.8295	9	0.66056	D	0.02	.	13.447	0.61146	0.0:1.0:0.0:0.0	.	523	P20702	ITAX_HUMAN	V	523	ENSP00000268296:A523V	ENSP00000268296:A523V	A	+	2	0	0	ITGAX	31282054	31282054	0.869000	0.29996	0.996000	0.52242	0.944000	0.59088	1.939000	0.40213	1.952000	0.56665	0.460000	0.39030	GCG		0.617	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2		55.818695	-43	-43	110	110	NM_000887		22	59.464464	59.464464	58	0.275000	0	0	0	1	0	22	58	0.275
FUT9	10690	broad.mit.edu	37	6	96651363	96651363	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:96651363G>A	ENST00000302103.5	+	3	658	c.332G>A	c.(331-333)cGa>cAa	p.R111Q		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	111					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		ATCCATCACCGAGACATCAGT	0.468																																					Melanoma(98;1369 1476 6592 22940 26587)	ENST00000302103.5											0			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34						c.(331-333)cGa>cAa	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)						125.0	109.0	115.0					6																	96651363		2203	4300	6503	SO:0001583	missense	10690			L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr6:96651363G>A	AB023021	AB023021	CCDS5033.1	CCDS5033.1	6q16	2013-02-26			2013-02-26			ENSG00000172461	ENSG00000172461	ENSG00000172461	ENSG00000172461		"""Fucosyltransferases"""	"""Fucosyltransferases"""	4020	4020	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606865	606865						10386598, 10575236	10386598, 10575236	Standard	Standard	NM_006581	NM_006581		Approved	Fuc-TIX	uc003pop.4	uc003pop.4	Q9Y231	Q9Y231	OTTHUMG00000015236	OTTHUMG00000015236	ENST00000302103.5:c.332G>A	6.37:g.96651363G>A	ENSP00000302599:p.Arg111Gln			p.R111Q	NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.08)	3	658	+		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)	111		Q5T0W4	Missense_Mutation	SNP	ENST00000302103.5	37	c.332G>A	CCDS5033.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.525396	0.85600	.	.	ENSG00000172461	ENST00000302103	T	0.25579	1.79	5.3	5.3	0.74995	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.48352	0.1495	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.46952	-0.9154	10	0.44086	T	0.13	-7.5419	18.3049	0.90177	0.0:0.0:1.0:0.0	.	111	Q9Y231	FUT9_HUMAN	Q	111	ENSP00000302599:R111Q	ENSP00000302599:R111Q	R	+	2	0	0	FUT9	96758084	96758084	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.420000	0.97426	2.643000	0.89663	0.655000	0.94253	CGA		0.468	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041554.2		29.308262	-4	-4	59	59	NM_006581		11	30.972955	30.972955	28	0.282051	0	0	0	1	0	11	28	0.282051
ROR2	4920	hgsc.bcm.edu	37	9	94495610	94495610	+	Missense_Mutation	SNP	C	C	T	rs55737262	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:94495610C>T	ENST00000375708.3	-	6	929	c.731G>A	c.(730-732)cGg>cAg	p.R244Q	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.R104Q	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	244	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.		R -> Q (in dbSNP:rs55737262). {ECO:0000269|PubMed:17344846}.		cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CTTGGGTGTCCGGGAGCGCGC	0.647													C|||	3	0.000599042	0.0	0.0	5008	,	,		11566	0.0		0.0	False		,,,				2504	0.0031																0																	41.0	39.0	39.0					9																	94495610		2203	4300	6503	SO:0001583	missense	4920							M97639	M97639	CCDS6691.1	CCDS6691.1	9q22	2013-01-11			2013-01-11			ENSG00000169071	ENSG00000169071	ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	"""Immunoglobulin superfamily / I-set domain containing"""	10257	10257	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602337	602337		NTRKR2, BDB, BDB1		NTRKR2, BDB, BDB1		1334494, 10700182	1334494, 10700182	Standard	Standard	NM_004560	NM_004560		Approved		uc004arj.2	uc004arj.2	Q01974	Q01974	OTTHUMG00000020211	OTTHUMG00000020211	ENST00000375708.3:c.731G>A	9.37:g.94495610C>T	ENSP00000364860:p.Arg244Gln																	Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37		CCDS6691.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.851177	0.32699	.	.	ENSG00000169071	ENST00000375715;ENST00000375708	T;T	0.75821	0.6;-0.97	4.44	4.44	0.53790	4.44	4.44	0.53790	Frizzled domain (2);Kringle (1);	0.000000	0.38164	N	0.001794	T	0.61664	0.2365	L	0.46157	1.445	0.50467	D	0.99987	B;B;B	0.29115	0.112;0.233;0.112	B;B;B	0.18561	0.015;0.02;0.022	T	0.56786	-0.7921	10	0.13108	T	0.6	.	10.8451	0.46739	0.0:0.9142:0.0:0.0858	rs55737262	244;244;104	A1L4F5;Q01974;B1APY4	.;ROR2_HUMAN;.	Q	104;244	ENSP00000364867:R104Q;ENSP00000364860:R244Q	ENSP00000364860:R244Q	R	-	2	0	0	ROR2	93535431	93535431	0.129000	0.22400	1.000000	0.80357	0.900000	0.52787	3.497000	0.53295	2.306000	0.77630	0.561000	0.74099	CGG		0.647	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			-9	-9	19	19			4			14							4	14	
GREB1	9687	broad.mit.edu	37	2	11774455	11774455	+	Silent	SNP	C	C	T	rs368127534		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:11774455C>T	ENST00000381486.2	+	29	5490	c.5190C>T	c.(5188-5190)aaC>aaT	p.N1730N	GREB1_ENST00000234142.5_Silent_p.N1730N|GREB1_ENST00000396123.1_Silent_p.N728N	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1730						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TGACCCAGAACGTGCAGTACA	0.657																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2											0			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(5188-5190)aaC>aaT	growth regulation by estrogen in breast cancer 1						35.0	37.0	36.0					2																	11774455		2100	4232	6332	SO:0001819	synonymous_variant	9687				integral to membrane		g.chr2:11774455C>T			CCDS33146.1, CCDS33147.1, CCDS42655.1	CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208	ENSG00000196208	ENSG00000196208				24885	24885	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	"""gene regulated by estrogen in breast cancer"""	611736	611736						11103799	11103799	Standard	Standard	NM_014668	NM_014668		Approved	KIAA0575	uc002rbk.1	uc002rbk.1	Q4ZG55	Q4ZG55	OTTHUMG00000141276	OTTHUMG00000141276	ENST00000381486.2:c.5190C>T	2.37:g.11774455C>T			GREB1_ENST00000234142.5_Silent_p.N1730N|GREB1_ENST00000396123.1_Silent_p.N728N	p.N1730N	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	29	5490	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1730		A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	ENST00000381486.2	37	c.5190C>T	CCDS42655.1																																																																																									0.657	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1		12.598478	-4	-4	30	30	NM_014668		4	12.685791	12.685791	6	0.400000	0	0	0	1	0	4	6	0.4
ATF6B	1388	broad.mit.edu	37	6	32084485	32084485	+	Missense_Mutation	SNP	C	C	T	rs148987710		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:32084485C>T	ENST00000375203.3	-	16	1825	c.1793G>A	c.(1792-1794)cGa>cAa	p.R598Q	ATF6B_ENST00000375201.4_Missense_Mutation_p.R595Q	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	598					response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						ACTCACCCTTCGGAAAGAGAC	0.552																																						ENST00000375201.4											0			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						c.(1783-1785)cGa>cAa	activating transcription factor 6 beta	C	GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	81.0	77.0	79.0		1784,1793	5.2	1.0	6	dbSNP_134	79	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	ATF6B	NM_001136153.1,NM_004381.4	43,43	0,4,6499	TT,TC,CC		0.0233,0.0454,0.0308	probably-damaging,probably-damaging	595/701,598/704	32084485	4,13002	2203	4300	6503	SO:0001583	missense	1388			response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:32084485C>T			CCDS47408.1, CCDS4737.1	CCDS47408.1, CCDS4737.1	6p21.3	2013-01-10	2008-10-21	2008-10-21	2013-01-10	2008-10-21	2008-10-21	ENSG00000213676	ENSG00000213676	ENSG00000213676	ENSG00000213676		"""basic leucine zipper proteins"""	"""basic leucine zipper proteins"""	2349	2349	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600984	600984	"""cAMP responsive element binding protein-like 1"""	CREBL1	"""cAMP responsive element binding protein-like 1"""	CREBL1		11256944, 14973138	11256944, 14973138	Standard	Standard	NM_004381	NM_004381		Approved	G13	uc003nzn.3	uc003nzn.3	Q99941	Q99941	OTTHUMG00000031296	OTTHUMG00000031296	ENST00000375203.3:c.1793G>A	6.37:g.32084485C>T	ENSP00000364349:p.Arg598Gln		ATF6B_ENST00000375203.3_Missense_Mutation_p.R598Q	p.R595Q			Q99941	ATF6B_HUMAN			16	1829	-			598		B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	Missense_Mutation	SNP	ENST00000375203.3	37	c.1784G>A	CCDS4737.1	.	.	.	.	.	.	.	.	.	.	C	33	5.289386	0.95517	4.54E-4	2.33E-4	ENSG00000213676	ENST00000375192;ENST00000375203;ENST00000375201	T;T	0.60548	0.18;0.93	5.17	5.17	0.71159	5.17	5.17	0.71159	.	0.000000	0.56097	U	0.000023	T	0.65780	0.2724	L	0.49126	1.545	0.51012	D	0.999906	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.992	T	0.69698	-0.5075	10	0.87932	D	0	-4.5871	16.1583	0.81680	0.0:1.0:0.0:0.0	.	595;598;598	Q99941-2;Q99941;Q6AZW6	.;ATF6B_HUMAN;.	Q	201;598;595	ENSP00000364349:R598Q;ENSP00000364347:R595Q	ENSP00000364338:R201Q	R	-	2	0	0	ATF6B	32192463	32192463	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	6.988000	0.76212	2.403000	0.81681	0.563000	0.77884	CGA		0.552	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076638.2		47.224221	-6	-6	39	39			15	47.224221	47.224221	15	0.500000	0	0	0	1	0	15	15	0.5
CASP14	23581	broad.mit.edu	37	19	15166256	15166256	+	Missense_Mutation	SNP	G	G	A	rs185297693	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:15166256G>A	ENST00000427043.3	+	6	844	c.536G>A	c.(535-537)cGa>cAa	p.R179Q	AC004699.1_ENST00000411269.1_RNA|CASP14_ENST00000221740.1_Missense_Mutation_p.R179Q	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	179					cornification (GO:0070268)|epidermis development (GO:0008544)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinization (GO:0031424)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						ATCGCCTACCGACATGATCAG	0.532													G|||	16	0.00319489	0.003	0.0	5008	,	,		18221	0.0099		0.0	False		,,,				2504	0.002					ENST00000427043.3											0			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						c.(535-537)cGa>cAa	caspase 14, apoptosis-related cysteine peptidase						110.0	95.0	100.0					19																	15166256		2203	4300	6503	SO:0001583	missense	23581			apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity	g.chr19:15166256G>A			CCDS12323.1	CCDS12323.1	19p13.1	2008-07-16	2005-08-17		2008-07-16	2005-08-17			ENSG00000105141		ENSG00000105141				1502	1502	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""apoptosis-related cysteine protease"""	"""apoptosis-related cysteine protease"""	605848	605848	"""caspase 14, apoptosis-related cysteine protease"""		"""caspase 14, apoptosis-related cysteine protease"""			10203698, 9792675	10203698, 9792675	Standard	Standard	NM_012114	NM_012114		Approved	MICE, MGC119078, MGC119079	uc010dzv.2	uc010dzv.2	P31944	P31944			ENST00000427043.3:c.536G>A	19.37:g.15166256G>A	ENSP00000393417:p.Arg179Gln		CASP14_ENST00000221740.1_Missense_Mutation_p.R179Q	p.R179Q	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN			6	844	+			179		O95823|Q3SYC9	Missense_Mutation	SNP	ENST00000427043.3	37	c.536G>A	CCDS12323.1	6	0.0027472527472527475	3	0.006097560975609756	0	0.0	3	0.005244755244755245	0	0.0	g	15.58	2.875696	0.51695	.	.	ENSG00000105141	ENST00000427043;ENST00000221740	T;T	0.25250	1.81;1.81	4.5	4.5	0.54988	4.5	4.5	0.54988	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (2);	0.224065	0.30940	N	0.008578	T	0.52901	0.1763	H	0.96398	3.815	0.42975	D	0.994442	D	0.89917	1.0	D	0.66196	0.942	T	0.72424	-0.4298	10	0.72032	D	0.01	.	13.0259	0.58814	0.0:0.0:1.0:0.0	.	179	P31944	CASPE_HUMAN	Q	179	ENSP00000393417:R179Q;ENSP00000221740:R179Q	ENSP00000221740:R179Q	R	+	2	0	0	CASP14	15027256	15027256	1.000000	0.71417	1.000000	0.80357	0.069000	0.16628	4.534000	0.60622	2.197000	0.70478	0.462000	0.41574	CGA		0.532	CASP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465663.1		10.516956	-16	-16	103	103	NM_012114		9	22.378062	22.378062	71	0.112500	0	0	0	1	0	9	71	0.1125
ANK1	286	broad.mit.edu	37	8	41550657	41550657	+	Missense_Mutation	SNP	C	C	T	rs540853007		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr8:41550657C>T	ENST00000347528.4	-	30	3678	c.3595G>A	c.(3595-3597)Gag>Aag	p.E1199K	ANK1_ENST00000396942.1_Missense_Mutation_p.E1199K|ANK1_ENST00000352337.4_Missense_Mutation_p.E1199K|ANK1_ENST00000265709.8_Missense_Mutation_p.E1240K|ANK1_ENST00000396945.1_Missense_Mutation_p.E1199K|ANK1_ENST00000379758.2_Missense_Mutation_p.E1199K|ANK1_ENST00000289734.7_Missense_Mutation_p.E1199K	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1199	ZU5 2. {ECO:0000255|PROSITE- ProRule:PRU00485}.				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)			TTGGCGCACTCGTTGGCATAT	0.572													C|||	1	0.000199681	0.0	0.0	5008	,	,		20867	0.001		0.0	False		,,,				2504	0.0					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.(3595-3597)Gag>Aag	ankyrin 1, erythrocytic						365.0	284.0	312.0					8																	41550657		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.chr8:41550657C>T	M28880	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			2013-01-10			ENSG00000029534	ENSG00000029534	ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	"""Ankyrin repeat domain containing"""	492	492	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612641	612641		ANK		ANK		1689849	1689849	Standard	Standard	NM_001142445	NM_001142445		Approved	SPH1	uc003xom.3	uc003xom.3	P16157	P16157	OTTHUMG00000150281	OTTHUMG00000150281	ENST00000347528.4:c.3595G>A	8.37:g.41550657C>T	ENSP00000339620:p.Glu1199Lys		ANK1_ENST00000265709.8_Missense_Mutation_p.E1240K|ANK1_ENST00000352337.4_Missense_Mutation_p.E1199K|ANK1_ENST00000396945.1_Missense_Mutation_p.E1199K|ANK1_ENST00000379758.2_Missense_Mutation_p.E1199K|ANK1_ENST00000289734.7_Missense_Mutation_p.E1199K|ANK1_ENST00000347528.4_Missense_Mutation_p.E1199K	p.E1199K			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)		30	3678	-	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)	1199		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.3595G>A	CCDS6119.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.3|26.3	4.728921|4.728921	0.89390|0.89390	.|.	.|.	ENSG00000029534|ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820|ENST00000520299	T;T;T;T;T;T;T|.	0.73789|.	-0.78;-0.78;-0.78;-0.78;-0.78;-0.78;-0.78|.	4.94|4.94	4.94|4.94	0.65067|0.65067	4.94|4.94	4.94|4.94	0.65067|0.65067	.|.	0.250398|.	0.38492|.	N|.	0.001673|.	T|T	0.60932|0.60932	0.2307|0.2307	L|L	0.38838|0.38838	1.175|1.175	0.54753|0.54753	D|D	0.999983|0.999983	P;P;D;D;P;D|.	0.59357|.	0.886;0.912;0.979;0.972;0.886;0.985|.	B;B;B;B;B;B|.	0.42462|.	0.388;0.239;0.296;0.388;0.388;0.326|.	T|T	0.56679|0.56679	-0.7939|-0.7939	10|5	0.87932|.	D|.	0|.	.|.	18.5488|18.5488	0.91056|0.91056	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1240;1199;1199;1199;1199;515|.	P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39|.	.;.;ANK1_HUMAN;.;.;.|.	K|Q	1199;1199;1199;1199;1199;1199;1240;1199|520	ENSP00000339620:E1199K;ENSP00000289734:E1199K;ENSP00000369082:E1199K;ENSP00000380149:E1199K;ENSP00000380147:E1199K;ENSP00000309131:E1199K;ENSP00000265709:E1240K|.	ENSP00000265709:E1240K|.	E|R	-|-	1|2	0|0	0|0	ANK1|ANK1	41669814|41669814	41669814|41669814	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.838000|0.838000	0.47535|0.47535	4.859000|4.859000	0.62954|0.62954	2.453000|2.453000	0.82957|0.82957	0.467000|0.467000	0.42956|0.42956	GAG|CGA		0.572	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1		-3.717351	15	15	87	87	NM_020475		3	6.405836	6.405836	47	0.060000	0	0	0	1	0	3	47	0.06
SUN5	140732	broad.mit.edu	37	20	31571673	31571673	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr20:31571673C>T	ENST00000356173.3	-	13	1159	c.1067G>A	c.(1066-1068)cGc>cAc	p.R356H	SUN5_ENST00000375523.3_Missense_Mutation_p.R331H	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	356	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						CACTCGCACGCGGTACAGGCA	0.557																																						ENST00000356173.3											0			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						c.(1066-1068)cGc>cAc	Sad1 and UNC84 domain containing 5						84.0	92.0	90.0					20																	31571673		2203	4300	6503	SO:0001583	missense	140732			spermatogenesis			g.chr20:31571673C>T	AL121756	AL121756	CCDS13209.1	CCDS13209.1	20q11.21	2010-01-27	2010-01-27	2010-01-27	2010-01-27	2010-01-27	2010-01-27	ENSG00000167098	ENSG00000167098	ENSG00000167098	ENSG00000167098				16252	16252	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""testis and spermatogenesis related gene 4"""	"""testis and spermatogenesis related gene 4"""	613942	613942	"""sperm associated antigen 4-like"""	SPAG4L	"""sperm associated antigen 4-like"""	SPAG4L		9691178, 10373309	9691178, 10373309	Standard	Standard	NM_080675	NM_080675		Approved	dJ726C3.1, TSARG4	uc002wyi.3	uc002wyi.3	Q8TC36	Q8TC36	OTTHUMG00000032239	OTTHUMG00000032239	ENST00000356173.3:c.1067G>A	20.37:g.31571673C>T	ENSP00000348496:p.Arg356His		SUN5_ENST00000375523.3_Missense_Mutation_p.R331H	p.R356H	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN			13	1159	-			356	SUN.	A6NJ82|Q5T9R0	Missense_Mutation	SNP	ENST00000356173.3	37	c.1067G>A	CCDS13209.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.352931	0.82132	.	.	ENSG00000167098	ENST00000356173;ENST00000375523	T;T	0.80480	-1.38;-1.38	4.86	4.86	0.63082	4.86	4.86	0.63082	Sad1/UNC-like, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.90003	0.6879	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91434	0.5168	10	0.87932	D	0	-21.1096	13.8647	0.63581	0.0:1.0:0.0:0.0	.	356	Q8TC36	SUN5_HUMAN	H	356;331	ENSP00000348496:R356H;ENSP00000364673:R331H	ENSP00000348496:R356H	R	-	2	0	0	SUN5	31035334	31035334	1.000000	0.71417	0.949000	0.38748	0.695000	0.40330	5.510000	0.67018	2.408000	0.81797	0.655000	0.94253	CGC		0.557	SUN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078659.1		18.075101	22	22	150	150	NM_080675		11	27.073959	27.073959	64	0.146667	0	0	0	1	0	11	64	0.146667
ABCA7	10347	broad.mit.edu	37	19	1054604	1054604	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:1054604C>T	ENST00000263094.6	+	28	3993	c.3762C>T	c.(3760-3762)ctC>ctT	p.L1254L	ABCA7_ENST00000433129.1_Silent_p.L1254L|ABCA7_ENST00000435683.2_Silent_p.L1116L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1254					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCTGGCCCTCGTGTTCAGCC	0.632																																						ENST00000263094.6											0			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(3760-3762)ctC>ctT	ATP-binding cassette, sub-family A (ABC1), member 7						89.0	67.0	74.0					19																	1054604		2203	4300	6503	SO:0001819	synonymous_variant	10347			phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1054604C>T	AF328787	AF328787	CCDS12055.1	CCDS12055.1	19p13.3	2012-03-14			2012-03-14			ENSG00000064687	ENSG00000064687	ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	"""ATP binding cassette transporters / subfamily A"""	37	37	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605414	605414								Standard	Standard	NM_019112	NM_019112		Approved	ABCX	uc002lqw.4	uc002lqw.4	Q8IZY2	Q8IZY2	OTTHUMG00000167547	OTTHUMG00000167547	ENST00000263094.6:c.3762C>T	19.37:g.1054604C>T			ABCA7_ENST00000435683.2_Silent_p.L1116L|ABCA7_ENST00000433129.1_Silent_p.L1254L	p.L1254L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	28	3993	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	1254		Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	c.3762C>T	CCDS12055.1																																																																																									0.632	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1		4.310128	5	5	42	42	NM_019112		3	7.364893	7.364893	20	0.130435	0	0	0	1	0	3	20	0.130435
PTCD1	26024	broad.mit.edu	37	7	99022532	99022532	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:99022532C>T	ENST00000292478.4	-	6	1873	c.1623G>A	c.(1621-1623)gcG>gcA	p.A541A	ATP5J2-PTCD1_ENST00000413834.1_Silent_p.A590A|PTCD1_ENST00000555673.1_Silent_p.A590A	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	541					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			CCGGCAACAGCGCCTTGGCCC	0.612																																						ENST00000292478.4											0			endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27						c.(1621-1623)gcG>gcA	pentatricopeptide repeat domain 1						73.0	69.0	70.0					7																	99022532		2203	4300	6503	SO:0001819	synonymous_variant	26024						g.chr7:99022532C>T	AB014532		CCDS34691.1	CCDS56496.1	7q22.1	2006-01-27			2011-02-21				ENSG00000106246	ENSG00000248919	ENSG00000248919				22198	38844	protein-coding gene	gene with protein product	other	readthrough			614774									Standard	Standard	NM_015545	NM_001198879		Approved	KIAA0632		uc011kiw.2	O75127			OTTHUMG00000160779	ENST00000292478.4:c.1623G>A	7.37:g.99022532C>T			PTCD1_ENST00000555673.1_Silent_p.A590A|ATP5J2-PTCD1_ENST00000413834.1_Silent_p.A590A	p.A541A	NM_015545.3	NP_056360.2			STAD - Stomach adenocarcinoma(171;0.215)		6	1873	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)				Q3ZB78|Q66K60|Q9UDV2	Silent	SNP	ENST00000292478.4	37	c.1623G>A	CCDS34691.1																																																																																									0.612	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336391.1		17.914275	-18	-18	37	37	NM_015545		7	19.163303	19.163303	19	0.269231	0	0	0	1	0	7	19	0.269231
FGFR4	2264	broad.mit.edu	37	5	176520431	176520431	+	Missense_Mutation	SNP	G	G	A	rs55879131		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:176520431G>A	ENST00000292408.4	+	10	1521	c.1276G>A	c.(1276-1278)Ggc>Agc	p.G426S	FGFR4_ENST00000393648.2_Silent_p.P374P|FGFR4_ENST00000502906.1_Missense_Mutation_p.G426S|FGFR4_ENST00000292410.3_Missense_Mutation_p.G386S|FGFR4_ENST00000393637.1_Missense_Mutation_p.G386S	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	426			G -> S (in dbSNP:rs55879131). {ECO:0000269|PubMed:17344846}.		alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	AGGCTCTTCCGGCAAGTCAAG	0.617										TSP Lung(9;0.080)			G|||	1	0.000199681	0.0	0.0	5008	,	,		16876	0.0		0.001	False		,,,				2504	0.0					ENST00000292408.4											0			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34						c.(1276-1278)Ggc>Agc	fibroblast growth factor receptor 4	G	SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	79.0	81.0	80.0		1276,1156,1276	3.9	0.9	5	dbSNP_129	80	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	FGFR4	NM_002011.3,NM_022963.2,NM_213647.1	56,56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	426/803,386/763,426/803	176520431	1,13005	2203	4300	6503	SO:0001583	missense	2264			insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	g.chr5:176520431G>A	AF202063	AF202063	CCDS4410.1, CCDS4411.1	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			2013-09-19			ENSG00000160867	ENSG00000160867	ENSG00000160867	ENSG00000160867		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3691	3691	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			134935	134935								Standard	Standard	XM_005265837	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	uc003mfm.3	P22455	P22455	OTTHUMG00000151523	OTTHUMG00000151523	ENST00000292408.4:c.1276G>A	5.37:g.176520431G>A	ENSP00000292408:p.Gly426Ser		FGFR4_ENST00000393637.1_Missense_Mutation_p.G386S|FGFR4_ENST00000502906.1_Missense_Mutation_p.G426S|FGFR4_ENST00000292410.3_Missense_Mutation_p.G386S|FGFR4_ENST00000393648.2_Silent_p.P374P	p.G426S	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		10	1521	+	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	426		G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Missense_Mutation	SNP	ENST00000292408.4	37	c.1276G>A	CCDS4410.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	10.99|10.99	1.506986|1.506986	0.27036|0.27036	0.0|0.0	1.16E-4|1.16E-4	ENSG00000160867|ENSG00000160867	ENST00000292408;ENST00000502906;ENST00000292410;ENST00000393637;ENST00000377207|ENST00000511076	D;D;D;D|.	0.82984|.	-1.67;-1.67;-1.67;-1.67|.	4.76|4.76	3.89|3.89	0.44902|0.44902	4.76|4.76	3.89|3.89	0.44902|0.44902	.|.	0.213165|.	0.48286|.	N|.	0.000189|.	T|T	0.63640|0.63640	0.2528|0.2528	L|L	0.60455|0.60455	1.87|1.87	0.40652|0.40652	D|D	0.982048|0.982048	P;B|.	0.39964|.	0.697;0.083|.	B;B|.	0.29524|.	0.103;0.015|.	T|T	0.63791|0.63791	-0.6557|-0.6557	10|5	0.07813|.	T|.	0.8|.	.|.	13.0003|13.0003	0.58672|0.58672	0.0792:0.0:0.9208:0.0|0.0792:0.0:0.9208:0.0	rs55879131|rs55879131	386;426|.	P22455-2;P22455|.	.;FGFR4_HUMAN|.	S|Q	426;426;386;386;654|57	ENSP00000292408:G426S;ENSP00000424960:G426S;ENSP00000292410:G386S;ENSP00000377254:G386S|.	ENSP00000292408:G426S|.	G|R	+|+	1|2	0|0	0|0	FGFR4|FGFR4	176453037|176453037	176453037|176453037	1.000000|1.000000	0.71417|0.71417	0.864000|0.864000	0.33941|0.33941	0.633000|0.633000	0.38033|0.38033	3.836000|3.836000	0.55813|0.55813	1.256000|1.256000	0.44068|0.44068	-0.226000|-0.226000	0.12346|0.12346	GGC|CGG		0.617	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1		38.795248	-18	-18	94	94			15	42.560067	42.560067	47	0.241935	0	0	0	1	0	15	47	0.241935
DLX2	1746	broad.mit.edu	37	2	172965648	172965648	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:172965648G>A	ENST00000234198.4	-	3	971	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W	AC104801.1_ENST00000448117.1_lincRNA|DLX2_ENST00000466293.2_3'UTR	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	distal-less homeobox 2	204					brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|cartilage development (GO:0051216)|cerebral cortex GABAergic interneuron fate commitment (GO:0021893)|embryonic cranial skeleton morphogenesis (GO:0048701)|hippocampus development (GO:0021766)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb development (GO:0021772)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|subpallium development (GO:0021544)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded RNA binding (GO:0003727)			endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			AACTTGGACCGGCGGTTCTGG	0.542																																					GBM(188;775 2993 11256 23072)	ENST00000234198.4											0			endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11						c.(610-612)Cgg>Tgg	distal-less homeobox 2						37.0	38.0	38.0					2																	172965648		2141	4151	6292	SO:0001583	missense	1746				nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:172965648G>A	U51003	U51003	CCDS2248.1	CCDS2248.1	2q31.1	2011-06-20	2005-12-22		2011-06-20	2005-12-22		ENSG00000115844	ENSG00000115844	ENSG00000115844	ENSG00000115844		"""Homeoboxes / ANTP class : NKL subclass"""	"""Homeoboxes / ANTP class : NKL subclass"""	2915	2915	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			126255	126255	"""distal-less homeo box 2"""		"""distal-less homeo box 2"""			1354641	1354641	Standard	Standard	NM_004405	NM_004405		Approved	TES-1	uc002uhn.3	uc002uhn.3	Q07687	Q07687	OTTHUMG00000132276	OTTHUMG00000132276	ENST00000234198.4:c.610C>T	2.37:g.172965648G>A	ENSP00000234198:p.Arg204Trp		DLX2_ENST00000466293.2_3'UTR	p.R204W	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		3	971	-			204		B4DMK4|B7ZA14	Missense_Mutation	SNP	ENST00000234198.4	37	c.610C>T	CCDS2248.1	.	.	.	.	.	.	.	.	.	.	g	25.5	4.648960	0.87958	.	.	ENSG00000115844	ENST00000234198	D	0.99167	-5.51	4.8	4.8	0.61643	4.8	4.8	0.61643	Homeobox, eukaryotic (1);Homeodomain-related (1);Helix-turn-helix motif, lambda-like repressor (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99486	0.9817	H	0.96080	3.765	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98221	1.0478	10	0.87932	D	0	-15.7063	13.3491	0.60591	0.0:0.0:0.8413:0.1587	.	204	Q07687	DLX2_HUMAN	W	204	ENSP00000234198:R204W	ENSP00000234198:R204W	R	-	1	2	2	DLX2	172673894	172673894	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.497000	0.60367	2.196000	0.70406	0.457000	0.33378	CGG		0.542	DLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255368.3		6.044595	-7	-7	47	47			5	12.030141	12.030141	37	0.119048	0	0	0	1	0	5	37	0.119048
MIR519A2	574500	broad.mit.edu	37	19	54264407	54264407	+	lincRNA	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:54264407G>A	ENST00000384990.1	+	0	0				RNU6-1041P_ENST00000516254.1_RNA|MIR1283-2_ENST00000408621.1_RNA|MIR516A2_ENST00000384888.1_RNA	NR_030222.1				microRNA 519a-2																		TGACCTTCTCGAGGAAAGAAG	0.413																																						ENST00000384888.1											0																	110.0	100.0	103.0					19																	54264407		1568	3582	5150			0						g.chr19:54264407G>A					19q13.42	2011-09-12		2008-12-18	2011-09-12		2008-12-18	ENSG00000207723		ENSG00000207723			"""ncRNAs / Micro RNAs"""	"""ncRNAs / Micro RNAs"""	32132	32132	non-coding RNA	RNA, micro	non-coding RNA	RNA, micro						MIRN519A-2, MIRN519A2		MIRN519A-2, MIRN519A2				Standard	Standard	NR_030222	NR_030222		Approved	hsa-mir-519a-2	uc021vaz.1	uc021vaz.1						19.37:g.54264407G>A					NR_030221.1						0	21	+						RNA	SNP	ENST00000384990.1	37																																																																																											0.413	MIR519A2-201	KNOWN	basic	miRNA	lincRNA			99.488258	-46	-46	131	131	NR_030222		32	99.966874	99.966874	45	0.415584	0	0	0	1	0	32	45	0.415584
FAM57B	83723	broad.mit.edu	37	16	30036680	30036680	+	Missense_Mutation	SNP	G	G	A	rs202084270	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:30036680G>A	ENST00000380495.4	-	5	1380	c.649C>T	c.(649-651)Cgc>Tgc	p.R217C	FAM57B_ENST00000279389.4_Missense_Mutation_p.R167C|FAM57B_ENST00000564806.1_3'UTR	NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B	217	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|negative regulation of fat cell differentiation (GO:0045599)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sphingosine N-acyltransferase activity (GO:0050291)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						CCGGCATGGCGCCCGTAGGCC	0.672													G|||	3	0.000599042	0.0	0.0	5008	,	,		13987	0.003		0.0	False		,,,				2504	0.0					ENST00000380495.4											0			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						c.(649-651)Cgc>Tgc	family with sequence similarity 57, member B						36.0	39.0	38.0					16																	30036680		2195	4296	6491	SO:0001583	missense	83723				endoplasmic reticulum|integral to membrane		g.chr16:30036680G>A	AF370365	AF370365	CCDS10667.2	CCDS10667.2	16p11.2	2013-02-19			2013-02-19			ENSG00000149926	ENSG00000149926	ENSG00000149926	ENSG00000149926				25295	25295	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615175	615175						11230166, 23275342	11230166, 23275342	Standard	Standard	NM_031478	NM_031478		Approved	DKFZP434I2117	uc002dvt.3	uc002dvt.3	Q71RH2	Q71RH2	OTTHUMG00000132105	OTTHUMG00000132105	ENST00000380495.4:c.649C>T	16.37:g.30036680G>A	ENSP00000369863:p.Arg217Cys		FAM57B_ENST00000279389.4_Missense_Mutation_p.R167C|FAM57B_ENST00000564806.1_3'UTR	p.R217C	NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN			5	1380	-			217	TLC.	Q9H0J1	Missense_Mutation	SNP	ENST00000380495.4	37	c.649C>T	CCDS10667.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	17.01	3.280625	0.59758	.	.	ENSG00000149926	ENST00000380495	D	0.85773	-2.03	4.78	3.8	0.43715	4.78	3.8	0.43715	TRAM/LAG1/CLN8 homology domain (3);	0.124480	0.49916	D	0.000124	D	0.85137	0.5628	M	0.75777	2.31	0.80722	D	1	P	0.39116	0.66	B	0.41332	0.354	T	0.83349	-0.0004	10	0.37606	T	0.19	-5.6786	13.0654	0.59030	0.0:0.0:0.8373:0.1627	.	217	Q71RH2	FA57B_HUMAN	C	217	ENSP00000369863:R217C	ENSP00000369863:R217C	R	-	1	0	0	FAM57B	29944181	29944181	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.638000	0.46562	0.950000	0.37743	0.561000	0.74099	CGC		0.672	FAM57B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255142.2		11.498167	0	0	21	21	NM_031478		4	11.585551	11.585551	6	0.400000	0	0	0	1	0	4	6	0.4
REXO1	57455	broad.mit.edu	37	19	1828397	1828397	+	Missense_Mutation	SNP	C	C	T	rs202065048	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:1828397C>T	ENST00000170168.4	-	2	485	c.391G>A	c.(391-393)Ggc>Agc	p.G131S	REXO1_ENST00000587524.1_5'UTR	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	131						nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGTTggggccgcggggcgcc	0.731													.|||	3	0.000599042	0.0	0.0014	5008	,	,		11697	0.002		0.0	False		,,,				2504	0.0					ENST00000170168.4											0			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16						c.(391-393)Ggc>Agc	REX1, RNA exonuclease 1 homolog (S. cerevisiae)																																			SO:0001583	missense	57455				nucleus	exonuclease activity|nucleic acid binding	g.chr19:1828397C>T	AB032964	AB032964	CCDS32866.1	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313	ENSG00000079313	ENSG00000079313				24616	24616	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""elongin A binding protein 1"""	"""elongin A binding protein 1"""	609614	609614	"""transcription elongation factor B polypeptide 3 binding protein 1"""	TCEB3BP1	"""transcription elongation factor B polypeptide 3 binding protein 1"""	TCEB3BP1		10574461	10574461	Standard	Standard	NM_020695	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	uc002lua.4	Q8N1G1	Q8N1G1	OTTHUMG00000179991	OTTHUMG00000179991	ENST00000170168.4:c.391G>A	19.37:g.1828397C>T	ENSP00000170168:p.Gly131Ser		REXO1_ENST00000587524.1_5'UTR	p.G131S	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	485	-		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	131		Q9ULT2	Missense_Mutation	SNP	ENST00000170168.4	37	c.391G>A	CCDS32866.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	0.356	-0.942275	0.02322	.	.	ENSG00000079313	ENST00000170168;ENST00000413153	T	0.10860	2.83	3.42	-0.681	0.11342	3.42	-0.681	0.11342	.	1.624920	0.03428	N	0.207374	T	0.05456	0.0144	N	0.17474	0.49	0.09310	N	1	B;B	0.31817	0.341;0.001	B;B	0.19148	0.024;0.001	T	0.29212	-1.0019	10	0.08179	T	0.78	-10.4205	6.959	0.24587	0.0:0.2925:0.0:0.7075	.	85;131	F5H016;Q8N1G1	.;REXO1_HUMAN	S	131;85	ENSP00000170168:G131S	ENSP00000170168:G131S	G	-	1	0	0	REXO1	1779397	1779397	0.001000	0.12720	0.006000	0.13384	0.001000	0.01503	0.079000	0.14782	0.066000	0.16515	-0.448000	0.05591	GGC		0.731	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1		6.815597	-5	-5	20	20	NM_020695		3	8.278564	8.278564	13	0.187500	0	0	0	1	0	3	13	0.1875
IFT27	11020	broad.mit.edu	37	22	37163883	37163883	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr22:37163883C>T	ENST00000433985.2	-	2	478	c.58G>A	c.(58-60)Gcc>Acc	p.A20T	IFT27_ENST00000340630.5_Missense_Mutation_p.A19T|IFT27_ENST00000453009.2_5'UTR	NM_001177701.2	NP_001171172.1	Q9BW83	IFT27_HUMAN	intraflagellar transport 27	20					small GTPase mediated signal transduction (GO:0007264)	centrosome (GO:0005813)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	GTP binding (GO:0005525)			endometrium(3)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						TGTGCCAGGGCGGTCTTGCCC	0.512																																						ENST00000340630.5											0			endometrium(3)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(55-57)Gcc>Acc	intraflagellar transport 27 homolog (Chlamydomonas)						210.0	198.0	202.0					22																	37163883		2203	4300	6503	SO:0001583	missense	11020			small GTPase mediated signal transduction	intraflagellar transport particle B|microtubule-based flagellum	GTP binding	g.chr22:37163883C>T	Z80897	Z80897	CCDS13932.1, CCDS54523.1	CCDS13932.1, CCDS54523.1	22q13.1	2014-07-03	2014-07-03	2010-04-22	2014-07-03	2014-07-03	2010-04-22	ENSG00000100360	ENSG00000100360	ENSG00000100360	ENSG00000100360		"""Intraflagellar transport homologs"", ""RAB, member RAS oncogene"""	"""Intraflagellar transport homologs"", ""RAB, member RAS oncogene"""	18626	18626	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615870	615870	"""RAB, member of RAS oncogene family-like 4"", ""intraflagellar transport 27 homolog (Chlamydomonas)"""	RABL4	"""RAB, member of RAS oncogene family-like 4"", ""intraflagellar transport 27 homolog (Chlamydomonas)"""	RABL4		12529303, 17276912	12529303, 17276912	Standard	Standard	NM_001177701	NM_001177701		Approved	RAYL, BBS19	uc003apv.3	uc003apv.3	Q9BW83	Q9BW83	OTTHUMG00000150544	OTTHUMG00000150544	ENST00000433985.2:c.58G>A	22.37:g.37163883C>T	ENSP00000393541:p.Ala20Thr		IFT27_ENST00000453009.2_5'UTR|IFT27_ENST00000433985.2_Missense_Mutation_p.A20T	p.A19T	NM_006860.4	NP_006851.1	Q9BW83	IFT27_HUMAN			2	500	-			20		O60897	Missense_Mutation	SNP	ENST00000433985.2	37	c.55G>A	CCDS54523.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.231071	0.39399	.	.	ENSG00000100360	ENST00000340630;ENST00000433985;ENST00000417951;ENST00000430701	T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92	4.5	3.46	0.39613	4.5	3.46	0.39613	Small GTP-binding protein domain (1);	0.209151	0.41294	D	0.000903	T	0.76111	0.3942	L	0.49126	1.545	0.80722	D	1	D;P;P;P	0.69078	0.997;0.899;0.954;0.835	P;B;B;B	0.57960	0.83;0.236;0.313;0.416	T	0.75897	-0.3155	10	0.49607	T	0.09	.	8.4676	0.32966	0.0:0.8151:0.0:0.1849	.	59;19;20;19	F5GZ09;B1AH58;Q9BW83;Q9BW83-2	.;.;IFT27_HUMAN;.	T	19;20;59;19	ENSP00000343593:A19T;ENSP00000393541:A20T;ENSP00000392016:A59T;ENSP00000390016:A19T	ENSP00000343593:A19T	A	-	1	0	0	IFT27	35493829	35493829	0.763000	0.28462	0.921000	0.36526	0.487000	0.33371	1.307000	0.33516	2.060000	0.61445	0.561000	0.74099	GCC		0.512	IFT27-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			-27.860253	-4	-4	236	236	NM_006860		5	10.057954	10.057954	153	0.031646	0	0	0	1	0	5	153	0.031646
KCNA5	3741	broad.mit.edu	37	12	5154303	5154303	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:5154303G>A	ENST00000252321.3	+	1	1219	c.990G>A	c.(988-990)acG>acA	p.T330T		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	330					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)	p.T330T(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	TGGAGACCACGTGCGTCATCT	0.652																																						ENST00000252321.3											1	Substitution - coding silent(1)	large_intestine(1)	NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						c.(988-990)acG>acA	potassium voltage-gated channel, shaker-related subfamily, member 5						86.0	78.0	81.0					12																	5154303		2203	4300	6503	SO:0001819	synonymous_variant	3741				Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5154303G>A	M83254	M83254	CCDS8536.1	CCDS8536.1	12p13	2012-07-05			2012-07-05				ENSG00000130037		ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	6224	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			176267	176267						16382104	16382104	Standard	Standard	NM_002234	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	uc001qni.4	P22460	P22460			ENST00000252321.3:c.990G>A	12.37:g.5154303G>A				p.T330T	NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN			1	1219	+			330		Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Silent	SNP	ENST00000252321.3	37	c.990G>A	CCDS8536.1																																																																																									0.652	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2		7.281245	-3	-3	95	95	NM_002234		7	16.699361	16.699361	56	0.111111	0	0	0	1	0	7	56	0.111111
SCN8A	6334	broad.mit.edu	37	12	52200942	52200942	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:52200942G>A	ENST00000354534.6	+	27	5850	c.5672G>A	c.(5671-5673)cGt>cAt	p.R1891H	RP11-923I11.3_ENST00000565518.1_lincRNA|AC068987.1_ENST00000599343.1_5'Flank|SCN8A_ENST00000545061.1_Missense_Mutation_p.R1850H	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1891					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	ACCACACTGCGTCGCAAGCAG	0.547																																						ENST00000354534.6											0			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(5671-5673)cGt>cAt	sodium channel, voltage gated, type VIII, alpha subunit						135.0	141.0	139.0					12																	52200942		2079	4221	6300	SO:0001583	missense	6334			axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52200942G>A	AB027567	AB027567	CCDS44891.1, CCDS53794.1	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23		2012-02-26	2007-01-23			ENSG00000196876		ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	10596	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600702	600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	7670495, 9828131, 16382098	Standard	Standard	NM_014191	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	uc001ryw.4	Q9UQD0	Q9UQD0			ENST00000354534.6:c.5672G>A	12.37:g.52200942G>A	ENSP00000346534:p.Arg1891His		SCN8A_ENST00000545061.1_Missense_Mutation_p.R1850H	p.R1891H	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	27	5850	+					B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.5672G>A	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.809232	0.70797	.	.	ENSG00000196876	ENST00000354534;ENST00000545061	D;D	0.96200	-3.94;-3.88	5.04	5.04	0.67666	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.97390	0.9146	M	0.78223	2.4	0.80722	D	1	D	0.76494	0.999	D	0.63033	0.91	D	0.97617	1.0133	10	0.66056	D	0.02	.	18.9611	0.92678	0.0:0.0:1.0:0.0	.	1891	Q9UQD0	SCN8A_HUMAN	H	1891;1850	ENSP00000346534:R1891H;ENSP00000440360:R1850H	ENSP00000346534:R1891H	R	+	2	0	0	SCN8A	50487209	50487209	0.937000	0.31787	1.000000	0.80357	0.831000	0.47069	4.762000	0.62250	2.793000	0.96121	0.655000	0.94253	CGT		0.547	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3		-29.670062	0	0	207	207	NM_014191		4	6.836714	6.836714	144	0.027027	0	0	0	1	0	4	144	0.027027
ATP10D	57205	broad.mit.edu	37	4	47538910	47538910	+	Nonsense_Mutation	SNP	C	C	T	rs375420700		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr4:47538910C>T	ENST00000273859.3	+	9	1620	c.1351C>T	c.(1351-1353)Cga>Tga	p.R451*	ATP10D_ENST00000504445.1_Nonsense_Mutation_p.R436*	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	451					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GATGGTTTTTCGAAGATGTAG	0.443																																						ENST00000273859.3											0			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						c.(1351-1353)Cga>Tga	ATPase, class V, type 10D	C	stop/ARG	0,4406		0,0,2203	66.0	64.0	64.0		1351	3.6	1.0	4		64	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	ATP10D	NM_020453.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		451/1427	47538910	1,13005	2203	4300	6503	SO:0001587	stop_gained	57205			ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47538910C>T	AB040920	AB040920	CCDS3476.1	CCDS3476.1	4p12	2010-04-20	2007-09-19		2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246	ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	"""ATPases / P-type"""	13549	13549	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""ATPase, Class V, type 10D"""		"""ATPase, Class V, type 10D"""			12532265	12532265	Standard	Standard	NM_020453	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	uc003gxk.1	Q9P241	Q9P241	OTTHUMG00000160784	OTTHUMG00000160784	ENST00000273859.3:c.1351C>T	4.37:g.47538910C>T	ENSP00000273859:p.Arg451*		ATP10D_ENST00000504445.1_Nonsense_Mutation_p.R436*	p.R451*	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN			9	1620	+			451		A2RRC8|D6REN2|Q8NC70|Q96SR3	Nonsense_Mutation	SNP	ENST00000273859.3	37	c.1351C>T	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	C	34	5.355705	0.95854	0.0	1.16E-4	ENSG00000145246	ENST00000273859;ENST00000504445	.	.	.	5.38	3.6	0.41247	5.38	3.6	0.41247	.	0.073080	0.56097	D	0.000032	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.3079	13.588	0.61942	0.2829:0.7171:0.0:0.0	.	.	.	.	X	451;436	.	ENSP00000273859:R451X	R	+	1	2	2	ATP10D	47233667	47233667	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	3.222000	0.51223	0.605000	0.29947	0.650000	0.86243	CGA		0.443	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1		0.294672	-19	-19	38	38	NM_020453		3	6.911429	6.911429	34	0.081081	0	0	0	1	0	3	34	0.081081
P2RY2	5029	broad.mit.edu	37	11	72945667	72945667	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:72945667G>A	ENST00000311131.2	+	3	930	c.463G>A	c.(463-465)Ggg>Agg	p.G155R	P2RY2_ENST00000393597.2_Missense_Mutation_p.G155R|P2RY2_ENST00000393596.2_Missense_Mutation_p.G155R	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	155					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	CCGGGTGGCCGGGGCCGTGTG	0.721																																						ENST00000311131.2											0			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25						c.(463-465)Ggg>Agg	purinergic receptor P2Y, G-protein coupled, 2						27.0	30.0	29.0					11																	72945667		2197	4287	6484	SO:0001583	missense	5029			activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:72945667G>A	U07225	U07225	CCDS8219.1	CCDS8219.1	11q13.5-q14.1	2012-08-08			2012-08-08				ENSG00000175591		ENSG00000175591		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8541	8541	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600041	600041						8159738, 9286708	8159738, 9286708	Standard	Standard	NM_002564	NM_002564		Approved	P2U	uc001otj.4	uc001otj.4	P41231	P41231			ENST00000311131.2:c.463G>A	11.37:g.72945667G>A	ENSP00000310305:p.Gly155Arg		P2RY2_ENST00000393596.2_Missense_Mutation_p.G155R|P2RY2_ENST00000393597.2_Missense_Mutation_p.G155R	p.G155R	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN			3	930	+			155		B2R9W3|Q96EM8	Missense_Mutation	SNP	ENST00000311131.2	37	c.463G>A	CCDS8219.1	.	.	.	.	.	.	.	.	.	.	G	11.81	1.749562	0.30955	.	.	ENSG00000175591	ENST00000393597;ENST00000311131;ENST00000393596	T;T;T	0.38722	1.12;1.12;1.12	5.24	4.31	0.51392	5.24	4.31	0.51392	GPCR, rhodopsin-like superfamily (1);	0.199336	0.41938	D	0.000798	T	0.47985	0.1475	M	0.64404	1.975	0.09310	N	1	B	0.32543	0.375	B	0.40565	0.333	T	0.49643	-0.8918	10	0.66056	D	0.02	.	14.1042	0.65078	0.0:0.0:0.8483:0.1517	.	155	P41231	P2RY2_HUMAN	R	155	ENSP00000377222:G155R;ENSP00000310305:G155R;ENSP00000377221:G155R	ENSP00000310305:G155R	G	+	1	0	0	P2RY2	72623315	72623315	0.175000	0.23083	0.002000	0.10522	0.217000	0.24651	2.889000	0.48601	1.179000	0.42884	0.561000	0.74099	GGG		0.721	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1		5.542406	-25	-25	45	45	NM_176072		5	12.270545	12.270545	40	0.111111	0	0	0	1	0	5	40	0.111111
ZNF521	25925	broad.mit.edu	37	18	22807526	22807526	+	Missense_Mutation	SNP	G	G	A	rs149969134		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr18:22807526G>A	ENST00000361524.3	-	4	504	c.356C>T	c.(355-357)cCg>cTg	p.P119L	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Missense_Mutation_p.P119L|ZNF521_ENST00000584787.1_5'UTR	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	119					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GAATTGACACGGGTATGGAAG	0.517			T	PAX5	ALL																																	ENST00000361524.3		Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(355-357)cCg>cTg	zinc finger protein 521	G	LEU/PRO	0,4406		0,0,2203	105.0	98.0	100.0		356	6.1	0.4	18	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF521	NM_015461.2	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	119/1312	22807526	1,13005	2203	4300	6503	SO:0001583	missense	25925			cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22807526G>A	AK027354	AK027354	CCDS32806.1	CCDS32806.1	18q11.2	2013-01-08			2013-01-08				ENSG00000198795		ENSG00000198795		"""Zinc fingers, C2H2-type"""	"""Zinc fingers, C2H2-type"""	24605	24605	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	"""early hematopoietic zinc finger"""	610974	610974						11984006, 14630787	11984006, 14630787	Standard	Standard	NM_015461	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	uc002kvk.2	Q96K83	Q96K83			ENST00000361524.3:c.356C>T	18.37:g.22807526G>A	ENSP00000354794:p.Pro119Leu		ZNF521_ENST00000584787.1_5'UTR|ZNF521_ENST00000538137.2_Missense_Mutation_p.P119L	p.P119L	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	504	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		119		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.356C>T	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.549679	0.27652	0.0	1.16E-4	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.52057	0.68;0.68	6.07	6.07	0.98685	6.07	6.07	0.98685	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.053757	0.85682	D	0.000000	T	0.49201	0.1543	N	0.19112	0.55	0.54753	D	0.999984	D	0.63880	0.993	P	0.56700	0.804	T	0.40850	-0.9541	10	0.38643	T	0.18	-17.3632	16.8961	0.86101	0.0:0.0:0.8714:0.1286	.	119	Q96K83	ZN521_HUMAN	L	119;153;119	ENSP00000354794:P119L;ENSP00000382352:P119L	ENSP00000354794:P119L	P	-	2	0	0	ZNF521	21061524	21061524	1.000000	0.71417	0.437000	0.26809	0.754000	0.42855	7.617000	0.83032	2.885000	0.99019	0.655000	0.94253	CCG		0.517	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2		31.598146	-37	-37	101	101	NM_015461		15	40.179553	40.179553	71	0.174419	0	0	0	1	0	15	71	0.174419
SLC25A18	83733	broad.mit.edu	37	22	18072420	18072420	+	Silent	SNP	C	C	T	rs556042476		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr22:18072420C>T	ENST00000327451.6	+	10	1333	c.795C>T	c.(793-795)acC>acT	p.T265T	SLC25A18_ENST00000399813.1_Silent_p.T265T|AC004019.13_ENST00000443935.1_RNA	NM_031481.1	NP_113669.1	Q9H1K4	GHC2_HUMAN	solute carrier family 25 (glutamate carrier), member 18	265						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	symporter activity (GO:0015293)	p.T265T(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)		GTGGGATCACCGACTGTGCCA	0.488													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18701	0.0		0.0	False		,,,				2504	0.0				Colon(118;1560 1625 18964 29606 50093)	ENST00000327451.6											1	Substitution - coding silent(1)	kidney(1)	breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18						c.(793-795)acC>acT	solute carrier family 25 (glutamate carrier), member 18						80.0	76.0	77.0					22																	18072420		2203	4300	6503	SO:0001819	synonymous_variant	83733				integral to membrane|mitochondrial inner membrane	binding|symporter activity	g.chr22:18072420C>T	AY008285	AY008285	CCDS13744.1	CCDS13744.1	22q11.2	2013-05-22	2012-03-29		2013-05-22	2012-03-29		ENSG00000182902	ENSG00000182902	ENSG00000182902	ENSG00000182902		"""Solute carriers"""	"""Solute carriers"""	10988	10988	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609303	609303	"""solute carrier family 25 (mitochondrial carrier), member 18"""		"""solute carrier family 25 (mitochondrial carrier), member 18"""			11381032, 11897791	11381032, 11897791	Standard	Standard	NM_031481	NM_031481		Approved		uc002zmp.1	uc002zmp.1	Q9H1K4	Q9H1K4	OTTHUMG00000150089	OTTHUMG00000150089	ENST00000327451.6:c.795C>T	22.37:g.18072420C>T			SLC25A18_ENST00000399813.1_Silent_p.T265T	p.T265T	NM_031481.1	NP_113669.1	Q9H1K4	GHC2_HUMAN		Lung(27;0.124)	10	1333	+						Silent	SNP	ENST00000327451.6	37	c.795C>T	CCDS13744.1																																																																																									0.488	SLC25A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316214.3		20.318302	-6	-6	53	53	NM_031481		7	20.834764	20.834764	14	0.333333	0	0	0	1	0	7	14	0.333333
ITGA2	3673	broad.mit.edu	37	5	52358678	52358678	+	Silent	SNP	C	C	T	rs371281604		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:52358678C>T	ENST00000296585.5	+	13	1664	c.1521C>T	c.(1519-1521)gaC>gaT	p.D507D		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	507					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				CCATTACAGACGTGCTCTTGG	0.368																																						ENST00000296585.5											0			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(1519-1521)gaC>gaT	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	C		0,4406		0,0,2203	186.0	172.0	177.0		1521	0.8	1.0	5		177	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ITGA2	NM_002203.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		507/1182	52358678	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3673			axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	g.chr5:52358678C>T			CCDS3957.1	CCDS3957.1	5q11.2	2010-03-23			2010-03-23			ENSG00000164171	ENSG00000164171	ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	"""CD molecules"", ""Integrins"""	6137	6137	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			192974	192974		CD49B		CD49B				Standard	Standard	NM_002203	NM_002203		Approved	CD49b	uc003joy.3	uc003joy.3	P17301	P17301	OTTHUMG00000131165	OTTHUMG00000131165	ENST00000296585.5:c.1521C>T	5.37:g.52358678C>T				p.D507D	NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN			13	1664	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	507		Q14595	Silent	SNP	ENST00000296585.5	37	c.1521C>T	CCDS3957.1																																																																																									0.368	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2		95.478484	-1	-1	119	119	NM_002203		29	95.514119	95.514119	26	0.527273	0	0	0	1	0	29	26	0.527273
PPFIA1	8500	broad.mit.edu	37	11	70208475	70208475	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:70208475G>A	ENST00000253925.7	+	21	2961	c.2746G>A	c.(2746-2748)Gac>Aac	p.D916N	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.D916N	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	916	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GGCCCTGTCCGACACAGAGAT	0.617																																						ENST00000253925.7											0			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65						c.(2746-2748)Gac>Aac	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1						88.0	80.0	82.0					11																	70208475		2200	4294	6494	SO:0001583	missense	8500			cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70208475G>A	U22816	U22816	CCDS31627.1, CCDS31628.1	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			2013-01-10			ENSG00000131626	ENSG00000131626	ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	"""Sterile alpha motif (SAM) domain containing"""	9245	9245	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	"""Liprin-alpha1"""	611054	611054						7796809, 9624153	7796809, 9624153	Standard	Standard	NM_003626	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	uc001opo.3	Q13136	Q13136	OTTHUMG00000167266	OTTHUMG00000167266	ENST00000253925.7:c.2746G>A	11.37:g.70208475G>A	ENSP00000253925:p.Asp916Asn		AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.D916N	p.D916N	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		21	2961	+			916	SAM 1.	A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	ENST00000253925.7	37	c.2746G>A	CCDS31627.1	.	.	.	.	.	.	.	.	.	.	G	35	5.514892	0.96402	.	.	ENSG00000131626	ENST00000253925;ENST00000389547;ENST00000544950	T;T	0.50001	0.76;0.76	5.32	5.32	0.75619	5.32	5.32	0.75619	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.69771	0.3148	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	1.0;0.995;0.999	D;D;D	0.83275	0.996;0.959;0.932	T	0.73020	-0.4114	10	0.87932	D	0	.	18.9937	0.92804	0.0:0.0:1.0:0.0	.	413;916;916	F5H1G2;Q13136;Q13136-2	.;LIPA1_HUMAN;.	N	916;916;413	ENSP00000253925:D916N;ENSP00000374198:D916N	ENSP00000253925:D916N	D	+	1	0	0	PPFIA1	69886123	69886123	1.000000	0.71417	0.946000	0.38457	0.857000	0.48899	9.542000	0.98086	2.488000	0.83962	0.561000	0.74099	GAC		0.617	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1		5.644673	-5	-5	66	66	NM_003626		5	11.876127	11.876127	38	0.116279	0	0	0	1	0	5	38	0.116279
HDLBP	3069	broad.mit.edu	37	2	242179190	242179190	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:242179190G>A	ENST00000391975.1	-	19	2664	c.2437C>T	c.(2437-2439)Cgc>Tgc	p.R813C	HDLBP_ENST00000391976.2_Missense_Mutation_p.R813C|HDLBP_ENST00000310931.4_Missense_Mutation_p.R813C|HDLBP_ENST00000427183.2_Missense_Mutation_p.R780C	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	813	KH 10. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		ACGAAGTGGCGGTGGTGCTTG	0.577																																						ENST00000391975.1											0			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2437-2439)Cgc>Tgc	high density lipoprotein binding protein						62.0	58.0	59.0					2																	242179190		2203	4300	6503	SO:0001583	missense	3069			cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242179190G>A			CCDS2547.1, CCDS58760.1	CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677	ENSG00000115677	ENSG00000115677				4857	4857	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			142695	142695	"""vigilin"""	VGL	"""vigilin"""	VGL		1318310, 8390966	1318310, 8390966	Standard	Standard	NM_005336	NM_005336		Approved	HBP	uc002waz.3	uc002waz.3	Q00341	Q00341	OTTHUMG00000133391	OTTHUMG00000133391	ENST00000391975.1:c.2437C>T	2.37:g.242179190G>A	ENSP00000375836:p.Arg813Cys		HDLBP_ENST00000310931.4_Missense_Mutation_p.R813C|HDLBP_ENST00000427183.2_Missense_Mutation_p.R780C|HDLBP_ENST00000391976.2_Missense_Mutation_p.R813C	p.R813C	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	19	2664	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	813	KH 10.	B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	c.2437C>T	CCDS2547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.4|26.4	4.734081|4.734081	0.89482|0.89482	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000373292|ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183	.|T;T;T;T	.|0.32753	.|1.44;1.44;1.44;1.44	5.41|5.41	4.53|4.53	0.55603|0.55603	5.41|5.41	4.53|4.53	0.55603|0.55603	.|K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	.|0.047041	.|0.85682	.|D	.|0.000000	T|T	0.60327|0.60327	0.2260|0.2260	M|M	0.86740|0.86740	2.835|2.835	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.79784	.|0.993;0.982	T|T	0.69045|0.69045	-0.5249|-0.5249	5|10	.|0.87932	.|D	.|0	-23.1174|-23.1174	14.4193|14.4193	0.67173|0.67173	0.0712:0.0:0.9288:0.0|0.0712:0.0:0.9288:0.0	.|.	.|780;813	.|E7EM71;Q00341	.|.;VIGLN_HUMAN	L|C	621|813;813;813;780	.|ENSP00000375836:R813C;ENSP00000375837:R813C;ENSP00000312042:R813C;ENSP00000399139:R780C	.|ENSP00000312042:R813C	P|R	-|-	2|1	0|0	0|0	HDLBP|HDLBP	241827863|241827863	241827863|241827863	1.000000|1.000000	0.71417|0.71417	0.922000|0.922000	0.36590|0.36590	0.929000|0.929000	0.56500|0.56500	9.699000|9.699000	0.98703|0.98703	1.427000|1.427000	0.47276|0.47276	0.561000|0.561000	0.74099|0.74099	CCG|CGC		0.577	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5		10.048807	-7	-7	43	43	NM_203346		5	11.568309	11.568309	17	0.227273	0	0	0	1	0	5	17	0.227273
WISP1	8840	broad.mit.edu	37	8	134225300	134225300	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr8:134225300C>T	ENST00000250160.6	+	2	369	c.263C>T	c.(262-264)aCg>aTg	p.T88M	WISP1_ENST00000220856.6_Missense_Mutation_p.T88M|WISP1_ENST00000517423.1_Missense_Mutation_p.T88M|WISP1_ENST00000377863.2_Intron|WISP1_ENST00000519433.1_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	88	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			GACAACTGCACGGAGGCTGCC	0.637																																						ENST00000250160.6											0			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21						c.(262-264)aCg>aTg	WNT1 inducible signaling pathway protein 1						60.0	60.0	60.0					8																	134225300		2203	4300	6503	SO:0001583	missense	8840			cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding	g.chr8:134225300C>T	AF100779	AF100779	CCDS6371.1, CCDS6372.1, CCDS56555.1, CCDS56556.1	CCDS6371.1, CCDS6372.1, CCDS56555.1, CCDS56556.1	8q24.22	2007-05-14			2007-05-14			ENSG00000104415	ENSG00000104415	ENSG00000104415	ENSG00000104415				12769	12769	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603398	603398						9843955	9843955	Standard	Standard	NM_003882	NM_003882		Approved	CCN4	uc003yub.3	uc003yub.3	O95388	O95388	OTTHUMG00000164440	OTTHUMG00000164440	ENST00000250160.6:c.263C>T	8.37:g.134225300C>T	ENSP00000250160:p.Thr88Met		WISP1_ENST00000377863.2_Intron|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000220856.6_Missense_Mutation_p.T88M|WISP1_ENST00000517423.1_Missense_Mutation_p.T88M	p.T88M	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0107)		2	369	+	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		88	IGFBP N-terminal.	A8KAG6|E7EMM5|Q5JBS6|Q5JBS7|Q5JBS8|Q9HCS3	Missense_Mutation	SNP	ENST00000250160.6	37	c.263C>T	CCDS6371.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.807599	0.70797	.	.	ENSG00000104415	ENST00000250160;ENST00000517423;ENST00000220856	T;T;T	0.63744	-0.06;-0.06;-0.06	5.13	4.19	0.49359	5.13	4.19	0.49359	Insulin-like growth factor-binding protein, IGFBP (3);	0.211578	0.47852	D	0.000217	T	0.75012	0.3792	M	0.64404	1.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.989;0.938;0.963	T	0.77651	-0.2508	10	0.72032	D	0.01	-21.5098	13.4726	0.61290	0.157:0.843:0.0:0.0	.	88;88;88	E7EMM5;O95388-2;O95388	.;.;WISP1_HUMAN	M	88	ENSP00000250160:T88M;ENSP00000427744:T88M;ENSP00000220856:T88M	ENSP00000220856:T88M	T	+	2	0	0	WISP1	134294482	134294482	0.992000	0.36948	1.000000	0.80357	0.927000	0.56198	3.001000	0.49488	2.394000	0.81467	0.549000	0.68633	ACG		0.637	WISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378794.2		7.447712	3	3	75	75	NM_003882		5	12.942108	12.942108	35	0.125000	0	0	0	1	0	5	35	0.125
CDK3	1018	broad.mit.edu	37	17	73999371	73999371	+	Silent	SNP	C	C	T	rs141477491		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:73999371C>T	ENST00000425876.2	+	6	772	c.684C>T	c.(682-684)ccC>ccT	p.P228P	CDK3_ENST00000448471.1_Silent_p.P228P|TEN1-CDK3_ENST00000567351.1_RNA			Q00526	CDK3_HUMAN	cyclin-dependent kinase 3	228	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|G0 to G1 transition (GO:0045023)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			central_nervous_system(1)	1						ACACATGGCCCGGGGTCACCC	0.562																																						ENST00000425876.2											0			central_nervous_system(1)	1						c.(682-684)ccC>ccT	cyclin-dependent kinase 3	C		0,4406		0,0,2203	111.0	122.0	118.0		684	-3.8	0.8	17	dbSNP_134	118	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CDK3	NM_001258.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		228/306	73999371	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1018			cell division|cell proliferation|mitosis		ATP binding|cyclin-dependent protein kinase activity	g.chr17:73999371C>T	X66357	X66357	CCDS11736.1	CCDS11736.1	17q25.1	2012-09-20			2012-09-20			ENSG00000250506	ENSG00000250506	ENSG00000250506	ENSG00000250506		"""Cyclin-dependent kinases"""	"""Cyclin-dependent kinases"""	1772	1772	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			123828	123828						1639063	1639063	Standard	Standard	NM_001258	NM_001258		Approved		uc010dgt.3	uc010dgt.3	Q00526	Q00526	OTTHUMG00000154861	OTTHUMG00000154861	ENST00000425876.2:c.684C>T	17.37:g.73999371C>T			CDK3_ENST00000448471.1_Silent_p.P228P|TEN1-CDK3_ENST00000567351.1_RNA	p.P228P			Q00526	CDK3_HUMAN			6	772	+			228	Protein kinase.		Silent	SNP	ENST00000425876.2	37	c.684C>T	CCDS11736.1																																																																																									0.562	CDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337389.2		12.088511	-32	-32	109	109	NM_001258		10	25.292214	25.292214	79	0.112360	0	0	0	1	0	10	79	0.11236
RGAG4	340526	broad.mit.edu	37	X	71350832	71350832	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:71350832G>A	ENST00000545866.1	-	1	926	c.559C>T	c.(559-561)Cgg>Tgg	p.R187W	RGAG4_ENST00000609883.1_Missense_Mutation_p.R187W|NHSL2_ENST00000373677.1_5'Flank|NHSL2_ENST00000540800.1_Intron	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	187										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					AAGGCCACCCGCTCGGCGCCC	0.582																																						ENST00000545866.1											0			cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24						c.(559-561)Cgg>Tgg	retrotransposon gag domain containing 4						29.0	31.0	30.0					X																	71350832		1875	4088	5963	SO:0001583	missense	340526						g.chrX:71350832G>A	AB082532	AB082532	CCDS55446.1	CCDS55446.1	Xq13.1	2008-02-05			2008-02-05			ENSG00000242732	ENSG00000242732	ENSG00000242732	ENSG00000242732				29430	29430	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12056414, 15716091, 16093683	12056414, 15716091, 16093683	Standard	Standard	NM_001024455	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	uc004eaj.2	Q5HYW3	Q5HYW3	OTTHUMG00000021808	OTTHUMG00000021808	ENST00000545866.1:c.559C>T	X.37:g.71350832G>A	ENSP00000441366:p.Arg187Trp		RGAG4_ENST00000609883.1_Missense_Mutation_p.R187W|NHSL2_ENST00000540800.1_Intron	p.R187W	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN			1	926	-	Renal(35;0.156)		187		A7E2W7|Q8NCM4|Q9NPX1	Missense_Mutation	SNP	ENST00000545866.1	37	c.559C>T	CCDS55446.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.848301	0.51164	.	.	ENSG00000242732	ENST00000545866;ENST00000479991	T;T	0.16597	2.33;2.33	4.37	3.48	0.39840	4.37	3.48	0.39840	.	.	.	.	.	T	0.13415	0.0325	N	0.08118	0	0.09310	N	0.999995	D	0.76494	0.999	P	0.53146	0.719	T	0.13683	-1.0500	8	.	.	.	-2.2816	8.4173	0.32678	0.0:0.0:0.7679:0.2321	.	187	Q5HYW3	RGAG4_HUMAN	W	187	ENSP00000441366:R187W;ENSP00000418667:R187W	.	R	-	1	2	2	RGAG4	71267557	71267557	0.992000	0.36948	0.364000	0.25888	0.990000	0.78478	1.515000	0.35845	1.137000	0.42214	0.600000	0.82982	CGG		0.582	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1		5.011071	13	13	65	65	NM_001024455		6	12.839135	12.839135	47	0.113208	0	0	0	1	0	6	47	0.113208
EIF2AK2	5610	broad.mit.edu	37	2	37349797	37349797	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:37349797G>A	ENST00000233057.4	-	12	1241	c.919C>T	c.(919-921)Cgt>Tgt	p.R307C	EIF2AK2_ENST00000405334.1_Missense_Mutation_p.R266C|EIF2AK2_ENST00000395127.2_Missense_Mutation_p.R307C	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	307	Interaction with TRAF5.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|evasion or tolerance by virus of host immune response (GO:0030683)|innate immune response (GO:0045087)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production (GO:0001819)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of hematopoietic progenitor cell differentiation (GO:1901532)|regulation of hematopoietic stem cell differentiation (GO:1902036)|regulation of hematopoietic stem cell proliferation (GO:1902033)|regulation of NLRP3 inflammasome complex assembly (GO:1900225)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine kinase activity (GO:0004674)	p.R307C(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				TTTACTTCACGCTCCGCCTTC	0.408																																						ENST00000233057.4											1	Substitution - Missense(1)	pancreas(1)	breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22						c.(919-921)Cgt>Tgt	eukaryotic translation initiation factor 2-alpha kinase 2						138.0	127.0	131.0					2																	37349797		2203	4300	6503	SO:0001583	missense	5610			evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity	g.chr2:37349797G>A	BC057805	BC057805	CCDS1786.1, CCDS46259.1	CCDS1786.1, CCDS46259.1	2p22-p21	2014-06-12	2005-01-19	2005-01-19	2014-06-12	2005-01-19	2005-01-19	ENSG00000055332	ENSG00000055332	ENSG00000055332	ENSG00000055332				9437	9437	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 83"""	"""protein phosphatase 1, regulatory subunit 83"""	176871	176871	"""protein kinase, interferon-inducible double stranded RNA dependent"""	PRKR	"""protein kinase, interferon-inducible double stranded RNA dependent"""	PRKR		1351683	1351683	Standard	Standard	NM_001135651	NM_001135651		Approved	PKR, EIF2AK1, PPP1R83	uc010fac.3	uc010fac.3	P19525	P19525	OTTHUMG00000100962	OTTHUMG00000100962	ENST00000233057.4:c.919C>T	2.37:g.37349797G>A	ENSP00000233057:p.Arg307Cys		EIF2AK2_ENST00000405334.1_Missense_Mutation_p.R266C|EIF2AK2_ENST00000395127.2_Missense_Mutation_p.R307C	p.R307C	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN			12	1241	-		all_hematologic(82;0.248)	307	Protein kinase.	A8K3P0|D6W584|E9PC80|Q52M43|Q7Z6F6|Q9UIR4	Missense_Mutation	SNP	ENST00000233057.4	37	c.919C>T	CCDS1786.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.939260	0.73557	.	.	ENSG00000055332	ENST00000233057;ENST00000395127;ENST00000405334	T;T;T	0.55930	0.49;0.49;0.49	4.82	4.82	0.62117	4.82	4.82	0.62117	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.120830	0.37715	N	0.001974	T	0.75910	0.3914	M	0.90922	3.16	0.54753	D	0.999984	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.80665	-0.1281	10	0.87932	D	0	-13.7913	10.7482	0.46194	0.0899:0.0:0.9101:0.0	.	307;307;266	Q8IW76;P19525;E9PC80	.;E2AK2_HUMAN;.	C	307;307;266	ENSP00000233057:R307C;ENSP00000378559:R307C;ENSP00000385014:R266C	ENSP00000233057:R307C	R	-	1	0	0	EIF2AK2	37203301	37203301	0.956000	0.32656	0.917000	0.36280	0.262000	0.26303	4.446000	0.60014	2.388000	0.81334	0.585000	0.79938	CGT		0.408	EIF2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218571.2		55.344545	-12	-12	69	69	NM_002759		18	55.477332	55.477332	23	0.439024	0	0	0	1	0	18	23	0.439024
MFSD5	84975	broad.mit.edu	37	12	53647517	53647517	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:53647517C>T	ENST00000329548.4	+	2	1089	c.898C>T	c.(898-900)Cgt>Tgt	p.R300C	MFSD5_ENST00000534842.1_Missense_Mutation_p.R407C	NM_032889.4	NP_116278.3	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	300					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						TTCCCTGTACCGTATCGCCAC	0.567																																						ENST00000534842.1											0			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						c.(1219-1221)Cgt>Tgt	major facilitator superfamily domain containing 5						99.0	83.0	88.0					12																	53647517		2203	4300	6503	SO:0001583	missense	84975			transport	integral to membrane		g.chr12:53647517C>T	AK097576	AK097576	CCDS8851.1, CCDS53796.1	CCDS8851.1, CCDS53796.1	12q13.13	2012-03-09			2012-03-09			ENSG00000182544	ENSG00000182544	ENSG00000182544	ENSG00000182544				28156	28156	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_032889	NM_032889		Approved	MGC11308	uc001sch.2	uc001sch.2	Q6N075	Q6N075	OTTHUMG00000170028	OTTHUMG00000170028	ENST00000329548.4:c.898C>T	12.37:g.53647517C>T	ENSP00000332624:p.Arg300Cys		MFSD5_ENST00000329548.4_Missense_Mutation_p.R300C	p.R407C	NM_001170790.1	NP_001164261.1	Q6N075	MFSD5_HUMAN			2	1366	+			300		G3V1N7|Q6NW04|Q8N7W8|Q8NCK0|Q96IA5	Missense_Mutation	SNP	ENST00000329548.4	37	c.1219C>T	CCDS8851.1	.	.	.	.	.	.	.	.	.	.	C	9.754	1.168143	0.21621	.	.	ENSG00000182544	ENST00000551660;ENST00000534842;ENST00000328704;ENST00000329548	T;T	0.80566	-1.39;-1.39	5.04	4.15	0.48705	5.04	4.15	0.48705	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.75228	0.3821	L	0.59436	1.845	0.80722	D	1	B;B	0.30361	0.083;0.277	B;B	0.20767	0.031;0.026	T	0.75010	-0.3468	10	0.72032	D	0.01	-1.6626	12.4044	0.55430	0.0:0.9165:0.0:0.0835	.	300;407	Q6N075;G3V1N7	MFSD5_HUMAN;.	C	407;407;407;300	ENSP00000442688:R407C;ENSP00000332624:R300C	ENSP00000331231:R407C	R	+	1	0	0	MFSD5	51933784	51933784	1.000000	0.71417	0.998000	0.56505	0.225000	0.24961	7.564000	0.82326	1.129000	0.42072	-0.258000	0.10820	CGT		0.567	MFSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406896.1		1.969788	-4	-4	53	53	NM_032889		4	8.365446	8.365446	36	0.100000	0	0	0	1	0	4	36	0.1
DCAF12	25853	broad.mit.edu	37	9	34093293	34093293	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:34093293G>A	ENST00000361264.4	-	7	1356	c.1015C>T	c.(1015-1017)Cga>Tga	p.R339*	RP11-537H15.3_ENST00000448245.1_RNA	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	339					protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						CCACTGCCTCGCTCCCTGGAA	0.502																																						ENST00000361264.4											0			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						c.(1015-1017)Cga>Tga	DDB1 and CUL4 associated factor 12						148.0	125.0	133.0					9																	34093293		2203	4300	6503	SO:0001587	stop_gained	25853				centrosome|CUL4 RING ubiquitin ligase complex		g.chr9:34093293G>A	AB067479	AB067479	CCDS6549.1	CCDS6549.1	9p11.2	2013-01-09	2009-07-17	2009-07-17	2013-01-09	2009-07-17	2009-07-17	ENSG00000198876	ENSG00000198876	ENSG00000198876	ENSG00000198876		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	19911	19911	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""cancer/testis antigen 102"""	"""cancer/testis antigen 102"""			"""KIAA1892"", ""WD repeat domain 40A"""	KIAA1892, WDR40A	"""KIAA1892"", ""WD repeat domain 40A"""	KIAA1892, WDR40A		11572484, 9110174	11572484, 9110174	Standard	Standard	NM_015397	NM_015397		Approved	DKFZP434O125, MGC1058, CT102, TCC52	uc003ztt.2	uc003ztt.2	Q5T6F0	Q5T6F0	OTTHUMG00000019806	OTTHUMG00000019806	ENST00000361264.4:c.1015C>T	9.37:g.34093293G>A	ENSP00000355114:p.Arg339*		RP11-537H15.3_ENST00000448245.1_RNA	p.R339*	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN			7	1356	-			339		A8KA70|D3DRL6|Q5T6E9|Q5T6F1|Q6P3V0|Q7L4F8|Q96PZ5|Q9NXA9|Q9UFJ1	Nonsense_Mutation	SNP	ENST00000361264.4	37	c.1015C>T	CCDS6549.1	.	.	.	.	.	.	.	.	.	.	G	40	8.439080	0.98813	.	.	ENSG00000198876	ENST00000361264	.	.	.	5.75	2.8	0.32819	5.75	2.8	0.32819	.	0.124867	0.53938	D	0.000043	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-23.3755	14.8729	0.70471	0.0:0.0:0.6244:0.3756	.	.	.	.	X	339	.	ENSP00000355114:R339X	R	-	1	2	2	DCAF12	34083293	34083293	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	1.577000	0.36515	0.305000	0.22832	0.655000	0.94253	CGA		0.502	DCAF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052133.2		65.368894	6	6	68	68	NM_015397		21	65.586567	65.586567	28	0.428571	0	0	0	1	0	21	28	0.428571
CLEC18B	497190	broad.mit.edu	37	16	74452059	74452059	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:74452059C>T	ENST00000339953.5	-	3	475	c.354G>A	c.(352-354)gcG>gcA	p.A118A		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	118	SCP.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CAACAAAGGACGCCAAGCCCG	0.667																																						ENST00000339953.5											0			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(352-354)gcG>gcA	C-type lectin domain family 18, member B						57.0	62.0	60.0					16																	74452059		2108	4213	6321	SO:0001819	synonymous_variant	497190				extracellular region	sugar binding	g.chr16:74452059C>T	AY358373	AY358373	CCDS32484.1	CCDS32484.1	16q22.3	2010-04-27	2009-03-10	2009-03-10	2010-04-27	2009-03-10	2009-03-10		ENSG00000140839		ENSG00000140839		"""C-type lectin domain containing"""	"""C-type lectin domain containing"""	33849	33849	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001011880	NM_001011880		Approved		uc002fct.3	uc002fct.3	Q6UXF7	Q6UXF7			ENST00000339953.5:c.354G>A	16.37:g.74452059C>T				p.A118A	NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN			3	475	-			118	SCP.	B4DF90	Silent	SNP	ENST00000339953.5	37	c.354G>A	CCDS32484.1																																																																																									0.667	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434697.1		28.840616	15	15	34	34	NM_001011880		10	29.457562	29.457562	19	0.344828	0	0	0	1	0	10	19	0.344828
TBL2	26608	broad.mit.edu	37	7	72988286	72988286	+	Missense_Mutation	SNP	C	C	T	rs373074498		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:72988286C>T	ENST00000305632.5	-	3	669	c.428G>A	c.(427-429)cGc>cAc	p.R143H	TBL2_ENST00000452475.1_Missense_Mutation_p.R143H|TBL2_ENST00000432538.1_Missense_Mutation_p.R107H|TBL2_ENST00000459913.1_5'UTR	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	143							poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				AGGGCTGAAGCGCACCAGGGT	0.607																																						ENST00000305632.5											0			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19						c.(427-429)cGc>cAc	transducin (beta)-like 2	C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	103.0	81.0	88.0		428	5.3	1.0	7		88	0,8600		0,0,4300	no	missense	TBL2	NM_012453.2	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	143/448	72988286	2,13004	2203	4300	6503	SO:0001583	missense	26608						g.chr7:72988286C>T	AF056183	AF056183	CCDS5551.1	CCDS5551.1	7q11.23	2013-01-10			2013-01-10			ENSG00000106638	ENSG00000106638	ENSG00000106638	ENSG00000106638		"""WD repeat domain containing"""	"""WD repeat domain containing"""	11586	11586	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 13"""	"""Williams-Beuren syndrome chromosome region 13"""	605842	605842						9860302, 10575226	9860302, 10575226	Standard	Standard	XM_006715923	XM_006715923		Approved	WS-betaTRP, WBSCR13, DKFZP43N024	uc003tyh.3	uc003tyh.3	Q9Y4P3	Q9Y4P3	OTTHUMG00000023427	OTTHUMG00000023427	ENST00000305632.5:c.428G>A	7.37:g.72988286C>T	ENSP00000307260:p.Arg143His		TBL2_ENST00000452475.1_Missense_Mutation_p.R143H|TBL2_ENST00000432538.1_Missense_Mutation_p.R107H|TBL2_ENST00000459913.1_5'UTR	p.R143H	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN			3	669	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	143		Q9UQE2	Missense_Mutation	SNP	ENST00000305632.5	37	c.428G>A	CCDS5551.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011512	0.93346	4.54E-4	0.0	ENSG00000106638	ENST00000305632;ENST00000541783;ENST00000432538;ENST00000452475	T;T;T	0.30182	1.54;1.54;1.54	5.3	5.3	0.74995	5.3	5.3	0.74995	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.53965	0.1829	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.67382	0.951;0.951	T	0.54009	-0.8357	10	0.49607	T	0.09	-22.0223	16.4333	0.83861	0.0:1.0:0.0:0.0	.	107;143	E9PF19;Q9Y4P3	.;TBL2_HUMAN	H	143;143;107;143	ENSP00000307260:R143H;ENSP00000413979:R107H;ENSP00000407371:R143H	ENSP00000307260:R143H	R	-	2	0	0	TBL2	72626222	72626222	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.716000	0.84723	2.491000	0.84063	0.561000	0.74099	CGC		0.607	TBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252233.3		91.442470	9	9	96	96	NM_012453		30	91.601573	91.601573	37	0.447761	0	0	0	1	0	30	37	0.447761
GPR124	25960	broad.mit.edu	37	8	37698635	37698635	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr8:37698635G>A	ENST00000412232.2	+	19	2792	c.2779G>A	c.(2779-2781)Gcc>Acc	p.A927T	GPR124_ENST00000315215.7_Missense_Mutation_p.A710T	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	927					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			AAGCCTTGGCGCCTTCTACAT	0.627																																						ENST00000315215.7											0			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(2128-2130)Gcc>Acc	G protein-coupled receptor 124						107.0	116.0	113.0					8																	37698635		2203	4300	6503	SO:0001583	missense	25960			central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37698635G>A	AB040964	AB040964	CCDS6097.2	CCDS6097.2	8p11.22	2014-08-08			2014-08-08			ENSG00000020181	ENSG00000020181	ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	17849	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	"""tumor endothelial marker 5"""	606823	606823						11559528, 12565841	11559528, 12565841	Standard	Standard	NM_032777	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	uc003xkj.3	Q96PE1	Q96PE1	OTTHUMG00000156182	OTTHUMG00000156182	ENST00000412232.2:c.2779G>A	8.37:g.37698635G>A	ENSP00000406367:p.Ala927Thr		GPR124_ENST00000412232.2_Missense_Mutation_p.A927T	p.A710T			Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		16	2491	+			927	GPS.	A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	c.2128G>A	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	G	24.8	4.568480	0.86439	.	.	ENSG00000020181	ENST00000416514;ENST00000315215;ENST00000412232	T;T	0.44482	0.92;0.92	4.67	4.67	0.58626	4.67	4.67	0.58626	GPCR, family 2-like (1);	0.062185	0.64402	D	0.000004	T	0.69015	0.3064	M	0.86573	2.825	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.69142	0.962;0.919	T	0.77038	-0.2736	10	0.87932	D	0	-27.2058	17.575	0.87946	0.0:0.0:1.0:0.0	.	710;927	Q96PE1-2;Q96PE1	.;GP124_HUMAN	T	920;710;927	ENSP00000323508:A710T;ENSP00000406367:A927T	ENSP00000323508:A710T	A	+	1	0	0	GPR124	37817793	37817793	1.000000	0.71417	0.986000	0.45419	0.910000	0.53928	5.357000	0.66058	2.138000	0.66242	0.655000	0.94253	GCC		0.627	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2		0.357890	-17	-17	127	127			7	15.707095	15.707095	79	0.081395	0	0	0	1	0	7	79	0.081395
SLC22A14	9389	broad.mit.edu	37	3	38355294	38355294	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr3:38355294G>A	ENST00000273173.4	+	7	1331	c.1240G>A	c.(1240-1242)Gtg>Atg	p.V414M	SLC22A14_ENST00000448498.1_Missense_Mutation_p.V414M	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	414					organic cation transport (GO:0015695)	integral component of plasma membrane (GO:0005887)	organic cation transmembrane transporter activity (GO:0015101)			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CTTCAGACACGTGGTCCCCAG	0.567																																						ENST00000273173.4											0			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21						c.(1240-1242)Gtg>Atg	solute carrier family 22, member 14						136.0	129.0	131.0					3																	38355294		2203	4300	6503	SO:0001583	missense	9389				integral to plasma membrane	organic cation transmembrane transporter activity	g.chr3:38355294G>A	AB011082	AB011082	CCDS2677.1	CCDS2677.1	3p21.3	2013-05-22	2008-01-11	2003-10-15	2013-05-22	2008-01-11	2003-10-15	ENSG00000144671	ENSG00000144671	ENSG00000144671	ENSG00000144671		"""Solute carriers"""	"""Solute carriers"""	8495	8495	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604048	604048	"""organic cationic transporter-like 4"", ""solute carrier family 22 (organic cation transporter), member 14"""	ORCTL4	"""organic cationic transporter-like 4"", ""solute carrier family 22 (organic cation transporter), member 14"""	ORCTL4		10072596	10072596	Standard	Standard	NM_004803	NM_004803		Approved	OCTL2	uc003cib.2	uc003cib.2	Q9Y267	Q9Y267	OTTHUMG00000131082	OTTHUMG00000131082	ENST00000273173.4:c.1240G>A	3.37:g.38355294G>A	ENSP00000273173:p.Val414Met		SLC22A14_ENST00000448498.1_Missense_Mutation_p.V414M	p.V414M	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)	7	1331	+			414		A0AVS9|A1L4H6|B2RCX3|Q6DJT3	Missense_Mutation	SNP	ENST00000273173.4	37	c.1240G>A	CCDS2677.1	.	.	.	.	.	.	.	.	.	.	g	7.256	0.604299	0.14002	.	.	ENSG00000144671	ENST00000448498;ENST00000423219;ENST00000273173	T;T	0.75821	-0.97;-0.97	4.27	-8.54	0.00912	4.27	-8.54	0.00912	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.724340	0.03222	N	0.177768	T	0.57125	0.2032	L	0.43152	1.355	0.09310	N	1	P	0.38677	0.642	B	0.36378	0.223	T	0.55667	-0.8105	10	0.36615	T	0.2	.	1.2618	0.02003	0.4288:0.2274:0.1624:0.1814	.	414	Q9Y267	S22AE_HUMAN	M	414	ENSP00000396283:V414M;ENSP00000273173:V414M	ENSP00000273173:V414M	V	+	1	0	0	SLC22A14	38330298	38330298	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.731000	0.01853	-2.154000	0.00792	-1.501000	0.00957	GTG		0.567	SLC22A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253742.3		140.144586	2	2	113	113	NM_004803		38	141.80523	141.805230	1	0.974359	0	0	0	1	0	38	1	0.974359
SCAMP5	192683	broad.mit.edu	37	15	75310786	75310786	+	Silent	SNP	C	C	T	rs555923708	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr15:75310786C>T	ENST00000361900.6	+	7	630	c.423C>T	c.(421-423)ttC>ttT	p.F141F	SCAMP5_ENST00000568081.1_Silent_p.F74F|SCAMP5_ENST00000425597.3_Silent_p.F141F|SCAMP5_ENST00000562212.1_Silent_p.F149F|SCAMP5_ENST00000545456.1_Silent_p.F70F	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	141					exocytosis (GO:0006887)|negative regulation of endocytosis (GO:0045806)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of cytokine secretion (GO:0050715)|protein transport (GO:0015031)|response to endoplasmic reticulum stress (GO:0034976)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)|trans-Golgi network membrane (GO:0032588)				large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						TCTCCTTCTTCGGAACGAACA	0.587													C|||	2	0.000399361	0.0	0.0	5008	,	,		18008	0.0		0.0	False		,,,				2504	0.002					ENST00000361900.6											0			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						c.(421-423)ttC>ttT	secretory carrier membrane protein 5						148.0	138.0	141.0					15																	75310786		2013	4177	6190	SO:0001819	synonymous_variant	192683			exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding	g.chr15:75310786C>T	AL833230	AL833230	CCDS45306.1	CCDS45306.1	15q24.2	2014-05-20			2014-05-20			ENSG00000198794	ENSG00000198794	ENSG00000198794	ENSG00000198794		"""Secretory carrier membrane proteins"""	"""Secretory carrier membrane proteins"""	30386	30386	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613766	613766						12477932	12477932	Standard	Standard	NM_001178111	NM_001178111		Approved	MGC24969	uc002azk.2	uc002azk.2	Q8TAC9	Q8TAC9	OTTHUMG00000172704	OTTHUMG00000172704	ENST00000361900.6:c.423C>T	15.37:g.75310786C>T			SCAMP5_ENST00000562212.1_Silent_p.F149F|SCAMP5_ENST00000425597.3_Silent_p.F141F|SCAMP5_ENST00000568081.1_Silent_p.F74F|SCAMP5_ENST00000545456.1_Silent_p.F70F	p.F141F	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN			7	630	+			141		B3KPJ7|B7Z762|D3DW71|Q8N3M4	Silent	SNP	ENST00000361900.6	37	c.423C>T	CCDS45306.1																																																																																									0.587	SCAMP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420015.2		55.965165	-38	-38	167	167	NM_138967		26	69.139667	69.139667	115	0.184397	0	0	0	1	0	26	115	0.184397
DIDO1	11083	broad.mit.edu	37	20	61511261	61511261	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr20:61511261G>A	ENST00000266070.4	-	16	6372	c.6047C>T	c.(6046-6048)cCg>cTg	p.P2016L	DIDO1_ENST00000395343.1_Missense_Mutation_p.P2016L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2016	Pro-rich.				apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CATCACCTGCGGGGCCTGGCC	0.687																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4											0			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(6046-6048)cCg>cTg	death inducer-obliterator 1						36.0	47.0	44.0					20																	61511261		2177	4264	6441	SO:0001583	missense	11083			apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61511261G>A	AB002331	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	"""Zinc fingers, PHD-type"""	2680	2680	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604140	604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	10393935	Standard	Standard	NM_033081	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	uc002ydr.2	Q9BTC0	Q9BTC0	OTTHUMG00000032945	OTTHUMG00000032945	ENST00000266070.4:c.6047C>T	20.37:g.61511261G>A	ENSP00000266070:p.Pro2016Leu		DIDO1_ENST00000395343.1_Missense_Mutation_p.P2016L	p.P2016L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	6372	-	Breast(26;5.68e-08)		2016	Pro-rich.	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.6047C>T	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	8.112	0.778986	0.16120	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.09255	3.0;3.0	4.94	3.92	0.45320	4.94	3.92	0.45320	.	1.080270	0.07312	N	0.876107	T	0.09512	0.0234	L	0.36672	1.1	0.19300	N	0.99998	P	0.50819	0.939	B	0.34242	0.178	T	0.28299	-1.0048	10	0.62326	D	0.03	-1.6771	12.2577	0.54633	0.0:0.0:0.7274:0.2726	.	2016	Q9BTC0	DIDO1_HUMAN	L	2016	ENSP00000266070:P2016L;ENSP00000378752:P2016L	ENSP00000266070:P2016L	P	-	2	0	0	DIDO1	60981706	60981706	0.822000	0.29219	0.029000	0.17559	0.088000	0.18126	2.359000	0.44142	2.277000	0.76020	0.561000	0.74099	CCG		0.687	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2		96.015998	-8	-8	120	120	NM_080796		31	96.376796	96.376796	42	0.424658	0	0	0	1	0	31	42	0.424658
DNAH7	56171	broad.mit.edu	37	2	196788444	196788444	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:196788444C>T	ENST00000312428.6	-	23	3800	c.3700G>A	c.(3700-3702)Gta>Ata	p.V1234I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1234	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.V1234L(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CCCAGAGTTACGCGATTCTGC	0.398																																						ENST00000312428.6											1	Substitution - Missense(1)	lung(1)	NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(3700-3702)Gta>Ata	dynein, axonemal, heavy chain 7						122.0	113.0	116.0					2																	196788444		1972	4163	6135	SO:0001583	missense	56171			ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196788444C>T	AF327442	AF327442	CCDS42794.1	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997	ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	18661	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610061	610061	"""dynein, axonemal, heavy polypeptide 7"""		"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	9373155, 11877439	Standard	Standard	NM_018897	NM_018897		Approved	KIAA0944	uc002utj.4	uc002utj.4	Q8WXX0	Q8WXX0	OTTHUMG00000154438	OTTHUMG00000154438	ENST00000312428.6:c.3700G>A	2.37:g.196788444C>T	ENSP00000311273:p.Val1234Ile			p.V1234I	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			23	3800	-			1234	Stem (By similarity).	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.3700G>A	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	1.908	-0.451426	0.04572	.	.	ENSG00000118997	ENST00000312428	T	0.54675	0.56	5.03	5.03	0.67393	5.03	5.03	0.67393	.	0.000000	0.64402	D	0.000001	T	0.31040	0.0784	N	0.05330	-0.07	0.80722	D	1	B	0.20780	0.048	B	0.14578	0.011	T	0.26815	-1.0092	10	0.02654	T	1	.	18.7284	0.91724	0.0:1.0:0.0:0.0	.	1234	Q8WXX0	DYH7_HUMAN	I	1234	ENSP00000311273:V1234I	ENSP00000311273:V1234I	V	-	1	0	0	DNAH7	196496689	196496689	1.000000	0.71417	0.995000	0.50966	0.235000	0.25334	5.690000	0.68241	2.494000	0.84150	0.655000	0.94253	GTA		0.398	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3		27.965860	-32	-32	56	56	NM_018897		12	33.19208	33.192080	49	0.196721	0	0	0	1	0	12	49	0.196721
MUC16	94025	broad.mit.edu	37	19	9091523	9091523	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:9091523C>T	ENST00000397910.4	-	1	495	c.292G>A	c.(292-294)Gag>Aag	p.E98K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	98	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTTCTTTGCTCGGAGTGTGTC	0.542																																						ENST00000397910.4											0			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(292-294)Gag>Aag	mucin 16, cell surface associated						137.0	134.0	135.0					19																	9091523		1982	4166	6148	SO:0001583	missense	94025			cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9091523C>T	AF414442	AF414442	CCDS54212.1	CCDS54212.1	19p13.2	2008-02-05	2006-03-14		2008-02-05	2006-03-14			ENSG00000181143		ENSG00000181143		"""Mucins"""	"""Mucins"""	15582	15582	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606154	606154						11369781	11369781	Standard	Standard	XM_006722941	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	uc002mkp.3	Q8WXI7	Q8WXI7			ENST00000397910.4:c.292G>A	19.37:g.9091523C>T	ENSP00000381008:p.Glu98Lys			p.E98K	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	495	-			98	Thr-rich.	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.292G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	5.368	0.253081	0.10185	.	.	ENSG00000181143	ENST00000397910	T	0.02682	4.2	1.01	-0.119	0.13543	1.01	-0.119	0.13543	.	.	.	.	.	T	0.01489	0.0048	N	0.08118	0	.	.	.	B	0.27679	0.185	B	0.14023	0.01	T	0.44112	-0.9349	8	0.87932	D	0	.	3.4185	0.07385	0.0:0.7053:0.0:0.2947	.	98	B5ME49	.	K	98	ENSP00000381008:E98K	ENSP00000381008:E98K	E	-	1	0	0	MUC16	8952523	8952523	0.000000	0.05858	0.000000	0.03702	0.179000	0.23085	-1.277000	0.02812	0.010000	0.14839	0.313000	0.20887	GAG		0.542	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		-5.653190	7	7	97	97	NM_024690		4	8.480014	8.480014	65	0.057971	0	0	0	1	0	4	65	0.057971
MBTPS2	51360	broad.mit.edu	37	X	21886609	21886609	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:21886609C>T	ENST00000379484.5	+	6	794	c.695C>T	c.(694-696)gCa>gTa	p.A232V	MBTPS2_ENST00000365779.2_Missense_Mutation_p.A232V	NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	232					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						TTTGTCCTTGCACTCTTGGGT	0.433																																						ENST00000365779.2											0			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						c.(694-696)gCa>gTa	membrane-bound transcription factor peptidase, site 2						348.0	321.0	330.0					X																	21886609		2203	4300	6503	SO:0001583	missense	51360			cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity	g.chrX:21886609C>T	AF019612	AF019612	CCDS14201.1	CCDS14201.1	Xp22.12-p22.11	2014-02-03	2005-08-17		2014-02-03	2005-08-17		ENSG00000012174	ENSG00000012174	ENSG00000012174	ENSG00000012174				15455	15455	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300294	300294	"""membrane-bound transcription factor protease, site 2"", ""keratosis follicularis spinulosa decalvans"""	KFSD	"""membrane-bound transcription factor protease, site 2"", ""keratosis follicularis spinulosa decalvans"""	KFSD		9847074, 9659902, 20672378	9847074, 9659902, 20672378	Standard	Standard	NM_015884	NM_015884		Approved	S2P	uc004dae.3	uc004dae.3	O43462	O43462	OTTHUMG00000021237	OTTHUMG00000021237	ENST00000379484.5:c.695C>T	X.37:g.21886609C>T	ENSP00000368798:p.Ala232Val		MBTPS2_ENST00000379484.5_Missense_Mutation_p.A232V	p.A232V			O43462	MBTP2_HUMAN			6	776	+			232		Q9UM70|Q9UMD3	Missense_Mutation	SNP	ENST00000379484.5	37	c.695C>T	CCDS14201.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.677965	0.47886	.	.	ENSG00000012174	ENST00000379484;ENST00000365779	D;D	0.94576	-3.46;-3.46	5.78	4.91	0.64330	5.78	4.91	0.64330	Peptidase M50 (1);	0.101073	0.64402	D	0.000002	D	0.91513	0.7320	L	0.49640	1.575	0.40838	D	0.983649	B;B	0.27932	0.062;0.194	B;B	0.26202	0.023;0.067	D	0.89855	0.4012	10	0.45353	T	0.12	-18.5893	12.1482	0.54036	0.0:0.5354:0.4646:0.0	.	232;232	O43462;B9ZVQ3	MBTP2_HUMAN;.	V	232	ENSP00000368798:A232V;ENSP00000368796:A232V	ENSP00000368796:A232V	A	+	2	0	0	MBTPS2	21796530	21796530	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.020000	0.64066	2.433000	0.82419	0.544000	0.68410	GCA		0.433	MBTPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056026.1		-25.587769	-65	-65	256	256			6	11.181034	11.181034	153	0.037736	0	0	0	1	0	6	153	0.037736
E2F7	144455	broad.mit.edu	37	12	77417851	77417851	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:77417851G>A	ENST00000322886.7	-	13	2915	c.2680C>T	c.(2680-2682)Cga>Tga	p.R894*	E2F7_ENST00000416496.2_3'UTR	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	894					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CTGGTGTTTCGTGACTGGTTC	0.587																																						ENST00000322886.7											0			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						c.(2680-2682)Cga>Tga	E2F transcription factor 7						132.0	131.0	131.0					12																	77417851		2203	4300	6503	SO:0001587	stop_gained	144455			cell cycle	transcription factor complex	DNA binding|identical protein binding	g.chr12:77417851G>A	BC016658	BC016658	CCDS9016.1	CCDS9016.1	12q21.1	2008-02-05			2008-02-05				ENSG00000165891		ENSG00000165891				23820	23820	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612046	612046						12893818	12893818	Standard	Standard	NM_203394	NM_203394		Approved		uc001sym.4	uc001sym.4	Q96AV8	Q96AV8	OTTHUMG00000169969	OTTHUMG00000169969	ENST00000322886.7:c.2680C>T	12.37:g.77417851G>A	ENSP00000323246:p.Arg894*		E2F7_ENST00000416496.2_3'UTR	p.R894*	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN			13	2915	-			894		A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Nonsense_Mutation	SNP	ENST00000322886.7	37	c.2680C>T	CCDS9016.1	.	.	.	.	.	.	.	.	.	.	G	41	8.653156	0.98901	.	.	ENSG00000165891	ENST00000322886;ENST00000339887	.	.	.	6.17	4.19	0.49359	6.17	4.19	0.49359	.	0.208419	0.37761	N	0.001945	.	.	.	.	.	.	0.31184	N	0.701703	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.6583	11.7552	0.51872	0.0:0.0:0.5586:0.4414	.	.	.	.	X	894;365	.	ENSP00000323246:R894X	R	-	1	2	2	E2F7	75941982	75941982	0.993000	0.37304	0.444000	0.26895	0.725000	0.41563	2.762000	0.47597	1.600000	0.50102	0.655000	0.94253	CGA		0.587	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1		58.359501	-14	-14	134	134	XM_084871		22	62.470426	62.470426	61	0.265060	0	0	0	1	0	22	61	0.26506
PRRC2A	7916	broad.mit.edu	37	6	31593371	31593371	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:31593371G>A	ENST00000376033.2	+	7	976	c.742G>A	c.(742-744)Gga>Aga	p.G248R	SNORA38_ENST00000363946.1_RNA|PRRC2A_ENST00000469577.1_3'UTR|PRRC2A_ENST00000376007.4_Missense_Mutation_p.G248R	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	248	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.G248fs*2(1)		breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TCCCTACCGCGGAATGATGCC	0.557																																						ENST00000376033.2											1	Deletion - Frameshift(1)	lung(1)	breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(742-744)Gga>Aga	proline-rich coiled-coil 2A						91.0	88.0	89.0					6																	31593371		2203	4300	6503	SO:0001583	missense	7916				cytoplasm|nucleus	protein binding	g.chr6:31593371G>A	M31293	M31293	CCDS4708.1	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469	ENSG00000204469	ENSG00000204469				13918	13918	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			142580	142580	"""HLA-B associated transcript 2"""	BAT2	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	2156268, 8499947	Standard	Standard	NM_080686	NM_080686		Approved	G2, D6S51E	uc003nvc.4	uc003nvc.4	P48634	P48634	OTTHUMG00000031168	OTTHUMG00000031168	ENST00000376033.2:c.742G>A	6.37:g.31593371G>A	ENSP00000365201:p.Gly248Arg		PRRC2A_ENST00000469577.1_3'UTR|PRRC2A_ENST00000376007.4_Missense_Mutation_p.G248R	p.G248R	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			7	976	+			248	4 X 57 AA type A repeats.	B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.742G>A	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.587932	0.46110	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033	T;T	0.01871	4.59;4.59	5.06	5.06	0.68205	5.06	5.06	0.68205	.	0.000000	0.50627	D	0.000108	T	0.06050	0.0157	L	0.50333	1.59	0.58432	D	0.999997	D	0.89917	1.0	D	0.77004	0.989	T	0.29731	-1.0002	10	0.87932	D	0	-9.9248	17.3477	0.87314	0.0:0.0:1.0:0.0	.	248	P48634	PRC2A_HUMAN	R	248	ENSP00000365175:G248R;ENSP00000365201:G248R	ENSP00000365175:G248R	G	+	1	0	0	PRRC2A	31701350	31701350	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.223000	0.89779	2.628000	0.89032	0.655000	0.94253	GGA		0.557	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1		52.403261	-3	-3	53	53	NM_080686		16	52.470917	52.470917	13	0.551724	0	0	0	1	0	16	13	0.551724
ESPNP	284729	broad.mit.edu	37	1	17023064	17023064	+	RNA	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:17023064C>T	ENST00000492551.1	-	0	1799					NR_026567.1				espin pseudogene																		GCACCCCCGGCGCAGGAGTAG	0.677																																						ENST00000492551.1											0																																																0						g.chr1:17023064C>T	AL035288	AL035288			1p36.13	2013-05-22			2013-05-22			ENSG00000268869	ENSG00000268869	ENSG00000268869	ENSG00000268869				23285	23285	pseudogene	pseudogene	pseudogene	pseudogene										15286153	15286153	Standard	Standard	NR_026567	NR_026567		Approved		uc001azn.1	uc001azn.1			OTTHUMG00000000803	OTTHUMG00000000803		1.37:g.17023064C>T					NR_026567.1						0	1799	-						RNA	SNP	ENST00000492551.1	37																																																																																											0.677	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1		5.113285	-1	-1	24	24			3	6.793015	6.793015	14	0.176471	0	0	0	1	0	3	14	0.176471
PDE6B	5158	broad.mit.edu	37	4	647752	647752	+	Missense_Mutation	SNP	G	G	A	rs199768318		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr4:647752G>A	ENST00000496514.1	+	4	844	c.823G>A	c.(823-825)Gtg>Atg	p.V275M	RP11-1191J2.2_ENST00000599030.1_RNA|PDE6B_ENST00000429163.2_5'UTR|PDE6B_ENST00000255622.6_Missense_Mutation_p.V275M|RP11-1191J2.2_ENST00000468356.1_RNA|RP11-1191J2.2_ENST00000489312.1_RNA|RP11-1191J2.2_ENST00000598370.1_RNA			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	275	GAF 2.				cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	GCGGTACTCCGTGGGCCTCCT	0.647																																					GBM(71;463 1194 9848 25922 46834)	ENST00000255622.6											0			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						c.(823-825)Gtg>Atg	phosphodiesterase 6B, cGMP-specific, rod, beta						93.0	79.0	84.0					4																	647752		2203	4300	6503	SO:0001583	missense	5158			cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr4:647752G>A	BC000249	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	ENSG00000133256	ENSG00000133256	3.1.4.17	"""Phosphodiesterases"""	"""Phosphodiesterases"""	8786	8786	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""congenital stationary night blindness 3, autosomal dominant"""	"""congenital stationary night blindness 3, autosomal dominant"""	180072	180072		PDEB		PDEB		1313787	1313787	Standard	Standard	NM_001145292	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	uc003gap.3	P35913	P35913	OTTHUMG00000159909	OTTHUMG00000159909	ENST00000496514.1:c.823G>A	4.37:g.647752G>A	ENSP00000420295:p.Val275Met		PDE6B_ENST00000429163.2_5'UTR|RP11-1191J2.2_ENST00000489312.1_RNA|PDE6B_ENST00000496514.1_Missense_Mutation_p.V275M|RP11-1191J2.2_ENST00000468356.1_RNA	p.V275M	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763	P35913	PDE6B_HUMAN			4	866	+			275	GAF 2.	B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Missense_Mutation	SNP	ENST00000496514.1	37	c.823G>A	CCDS33932.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.674935	0.67928	.	.	ENSG00000133256	ENST00000255622;ENST00000496514	T;T	0.72167	-0.63;-0.63	5.26	5.26	0.73747	5.26	5.26	0.73747	GAF (2);	0.000000	0.85682	D	0.000000	D	0.85986	0.5825	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.985	D	0.88489	0.3074	10	0.87932	D	0	.	16.3608	0.83267	0.0:0.0:1.0:0.0	.	275;275	P35913;P35913-2	PDE6B_HUMAN;.	M	275	ENSP00000255622:V275M;ENSP00000420295:V275M	ENSP00000255622:V275M	V	+	1	0	0	PDE6B	637752	637752	1.000000	0.71417	0.945000	0.38365	0.059000	0.15707	9.447000	0.97595	2.449000	0.82847	0.561000	0.74099	GTG		0.647	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1		15.137316	-23	-23	58	58	NM_000283		6	16.863703	16.863703	20	0.230769	0	0	0	1	0	6	20	0.230769
NLRP4	147945	broad.mit.edu	37	19	56369494	56369494	+	Silent	SNP	G	G	A	rs545483573		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:56369494G>A	ENST00000301295.6	+	3	1157	c.735G>A	c.(733-735)tcG>tcA	p.S245S	NLRP4_ENST00000587891.1_Silent_p.S170S|NLRP4_ENST00000346986.5_Silent_p.S245S	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	245	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AACCCGATTCGGATCTGTGTG	0.562													G|||	1	0.000199681	0.0	0.0	5008	,	,		17454	0.0		0.0	False		,,,				2504	0.001					ENST00000301295.6											0			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(733-735)tcG>tcA	NLR family, pyrin domain containing 4						80.0	84.0	82.0					19																	56369494		2203	4300	6503	SO:0001819	synonymous_variant	147945					ATP binding	g.chr19:56369494G>A	AF479747	AF479747	CCDS12936.1	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08	2009-03-27	2006-12-08	2006-12-08						"""Nucleotide-binding domain and leucine rich repeat containing"""	"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	22943	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	12563287, 12019269	Standard	Standard	NM_134444	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	uc002qmd.4	Q96MN2	Q96MN2			ENST00000301295.6:c.735G>A	19.37:g.56369494G>A			NLRP4_ENST00000587891.1_Silent_p.S170S|NLRP4_ENST00000346986.5_Silent_p.S245S	p.S245S	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	1157	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	245	NACHT.	Q86W87|Q96AY6	Silent	SNP	ENST00000301295.6	37	c.735G>A	CCDS12936.1																																																																																									0.562	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2		82.952827	-4	-4	101	101	NM_134444		26	83.014015	83.014015	30	0.464286	0	0	0	1	0	26	30	0.464286
CCAR1	55749	broad.mit.edu	37	10	70516034	70516034	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr10:70516034C>T	ENST00000265872.6	+	14	1749	c.1630C>T	c.(1630-1632)Cgt>Tgt	p.R544C	CCAR1_ENST00000543719.1_Missense_Mutation_p.R529C|SNORD98_ENST00000408255.1_RNA|CCAR1_ENST00000483264.1_3'UTR|CCAR1_ENST00000535016.1_Missense_Mutation_p.R529C	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	544					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						CAACAGGTACCGTTTTGCAGA	0.423																																						ENST00000265872.6											0			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						c.(1630-1632)Cgt>Tgt	cell division cycle and apoptosis regulator 1						106.0	103.0	104.0					10																	70516034		2203	4300	6503	SO:0001583	missense	55749			apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding	g.chr10:70516034C>T	AY249140	AY249140	CCDS7282.1, CCDS60547.1	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			2004-02-19			ENSG00000060339	ENSG00000060339	ENSG00000060339	ENSG00000060339				24236	24236	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612569	612569						12816952	12816952	Standard	Standard	NM_018237	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	uc001joo.3	Q8IX12	Q8IX12	OTTHUMG00000018361	OTTHUMG00000018361	ENST00000265872.6:c.1630C>T	10.37:g.70516034C>T	ENSP00000265872:p.Arg544Cys		CCAR1_ENST00000543719.1_Missense_Mutation_p.R529C|CCAR1_ENST00000535016.1_Missense_Mutation_p.R529C|CCAR1_ENST00000483264.1_3'UTR	p.R544C	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN			14	1749	+			544		A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Missense_Mutation	SNP	ENST00000265872.6	37	c.1630C>T	CCDS7282.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.533655	0.45073	.	.	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000543225;ENST00000536012	T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69	5.38	5.38	0.77491	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.73776	0.3630	M	0.85373	2.75	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.994;0.998;0.992	T	0.78316	-0.2251	10	0.87932	D	0	-4.7661	19.1212	0.93364	0.0:1.0:0.0:0.0	.	529;544;518	Q8IX12-2;Q8IX12;F5H2E6	.;CCAR1_HUMAN;.	C	544;529;529;529;518;349	ENSP00000265872:R544C;ENSP00000441820:R529C;ENSP00000445254:R529C;ENSP00000439252:R529C;ENSP00000438610:R518C;ENSP00000439642:R349C	ENSP00000265872:R544C	R	+	1	0	0	CCAR1	70186040	70186040	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.725000	0.84808	2.533000	0.85409	0.585000	0.79938	CGT		0.423	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2		3.303783	21	21	57	57	NM_018237		3	7.591851	7.591851	25	0.107143	0	0	0	1	0	3	25	0.107143
SPG7	6687	broad.mit.edu	37	16	89614493	89614493	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:89614493C>T	ENST00000268704.2	+	12	1650	c.1635C>T	c.(1633-1635)ttC>ttT	p.F545F		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	545			F -> L. {ECO:0000269|PubMed:16534102}.		anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		CTCTCAACTTCGAGTACGCCG	0.627																																						ENST00000268704.2											0			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20						c.(1633-1635)ttC>ttT	spastic paraplegia 7 (pure and complicated autosomal recessive)						97.0	87.0	90.0					16																	89614493		2198	4300	6498	SO:0001819	synonymous_variant	6687			cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr16:89614493C>T	Y16610	Y16610	CCDS10977.1, CCDS10978.1	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912	ENSG00000197912	ENSG00000197912		"""ATPases / AAA-type"""	"""ATPases / AAA-type"""	11237	11237	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""paraplegin"""	"""paraplegin"""	602783	602783	"""cell matrix adhesion regulator"""	CMAR	"""cell matrix adhesion regulator"""	CMAR		9635427, 9634528	9635427, 9634528	Standard	Standard	XM_006721264	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	uc002fnj.3	Q9UQ90	Q9UQ90	OTTHUMG00000138046	OTTHUMG00000138046	ENST00000268704.2:c.1635C>T	16.37:g.89614493C>T				p.F545F	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)	12	1650	+		all_hematologic(23;0.00824)|Colorectal(91;0.102)	545		O75756|Q2TB70|Q58F00|Q96IB0	Silent	SNP	ENST00000268704.2	37	c.1635C>T	CCDS10977.1	.	.	.	.	.	.	.	.	.	.	C	9.278	1.047297	0.19827	.	.	ENSG00000197912	ENST00000312613	.	.	.	5.47	-5.4	0.02656	5.47	-5.4	0.02656	.	.	.	.	.	T	0.66036	0.2749	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71922	-0.4446	5	0.87932	D	0	-0.0792	10.9495	0.47321	0.0:0.1874:0.0991:0.7135	.	.	.	.	L	20	.	ENSP00000310320:S20L	S	+	2	0	0	SPG7	88141994	88141994	0.084000	0.21492	0.873000	0.34254	0.599000	0.36880	-0.747000	0.04823	-0.750000	0.04740	0.561000	0.74099	TCG		0.627	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2		33.314643	-20	-20	81	81	NM_003119		14	38.766676	38.766676	54	0.205882	0	0	0	1	0	14	54	0.205882
ZCCHC2	54877	broad.mit.edu	37	18	60242302	60242302	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr18:60242302C>T	ENST00000269499.5	+	13	3406	c.2988C>T	c.(2986-2988)aaC>aaT	p.N996N	ZCCHC2_ENST00000586834.1_Silent_p.N675N	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	996						cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GGAACACGAACGCTAATGGGA	0.597																																						ENST00000269499.5											0			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(2986-2988)aaC>aaT	zinc finger, CCHC domain containing 2						80.0	88.0	86.0					18																	60242302		2149	4251	6400	SO:0001819	synonymous_variant	54877			cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr18:60242302C>T	AB051531	AB051531	CCDS45880.1	CCDS45880.1	18q21.33	2012-04-19			2012-04-19			ENSG00000141664	ENSG00000141664	ENSG00000141664	ENSG00000141664		"""Zinc fingers, CCHC domain containing"""	"""Zinc fingers, CCHC domain containing"""	22916	22916	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""chromosome 18 open reading frame 49"""	C18orf49	"""chromosome 18 open reading frame 49"""	C18orf49		11214970	11214970	Standard	Standard	NM_017742	NM_017742		Approved	FLJ20281, KIAA1744, FLJ20222	uc002lip.4	uc002lip.4	Q9C0B9	Q9C0B9			ENST00000269499.5:c.2988C>T	18.37:g.60242302C>T			ZCCHC2_ENST00000586834.1_Silent_p.N675N	p.N996N	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN			13	3406	+			996		B2RPG6|Q8N3S1|Q9NXF6	Silent	SNP	ENST00000269499.5	37	c.2988C>T	CCDS45880.1																																																																																									0.597	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450083.1		9.589140	-16	-16	26	26	NM_017742		4	11.062169	11.062169	15	0.210526	0	0	0	1	0	4	15	0.210526
SLC6A9	6536	broad.mit.edu	37	1	44463572	44463572	+	Silent	SNP	G	G	A	rs145370858		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:44463572G>A	ENST00000360584.2	-	13	2072	c.1881C>T	c.(1879-1881)taC>taT	p.Y627Y	SLC6A9_ENST00000372306.3_Intron|SLC6A9_ENST00000372310.3_Silent_p.Y554Y|SLC6A9_ENST00000357730.2_Silent_p.Y573Y|SLC6A9_ENST00000475075.2_Silent_p.Y443Y|SLC6A9_ENST00000372307.3_Intron	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	627					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GGAACATGGCGTAGAGGGGGA	0.637																																						ENST00000372310.3											0			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22						c.(1660-1662)taC>taT	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	G	,,	1,4405	2.1+/-5.4	0,1,2202	112.0	111.0	111.0		1662,1719,1881	-5.3	0.9	1	dbSNP_134	111	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC6A9	NM_001024845.1,NM_006934.2,NM_201649.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	554/634,573/653,627/707	44463572	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6536				integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr1:44463572G>A	S70609	S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			2013-05-22			ENSG00000196517	ENSG00000196517	ENSG00000196517	ENSG00000196517		"""Solute carriers"""	"""Solute carriers"""	11056	11056	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601019	601019						8183239, 7587377	8183239, 7587377	Standard	Standard	NM_006934	NM_006934		Approved	GLYT1	uc001cll.4	uc001cll.4	P48067	P48067	OTTHUMG00000008294	OTTHUMG00000008294	ENST00000360584.2:c.1881C>T	1.37:g.44463572G>A			SLC6A9_ENST00000360584.2_Silent_p.Y627Y|SLC6A9_ENST00000475075.2_Silent_p.Y443Y|SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000372306.3_Intron|SLC6A9_ENST00000357730.2_Silent_p.Y573Y	p.Y554Y	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN			13	1827	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	627		A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Silent	SNP	ENST00000360584.2	37	c.1662C>T	CCDS41317.1																																																																																									0.637	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000022825.2		8.388036	-2	-2	44	44	NM_201649		4	10.062871	10.062871	16	0.200000	0	0	0	1	0	4	16	0.2
LPA	4018	broad.mit.edu	37	6	161027540	161027540	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:161027540C>T	ENST00000316300.5	-	17	2798	c.2754G>A	c.(2752-2754)ccG>ccA	p.P918P	LPA_ENST00000447678.1_Silent_p.P918P			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3426	Kringle 8. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GGCTTGGAATCGGGGTAATAG	0.527																																						ENST00000447678.1											0			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(2752-2754)ccG>ccA	lipoprotein, Lp(a)						95.0	97.0	96.0					6																	161027540		1979	4213	6192	SO:0001819	synonymous_variant	4018			blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161027540C>T	X06290	X06290	CCDS43523.1	CCDS43523.1	6q25-q26	2012-10-02			2012-10-02			ENSG00000198670	ENSG00000198670	ENSG00000198670	ENSG00000198670				6667	6667	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			152200	152200		LP		LP		3670400	3670400	Standard	Standard	NM_005577	NM_005577		Approved		uc003qtl.3	uc003qtl.3	P08519	P08519	OTTHUMG00000015956	OTTHUMG00000015956	ENST00000316300.5:c.2754G>A	6.37:g.161027540C>T			LPA_ENST00000316300.5_Silent_p.P918P	p.P918P	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	18	2874	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3426	Kringle 8.	Q5VTD7|Q9UD88	Silent	SNP	ENST00000316300.5	37	c.2754G>A	CCDS43523.1																																																																																									0.527	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1		-12.178249	10	10	138	138	NM_005577		4	7.808217	7.808217	86	0.044444	0	0	0	1	0	4	86	0.044444
ZNF546	339327	broad.mit.edu	37	19	40521032	40521032	+	Nonsense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:40521032C>T	ENST00000347077.4	+	7	2071	c.1855C>T	c.(1855-1857)Cga>Tga	p.R619*	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Nonsense_Mutation_p.R593*	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	619					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)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GAAAGCCTTTCGATTTCAAAC	0.358																																						ENST00000347077.4											0			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34						c.(1855-1857)Cga>Tga	zinc finger protein 546						45.0	48.0	47.0					19																	40521032		2203	4300	6503	SO:0001587	stop_gained	339327			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40521032C>T	BC045649	BC045649	CCDS12548.1	CCDS12548.1	19q13.2	2013-01-08			2013-01-08				ENSG00000187187		ENSG00000187187		"""Zinc fingers, C2H2-type"", ""-"""	"""Zinc fingers, C2H2-type"", ""-"""	28671	28671	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product						ZNF49		ZNF49		12477932	12477932	Standard	Standard	XM_005258853	XM_005258853		Approved	MGC43537	uc002oms.2	uc002oms.2	Q86UE3	Q86UE3			ENST00000347077.4:c.1855C>T	19.37:g.40521032C>T	ENSP00000339823:p.Arg619*		ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Nonsense_Mutation_p.R593*	p.R619*	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN			7	2071	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		619		A8K913	Nonsense_Mutation	SNP	ENST00000347077.4	37	c.1855C>T	CCDS12548.1	.	.	.	.	.	.	.	.	.	.	c	37	6.084811	0.97267	.	.	ENSG00000187187	ENST00000347077;ENST00000392042	.	.	.	2.91	-0.341	0.12639	2.91	-0.341	0.12639	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	6.3833	0.21546	0.326:0.5006:0.1734:0.0	.	.	.	.	X	619;228	.	ENSP00000339823:R619X	R	+	1	2	2	ZNF546	45212872	45212872	0.000000	0.05858	0.100000	0.21137	0.971000	0.66376	-2.524000	0.00948	0.004000	0.14682	0.591000	0.81541	CGA		0.358	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2		23.793081	-9	-9	40	40	NM_178544		8	24.263182	24.263182	15	0.347826	0	0	0	1	0	8	15	0.347826
TRAF3	7187	broad.mit.edu	37	14	103371684	103371684	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr14:103371684G>A	ENST00000560371.1	+	11	1487	c.1270G>A	c.(1270-1272)Gac>Aac	p.D424N	TRAF3_ENST00000539721.1_Missense_Mutation_p.D341N|TRAF3_ENST00000347662.4_Missense_Mutation_p.D399N|TRAF3_ENST00000392745.2_Missense_Mutation_p.D424N|TRAF3_ENST00000351691.5_Missense_Mutation_p.D399N	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	424	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				apoptotic process (GO:0006915)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|regulation of apoptotic process (GO:0042981)|regulation of cytokine production (GO:0001817)|regulation of defense response to virus (GO:0050688)|regulation of interferon-beta production (GO:0032648)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		GAAGATTCGCGACTACAAGCG	0.567																																						ENST00000560371.1											0			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30						c.(1270-1272)Gac>Aac	TNF receptor-associated factor 3						108.0	99.0	102.0					14																	103371684		2203	4300	6503	SO:0001583	missense	7187			apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:103371684G>A	U21092	U21092	CCDS9975.1, CCDS9976.1, CCDS55946.1	CCDS9975.1, CCDS9976.1, CCDS55946.1	14q32.32	2014-09-17			2014-09-17				ENSG00000131323		ENSG00000131323				12033	12033	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601896	601896						7530216, 7859281	7530216, 7859281	Standard	Standard	NM_145725	NM_145725		Approved	CAP-1, CD40bp, CRAF1, LAP1	uc001ymd.2	uc001ymd.2	Q13114	Q13114			ENST00000560371.1:c.1270G>A	14.37:g.103371684G>A	ENSP00000454207:p.Asp424Asn		TRAF3_ENST00000392745.2_Missense_Mutation_p.D424N|TRAF3_ENST00000351691.5_Missense_Mutation_p.D399N|TRAF3_ENST00000347662.4_Missense_Mutation_p.D399N|TRAF3_ENST00000539721.1_Missense_Mutation_p.D341N	p.D424N	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)	11	1487	+		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)	424	MATH.	B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1	Missense_Mutation	SNP	ENST00000560371.1	37	c.1270G>A	CCDS9975.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.242048	0.79912	.	.	ENSG00000131323	ENST00000392745;ENST00000347662;ENST00000351691;ENST00000539721	T;T;T	0.36157	1.27;1.27;1.27	5.45	5.45	0.79879	5.45	5.45	0.79879	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.43389	0.1245	N	0.21282	0.65	0.80722	D	1	D;D;D	0.71674	0.998;0.976;0.997	P;P;P	0.60286	0.871;0.5;0.872	T	0.15578	-1.0432	10	0.23891	T	0.37	-32.0079	19.3058	0.94163	0.0:0.0:1.0:0.0	.	341;399;424	Q13114-2;A6NHG8;Q13114	.;.;TRAF3_HUMAN	N	424;399;424;341	ENSP00000376500:D424N;ENSP00000328003:D399N;ENSP00000445998:D341N	ENSP00000328003:D399N	D	+	1	0	0	TRAF3	102441437	102441437	1.000000	0.71417	0.259000	0.24435	0.579000	0.36224	9.869000	0.99810	2.558000	0.86282	0.655000	0.94253	GAC		0.567	TRAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415735.1		5.111844	4	4	57	57	NM_145725		3	7.460747	7.460747	17	0.150000	0	0	0	1	0	3	17	0.15
STK11IP	114790	broad.mit.edu	37	2	220473354	220473354	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:220473354C>T	ENST00000456909.1	+	15	1743	c.1653C>T	c.(1651-1653)ggC>ggT	p.G551G	STK11IP_ENST00000295641.10_Silent_p.G562G			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	562	Glu-rich.				protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCCTGAGGGCGTACGGGGCA	0.602																																						ENST00000456909.1											0			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23						c.(1651-1653)ggC>ggT	serine/threonine kinase 11 interacting protein						51.0	56.0	54.0					2																	220473354		1991	4145	6136	SO:0001819	synonymous_variant	114790			protein localization	cytoplasm	protein kinase binding	g.chr2:220473354C>T	AF450267	AF450267	CCDS46521.1	CCDS46521.1	2q35	2008-06-03			2008-06-03			ENSG00000144589	ENSG00000144589	ENSG00000144589	ENSG00000144589				19184	19184	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""LKB1 interacting protein"""	"""LKB1 interacting protein"""	607172	607172						11741830	11741830	Standard	Standard	NM_052902	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	uc002vml.3	Q8N1F8	Q8N1F8	OTTHUMG00000059239	OTTHUMG00000059239	ENST00000456909.1:c.1653C>T	2.37:g.220473354C>T			STK11IP_ENST00000295641.10_Silent_p.G562G	p.G551G			Q8N1F8	S11IP_HUMAN		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	15	1743	+		Renal(207;0.0183)	562	Glu-rich.	Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Silent	SNP	ENST00000456909.1	37	c.1653C>T																																																																																										0.602	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1		19.884480	-10	-10	53	53	NM_052902		8	21.041074	21.041074	20	0.285714	0	0	0	1	0	8	20	0.285714
SHROOM1	134549	broad.mit.edu	37	5	132158676	132158676	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:132158676C>T	ENST00000378679.3	-	10	3175	c.2371G>A	c.(2371-2373)Gcc>Acc	p.A791T	SHROOM1_ENST00000378676.1_Missense_Mutation_p.A722T|SHROOM1_ENST00000319854.3_Missense_Mutation_p.A786T|SHROOM1_ENST00000488072.1_5'Flank	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	791	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin filament bundle assembly (GO:0051017)|cell morphogenesis (GO:0000902)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|myosin II complex (GO:0016460)	actin filament binding (GO:0051015)			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCCAGCAGGGCGCAATAGACG	0.701																																						ENST00000378679.3											0			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.(2371-2373)Gcc>Acc	shroom family member 1						35.0	32.0	33.0					5																	132158676		2199	4298	6497	SO:0001583	missense	134549			actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding	g.chr5:132158676C>T	AF314142	AF314142	CCDS4161.1, CCDS54902.1	CCDS4161.1, CCDS54902.1	5q31.1	2007-05-03			2007-05-03			ENSG00000164403	ENSG00000164403	ENSG00000164403	ENSG00000164403				24084	24084	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611179	611179						11853319, 16615870	11853319, 16615870	Standard	Standard	NM_133456	NM_133456		Approved	APXL2, KIAA1960	uc003kxy.2	uc003kxy.2	Q2M3G4	Q2M3G4	OTTHUMG00000059835	OTTHUMG00000059835	ENST00000378679.3:c.2371G>A	5.37:g.132158676C>T	ENSP00000367950:p.Ala791Thr		SHROOM1_ENST00000378676.1_Missense_Mutation_p.A722T|SHROOM1_ENST00000319854.3_Missense_Mutation_p.A786T	p.A791T	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		10	3175	-			791	ASD2.	B7WP40|B7ZL01|Q8TDP0|Q8TF41	Missense_Mutation	SNP	ENST00000378679.3	37	c.2371G>A	CCDS54902.1	.	.	.	.	.	.	.	.	.	.	C	8.557	0.876877	0.17395	.	.	ENSG00000164403	ENST00000378679;ENST00000319854;ENST00000378676	T;T;T	0.29397	1.57;1.57;1.57	4.92	-0.199	0.13220	4.92	-0.199	0.13220	Apx/shroom, ASD2 (2);	0.979382	0.08366	N	0.956918	T	0.13970	0.0338	N	0.16478	0.41	0.09310	N	1	B;B	0.29115	0.196;0.233	B;B	0.20384	0.017;0.029	T	0.25745	-1.0123	10	0.22706	T	0.39	-3.01	2.6354	0.04956	0.3393:0.4027:0.1163:0.1417	.	786;791	Q2M3G4-2;Q2M3G4	.;SHRM1_HUMAN	T	791;786;722	ENSP00000367950:A791T;ENSP00000324245:A786T;ENSP00000367947:A722T	ENSP00000324245:A786T	A	-	1	0	0	SHROOM1	132186575	132186575	0.000000	0.05858	0.031000	0.17742	0.506000	0.33950	0.061000	0.14366	-0.168000	0.10853	0.655000	0.94253	GCC		0.701	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133033.1		23.395652	-1	-1	30	30	NM_133456		8	23.570642	23.570642	12	0.400000	0	0	0	1	0	8	12	0.4
ZNF860	344787	broad.mit.edu	37	3	32030999	32030999	+	Missense_Mutation	SNP	G	G	A	rs570687729		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr3:32030999G>A	ENST00000360311.4	+	2	977	c.428G>A	c.(427-429)cGa>cAa	p.R143Q		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	143					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R143Q(1)		endometrium(3)|lung(4)|ovary(1)	8						AGATATGATCGAAGGCATCCT	0.403													G|||	1	0.000199681	0.0	0.0	5008	,	,		20323	0.0		0.0	False		,,,				2504	0.001					ENST00000360311.4											1	Substitution - Missense(1)	stomach(1)	endometrium(3)|lung(4)|ovary(1)	8						c.(427-429)cGa>cAa	zinc finger protein 860						59.0	45.0	49.0					3																	32030999		692	1591	2283	SO:0001583	missense	344787			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:32030999G>A	AK294003	AK294003	CCDS46784.1	CCDS46784.1	3p24.1	2013-01-08			2013-01-08			ENSG00000197385	ENSG00000197385	ENSG00000197385	ENSG00000197385		"""Zinc fingers, C2H2-type"", ""-"""	"""Zinc fingers, C2H2-type"", ""-"""	34513	34513	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001137674	NM_001137674		Approved		uc011axg.2	uc011axg.2	A6NHJ4	A6NHJ4	OTTHUMG00000155838	OTTHUMG00000155838	ENST00000360311.4:c.428G>A	3.37:g.32030999G>A	ENSP00000373274:p.Arg143Gln			p.R143Q	NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN			2	977	+			143		B4DFA4	Missense_Mutation	SNP	ENST00000360311.4	37	c.428G>A	CCDS46784.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.623274	0.00820	.	.	ENSG00000197385	ENST00000360311	T	0.04862	3.54	0.336	0.336	0.15958	0.336	0.336	0.15958	.	.	.	.	.	T	0.05593	0.0147	L	0.43757	1.38	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40794	-0.9544	8	.	.	.	.	6.424	0.21760	2.0E-4:0.0:0.9998:0.0	.	143	A6NHJ4	ZN860_HUMAN	Q	143	ENSP00000373274:R143Q	.	R	+	2	0	0	ZNF860	32006003	32006003	0.010000	0.17322	0.016000	0.15963	0.015000	0.08874	1.299000	0.33424	0.385000	0.24970	0.385000	0.25706	CGA		0.403	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341957.1		4.308537	-5	-5	78	78			3	7.605368	7.605368	21	0.125000	0	0	0	1	0	3	21	0.125
SEPT6	23157	broad.mit.edu	37	X	118774741	118774741	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:118774741G>A	ENST00000343984.5	-	6	965	c.701C>T	c.(700-702)cCg>cTg	p.P234L	SEPT6_ENST00000394616.4_Missense_Mutation_p.P176L|SEPT6_ENST00000394617.2_Missense_Mutation_p.P264L|SEPT6_ENST00000394610.1_Missense_Mutation_p.P234L|SEPT6_ENST00000354228.4_Missense_Mutation_p.P234L|SEPT6_ENST00000489216.1_Missense_Mutation_p.P234L|SEPT6_ENST00000360156.7_Missense_Mutation_p.P234L|SEPT6_ENST00000354416.3_Missense_Mutation_p.P234L	NM_015129.5	NP_055944.2	Q14141	SEPT6_HUMAN	septin 6	234	Septin-type G.				cytokinesis (GO:0000910)|viral process (GO:0016032)	axon terminus (GO:0043679)|kinetochore (GO:0000776)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)	GTP binding (GO:0005525)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						GACAGCAAACGGCAGGTGGGC	0.547			T	MLL	AML																																	ENST00000394610.1		Dom	yes		X	Xq24	23157	septin 6		L	0			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						c.(700-702)cCg>cTg	septin 6						142.0	98.0	113.0					X																	118774741		2203	4300	6503	SO:0001583	missense	23157			cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding	g.chrX:118774741G>A	D50918	D50918	CCDS14583.1, CCDS14584.1, CCDS14585.1	CCDS14583.1, CCDS14584.1, CCDS14585.1	Xq24	2013-01-21			2013-01-21			ENSG00000125354	ENSG00000125354	ENSG00000125354	ENSG00000125354		"""Septins"""	"""Septins"""	15848	15848	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300683	300683						8590280, 10744683	8590280, 10744683	Standard	Standard	NM_015129	NM_015129		Approved	KIAA0128, SEP2, SEPT2, MGC16619, MGC20339	uc004erv.3	uc004erv.3	Q14141	Q14141	OTTHUMG00000022280	OTTHUMG00000022280	ENST00000343984.5:c.701C>T	X.37:g.118774741G>A	ENSP00000341524:p.Pro234Leu		SEPT6_ENST00000354228.4_Missense_Mutation_p.P234L|SEPT6_ENST00000360156.7_Missense_Mutation_p.P234L|SEPT6_ENST00000394617.2_Missense_Mutation_p.P264L|SEPT6_ENST00000489216.1_Missense_Mutation_p.P234L|SEPT6_ENST00000354416.3_Missense_Mutation_p.P234L|SEPT6_ENST00000343984.5_Missense_Mutation_p.P234L|SEPT6_ENST00000394616.4_Missense_Mutation_p.P176L	p.P234L	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN			6	965	-			234		Q5JTK0|Q969W5|Q96A13|Q96GR1|Q96P86|Q96P87	Missense_Mutation	SNP	ENST00000343984.5	37	c.701C>T	CCDS14584.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.847985	0.91277	.	.	ENSG00000125354	ENST00000360156;ENST00000354228;ENST00000489216;ENST00000354416;ENST00000394610;ENST00000343984;ENST00000394616;ENST00000394617;ENST00000520510	T;T;T;T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84	5.62	5.62	0.85841	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.92779	0.7704	H	0.99555	4.625	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.999	D	0.95982	0.8978	10	0.87932	D	0	.	17.5271	0.87803	0.0:0.0:1.0:0.0	.	264;176;234;234	F5H1J5;B4E049;Q14141;Q548C9	.;.;SEPT6_HUMAN;.	L	234;234;234;234;234;234;176;264;234	ENSP00000353278:P234L;ENSP00000346169:P234L;ENSP00000418715:P234L;ENSP00000346397:P234L;ENSP00000378108:P234L;ENSP00000341524:P234L;ENSP00000378114:P176L;ENSP00000378115:P264L	ENSP00000341524:P234L	P	-	2	0	0	SEPT6	118658769	118658769	1.000000	0.71417	0.940000	0.37924	0.874000	0.50279	9.476000	0.97823	2.354000	0.79902	0.594000	0.82650	CCG		0.547	SEPT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058059.1		55.136603	-3	-3	73	73	NM_145802		18	56.108414	56.108414	33	0.352941	0	0	0	1	0	18	33	0.352941
INPP5F	22876	broad.mit.edu	37	10	121551527	121551527	+	Silent	SNP	C	C	T	rs375176930		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr10:121551527C>T	ENST00000361976.2	+	5	757	c.591C>T	c.(589-591)gaC>gaT	p.D197D	INPP5F_ENST00000369081.1_Silent_p.D101D|INPP5F_ENST00000369083.3_Silent_p.D197D	NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	0					cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		GGGAGAGGGACGGTCGGCCCC	0.502																																						ENST00000361976.2											0			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.(589-591)gaC>gaT	inositol polyphosphate-5-phosphatase F	C		0,4406		0,0,2203	159.0	162.0	161.0		591	-11.0	0.0	10		161	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	INPP5F	NM_014937.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		197/1133	121551527	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22876					phosphoric ester hydrolase activity	g.chr10:121551527C>T	AB023183	AB023183	CCDS7616.1, CCDS58098.1	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			2009-02-03			ENSG00000198825	ENSG00000198825	ENSG00000198825	ENSG00000198825				17054	17054	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609389	609389						10231032, 11274189	10231032, 11274189	Standard	Standard	NM_014937	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	uc001leo.3	Q9Y2H2	Q9Y2H2	OTTHUMG00000019158	OTTHUMG00000019158	ENST00000361976.2:c.591C>T	10.37:g.121551527C>T			INPP5F_ENST00000369081.1_Silent_p.D101D|INPP5F_ENST00000369083.3_Silent_p.D197D	p.D197D	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)	5	757	+		Lung NSC(174;0.109)|all_lung(145;0.142)	197	SAC.	A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Silent	SNP	ENST00000361976.2	37	c.591C>T	CCDS7616.1																																																																																									0.502	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050679.1		85.355508	-14	-14	103	103	NM_014937		29	86.481571	86.481571	49	0.371795	0	0	0	1	0	29	49	0.371795
ULK1	8408	broad.mit.edu	37	12	132396495	132396495	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:132396495C>T	ENST00000321867.4	+	13	1308	c.957C>T	c.(955-957)ggC>ggT	p.G319G		NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	319	Interaction with GABARAP and GABARAPL2.				autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		AGTCCCTGGGCGAGATGCAGC	0.647																																						ENST00000321867.4											0			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29						c.(955-957)ggC>ggT	unc-51 like autophagy activating kinase 1						49.0	47.0	48.0					12																	132396495		2203	4299	6502	SO:0001819	synonymous_variant	8408			autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity	g.chr12:132396495C>T	AF045458	AF045458	CCDS9274.1	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169	ENSG00000177169	ENSG00000177169				12558	12558	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""ATG1 autophagy related 1 homolog (S. cerevisiae)"""	"""ATG1 autophagy related 1 homolog (S. cerevisiae)"""	603168	603168	"""unc-51 (C. elegans)-like kinase 1"", ""unc-51-like kinase 1 (C. elegans)"""		"""unc-51 (C. elegans)-like kinase 1"", ""unc-51-like kinase 1 (C. elegans)"""			9693035	9693035	Standard	Standard	NM_003565	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	uc001uje.3	O75385	O75385	OTTHUMG00000168052	OTTHUMG00000168052	ENST00000321867.4:c.957C>T	12.37:g.132396495C>T				p.G319G	NM_003565.2	NP_003556	O75385	ULK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)	13	1308	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		319	Interaction with GABARAP and GABARAPL2.	Q9UQ28	Silent	SNP	ENST00000321867.4	37	c.957C>T	CCDS9274.1																																																																																									0.647	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397769.3		48.497029	-5	-5	57	57			16	48.620791	48.620791	12	0.571429	0	0	0	1	0	16	12	0.571429
LAMA3	3909	broad.mit.edu	37	18	21484018	21484018	+	Missense_Mutation	SNP	G	G	A	rs201023601		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr18:21484018G>A	ENST00000313654.9	+	50	6681	c.6440G>A	c.(6439-6441)cGg>cAg	p.R2147Q	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.R482Q|LAMA3_ENST00000269217.6_Missense_Mutation_p.R538Q|LAMA3_ENST00000399516.3_Missense_Mutation_p.R2091Q	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2147	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					AAGCACGCGCGGTCCTTACAA	0.512																																						ENST00000313654.9											0			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(6439-6441)cGg>cAg	laminin, alpha 3						81.0	83.0	82.0					18																	21484018		2203	4300	6503	SO:0001583	missense	3909			cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21484018G>A	L34155	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747	ENSG00000053747	ENSG00000053747		"""Laminins"""	"""Laminins"""	6483	6483	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600805	600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	8077230	Standard	Standard	NM_000227	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	uc002kuq.3	Q16787	Q16787	OTTHUMG00000131874	OTTHUMG00000131874	ENST00000313654.9:c.6440G>A	18.37:g.21484018G>A	ENSP00000324532:p.Arg2147Gln		LAMA3_ENST00000587184.1_Missense_Mutation_p.R482Q|LAMA3_ENST00000399516.3_Missense_Mutation_p.R2091Q|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000269217.6_Missense_Mutation_p.R538Q	p.R2147Q	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			50	6681	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		2147	Domain II and I.	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.6440G>A	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	A	0.212	-1.035403	0.02029	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.77358	2.31;-1.09;2.0	6.11	4.95	0.65309	6.11	4.95	0.65309	.	.	.	.	.	T	0.36220	0.0959	N	0.00182	-1.905	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.42783	-0.9431	9	0.02654	T	1	.	6.3132	0.21176	0.7524:0.0:0.1292:0.1184	.	482;538;2091;2147	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	Q	2147;2091;538	ENSP00000324532:R2147Q;ENSP00000382432:R2091Q;ENSP00000269217:R538Q	ENSP00000269217:R538Q	R	+	2	0	0	LAMA3	19738016	19738016	0.993000	0.37304	0.064000	0.19789	0.049000	0.14656	3.166000	0.50785	0.549000	0.28973	-0.254000	0.11334	CGG		0.512	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3		1.460779	-7	-7	112	112	NM_000227, NM_198129		7	16.280938	16.280938	77	0.083333	0	0	0	1	0	7	77	0.083333
EFEMP2	30008	broad.mit.edu	37	11	65638031	65638031	+	Missense_Mutation	SNP	G	G	A	rs573771187	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:65638031G>A	ENST00000307998.6	-	5	696	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C	EFEMP2_ENST00000532648.1_5'Flank|EFEMP2_ENST00000528176.1_Missense_Mutation_p.R156C	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	156	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		CCGATCTTGCGGTAACCATCA	0.622													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17592	0.0		0.0	False		,,,				2504	0.0					ENST00000307998.6											0			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(466-468)Cgc>Tgc	EGF containing fibulin-like extracellular matrix protein 2						87.0	74.0	78.0					11																	65638031		2201	4296	6497	SO:0001583	missense	30008			blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity	g.chr11:65638031G>A	AF109121	AF109121	CCDS8116.1	CCDS8116.1	11q13	2011-06-17	2011-01-25		2011-06-17	2011-01-25		ENSG00000172638	ENSG00000172638	ENSG00000172638	ENSG00000172638		"""Fibulins"""	"""Fibulins"""	3219	3219	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""fibulin 4"""	"""fibulin 4"""	604633	604633	"""EGF-containing fibulin-like extracellular matrix protein 2"""		"""EGF-containing fibulin-like extracellular matrix protein 2"""			10601734, 10982184	10601734, 10982184	Standard	Standard	NR_037718	NR_037718		Approved	FBLN4, UPH1	uc001ofy.4	uc001ofy.4	O95967	O95967	OTTHUMG00000166664	OTTHUMG00000166664	ENST00000307998.6:c.466C>T	11.37:g.65638031G>A	ENSP00000309953:p.Arg156Cys		EFEMP2_ENST00000528176.1_Missense_Mutation_p.R156C	p.R156C	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN		READ - Rectum adenocarcinoma(159;0.169)	5	696	-			156	EGF-like 2; calcium-binding (Potential).	A8K7R4|B3KM31|B3KQT1|O75967	Missense_Mutation	SNP	ENST00000307998.6	37	c.466C>T	CCDS8116.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.346497	0.82022	.	.	ENSG00000172638	ENST00000528176;ENST00000307998;ENST00000526624;ENST00000527378	D;D;D;D	0.87571	-2.27;-2.27;-2.24;-2.27	5.3	4.35	0.52113	5.3	4.35	0.52113	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.42053	D	0.000778	D	0.92678	0.7673	M	0.82716	2.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.993	D	0.92183	0.5753	10	0.52906	T	0.07	.	11.3294	0.49467	0.0:0.0:0.7056:0.2944	.	156;156	E9PRU1;O95967	.;FBLN4_HUMAN	C	156	ENSP00000434151:R156C;ENSP00000309953:R156C;ENSP00000435419:R156C;ENSP00000435963:R156C	ENSP00000309953:R156C	R	-	1	0	0	EFEMP2	65394607	65394607	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.374000	0.59543	2.761000	0.94854	0.561000	0.74099	CGC		0.622	EFEMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391047.4		34.255824	5	5	29	29	NM_016938		10	34.832819	34.832819	4	0.714286	0	0	0	1	0	10	4	0.714286
NUP210	23225	broad.mit.edu	37	3	13370329	13370329	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr3:13370329C>T	ENST00000254508.5	-	31	4310	c.4228G>A	c.(4228-4230)Gac>Aac	p.D1410N		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1410					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CCAGAGTTGTCGTGGAAGTGG	0.547																																						ENST00000254508.5											0			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(4228-4230)Gac>Aac	nucleoporin 210kDa						137.0	122.0	127.0					3																	13370329		2203	4300	6503	SO:0001583	missense	23225			carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13370329C>T	AB020713	AB020713	CCDS33704.1	CCDS33704.1	3p25	2008-02-05			2008-02-05			ENSG00000132182	ENSG00000132182	ENSG00000132182	ENSG00000132182				30052	30052	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607703	607703						2184032, 7504063	2184032, 7504063	Standard	Standard	NM_024923	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	uc003bxv.1	Q8TEM1	Q8TEM1	OTTHUMG00000157268	OTTHUMG00000157268	ENST00000254508.5:c.4228G>A	3.37:g.13370329C>T	ENSP00000254508:p.Asp1410Asn			p.D1410N	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN			31	4310	-	all_neural(104;0.187)		1410		A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	c.4228G>A	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.114160	0.56398	.	.	ENSG00000132182	ENST00000254508	T	0.17054	2.3	5.41	5.41	0.78517	5.41	5.41	0.78517	.	0.117155	0.64402	D	0.000020	T	0.36248	0.0960	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	P	0.59115	0.852	T	0.01215	-1.1416	10	0.29301	T	0.29	-36.046	19.5739	0.95434	0.0:1.0:0.0:0.0	.	1410	Q8TEM1	PO210_HUMAN	N	1410	ENSP00000254508:D1410N	ENSP00000254508:D1410N	D	-	1	0	0	NUP210	13345329	13345329	1.000000	0.71417	0.925000	0.36789	0.023000	0.10783	7.755000	0.85180	2.691000	0.91804	0.563000	0.77884	GAC		0.547	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1		77.742315	17	17	77	77	NM_024923		22	80.913576	80.913576	2	0.916667	0	0	0	1	0	22	2	0.916667
KMT2D	8085	broad.mit.edu	37	12	49433784	49433784	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:49433784G>A	ENST00000301067.7	-	31	7768	c.7769C>T	c.(7768-7770)tCg>tTg	p.S2590L	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2590	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GGGGCTGCCCGATGGGTGGAA	0.657																																						ENST00000301067.7											0										c.(7768-7770)tCg>tTg	lysine (K)-specific methyltransferase 2D						33.0	38.0	37.0					12																	49433784		1912	4117	6029	SO:0001583	missense	8085						g.chr12:49433784G>A	AF010403	AF010403	CCDS44873.1	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	7133	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602113	602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	9247308	Standard	Standard	NM_003482	NM_003482		Approved	ALR, MLL4, CAGL114			O14686	O14686	OTTHUMG00000166524	OTTHUMG00000166524	ENST00000301067.7:c.7769C>T	12.37:g.49433784G>A	ENSP00000301067:p.Ser2590Leu			p.S2590L	NM_003482.3	NP_003473.3					31	7768	-					O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.7769C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	9.695	1.152869	0.21371	.	.	ENSG00000167548	ENST00000301067	T	0.79141	-1.24	5.24	4.3	0.51218	5.24	4.3	0.51218	.	0.000000	0.32147	N	0.006511	T	0.60818	0.2298	N	0.14661	0.345	0.27095	N	0.962752	B	0.06786	0.001	B	0.06405	0.002	T	0.57106	-0.7868	10	0.87932	D	0	.	9.7506	0.40473	0.0817:0.1445:0.7738:0.0	.	2590	O14686	MLL2_HUMAN	L	2590	ENSP00000301067:S2590L	ENSP00000301067:S2590L	S	-	2	0	0	MLL2	47720051	47720051	0.869000	0.29996	1.000000	0.80357	0.992000	0.81027	1.698000	0.37794	2.609000	0.88269	0.591000	0.81541	TCG		0.657	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		6.818385	-3	-3	18	18			3	7.681915	7.681915	10	0.230769	0	0	0	1	0	3	10	0.230769
ISG15	9636	broad.mit.edu	37	1	949767	949767	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:949767C>T	ENST00000379389.4	+	2	558	c.407C>T	c.(406-408)cCg>cTg	p.P136L	RP11-54O7.11_ENST00000458555.1_RNA	NM_005101.3	NP_005092.1	P05161	ISG15_HUMAN	ISG15 ubiquitin-like modifier	136	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of erythrocyte differentiation (GO:0045648)|regulation of interferon-gamma production (GO:0032649)|response to type I interferon (GO:0034340)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular region (GO:0005576)	protein tag (GO:0031386)			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.05e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.54e-23)|Colorectal(212;5.37e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00238)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GACCAGCTCCCGCTGGGGGAG	0.677																																						ENST00000379389.4											0			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3						c.(406-408)cCg>cTg	ISG15 ubiquitin-like modifier						45.0	49.0	47.0					1																	949767		2203	4299	6502	SO:0001583	missense	9636			cell-cell signaling|interspecies interaction between organisms|ISG15-protein conjugation|negative regulation of type I interferon production|response to virus|type I interferon-mediated signaling pathway	cytosol|extracellular space	protein binding	g.chr1:949767C>T	BC009507	BC009507	CCDS6.1	CCDS6.1	1p36.33	2008-02-05	2006-04-28	2006-04-28	2008-02-05	2006-04-28	2006-04-28	ENSG00000187608	ENSG00000187608	ENSG00000187608	ENSG00000187608				4053	4053	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			147571	147571	"""interferon, alpha-inducible protein (clone IFI-15K)"""	G1P2	"""interferon, alpha-inducible protein (clone IFI-15K)"""	G1P2		3087979	3087979	Standard	Standard	NM_005101	NM_005101		Approved	IFI15, UCRP	uc001acj.4	uc001acj.4	P05161	P05161	OTTHUMG00000040777	OTTHUMG00000040777	ENST00000379389.4:c.407C>T	1.37:g.949767C>T	ENSP00000368699:p.Pro136Leu			p.P136L	NM_005101.3	NP_005092.1	P05161	ISG15_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.05e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.54e-23)|Colorectal(212;5.37e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00238)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	2	558	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	136	Ubiquitin-like 2.	Q5SVA4|Q7Z2G2|Q96GF0	Missense_Mutation	SNP	ENST00000379389.4	37	c.407C>T	CCDS6.1	.	.	.	.	.	.	.	.	.	.	C	6.876	0.531106	0.13127	.	.	ENSG00000187608	ENST00000379389	T	0.73897	-0.79	4.21	-8.43	0.00953	4.21	-8.43	0.00953	Ubiquitin supergroup (1);Ubiquitin (2);	8.594950	0.00166	N	0.000000	T	0.49423	0.1556	N	0.16233	0.39	0.09310	N	1	B	0.28512	0.214	B	0.14023	0.01	T	0.40979	-0.9534	10	0.87932	D	0	-7.5699	0.9151	0.01303	0.2529:0.3409:0.2148:0.1914	.	136	P05161	ISG15_HUMAN	L	136	ENSP00000368699:P136L	ENSP00000368699:P136L	P	+	2	0	0	ISG15	939630	939630	0.000000	0.05858	0.000000	0.03702	0.295000	0.27426	-3.609000	0.00415	-1.993000	0.00974	0.561000	0.74099	CCG		0.677	ISG15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097989.1		6.847923	-4	-4	52	52	NM_005101		5	12.585325	12.585325	36	0.121951	0	0	0	1	0	5	36	0.121951
SALL3	27164	broad.mit.edu	37	18	76754682	76754682	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr18:76754682C>T	ENST00000537592.2	+	2	2691	c.2691C>T	c.(2689-2691)tcC>tcT	p.S897S	SALL3_ENST00000575389.2_Silent_p.S897S|SALL3_ENST00000536229.3_Silent_p.S764S	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	897	Poly-Ser.				forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCGCCCTGTCCGAGTCCTCGT	0.731																																						ENST00000536229.3											0			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(2290-2292)tcC>tcT	spalt-like transcription factor 3						11.0	14.0	13.0					18																	76754682		2034	4017	6051	SO:0001819	synonymous_variant	27164			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76754682C>T	AJ007421	AJ007421	CCDS12013.1	CCDS12013.1	18q23	2013-10-17	2013-10-17		2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463	ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	"""Zinc fingers, C2H2-type"""	10527	10527	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605079	605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""		"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	10610715	Standard	Standard	NM_171999	NM_171999		Approved	ZNF796	uc002lmt.3	uc002lmt.3	Q9BXA9	Q9BXA9	OTTHUMG00000132896	OTTHUMG00000132896	ENST00000537592.2:c.2691C>T	18.37:g.76754682C>T			SALL3_ENST00000537592.2_Silent_p.S897S|SALL3_ENST00000575389.2_Silent_p.S897S	p.S764S			Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	1	3001	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	897		Q9UGH1	Silent	SNP	ENST00000537592.2	37	c.2292C>T	CCDS12013.1																																																																																									0.731	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1		50.533232	-1	-1	29	29	NM_171999		15	51.180417	51.180417	7	0.681818	0	0	0	1	0	15	7	0.681818
LRFN1	57622	broad.mit.edu	37	19	39805081	39805081	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:39805081G>A	ENST00000248668.4	-	1	895	c.896C>T	c.(895-897)cCg>cTg	p.P299L	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	299	Ig-like.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			TGTGATCAGCGGGGGCTCACA	0.706																																						ENST00000248668.4											0			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(895-897)cCg>cTg	leucine rich repeat and fibronectin type III domain containing 1						15.0	20.0	18.0					19																	39805081		2116	4238	6354	SO:0001583	missense	57622				cell junction|integral to membrane|postsynaptic density|postsynaptic membrane		g.chr19:39805081G>A	BC014678	BC014678	CCDS46071.1	CCDS46071.1	19q13.2	2013-02-11			2013-02-11				ENSG00000128011		ENSG00000128011		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29290	29290	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612807	612807						10819331, 16828986	10819331, 16828986	Standard	Standard	NM_020862	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	uc002okw.2	Q9P244	Q9P244			ENST00000248668.4:c.896C>T	19.37:g.39805081G>A	ENSP00000248668:p.Pro299Leu			p.P299L	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		1	895	-	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		299	Ig-like.	Q8TBS9	Missense_Mutation	SNP	ENST00000248668.4	37	c.896C>T	CCDS46071.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.393017	0.83011	.	.	ENSG00000128011	ENST00000248668	D	0.93189	-3.18	4.53	4.53	0.55603	4.53	4.53	0.55603	Immunoglobulin-like (1);	0.000000	0.44483	D	0.000453	D	0.97682	0.9240	H	0.97186	3.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97812	1.0251	10	0.38643	T	0.18	.	14.7902	0.69837	0.0:0.0:1.0:0.0	.	299	Q9P244	LRFN1_HUMAN	L	299	ENSP00000248668:P299L	ENSP00000248668:P299L	P	-	2	0	0	LRFN1	44496921	44496921	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.603000	0.98315	2.352000	0.79861	0.655000	0.94253	CCG		0.706	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463835.1		23.327833	14	14	25	25	NM_020862		7	23.507782	23.507782	4	0.636364	0	0	0	1	0	7	4	0.636364
FMO2	2327	broad.mit.edu	37	1	171174750	171174750	+	Missense_Mutation	SNP	G	G	A	rs72549336|rs187393653		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:171174750G>A	ENST00000209929.7	+	7	1318	c.1160G>A	c.(1159-1161)cGt>cAt	p.R387H	RP1-127D3.4_ENST00000422841.1_RNA|FMO2_ENST00000441535.1_Missense_Mutation_p.R387H|FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000445909.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	386					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTTCAAGCTCGTTGGGTGACA	0.468																																						ENST00000441535.1											0			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22						c.(1159-1161)cGt>cAt	flavin containing monooxygenase 2 (non-functional)						43.0	42.0	42.0					1																	171174750		2203	4299	6502	SO:0001583	missense	2327			drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171174750G>A	BC005894	BC005894	CCDS1293.1	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963	ENSG00000094963	ENSG00000094963				3770	3770	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603955	603955	"""flavin containing monooxygenase 2"""		"""flavin containing monooxygenase 2"""			1417778, 9804831	1417778, 9804831	Standard	Standard	XR_426768	XR_426768		Approved		uc001ghk.1	uc001ghk.1	Q99518	Q99518	OTTHUMG00000035504	OTTHUMG00000035504	ENST00000209929.7:c.1160G>A	1.37:g.171174750G>A	ENSP00000209929:p.Arg387His		RP1-127D3.4_ENST00000445909.1_RNA|FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000209929.7_Missense_Mutation_p.R387H	p.R387H	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN			7	1277	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		387		Q53XR0	Missense_Mutation	SNP	ENST00000209929.7	37	c.1160G>A	CCDS1293.1	.	.	.	.	.	.	.	.	.	.	G	35	5.460870	0.96240	.	.	ENSG00000094963	ENST00000209929;ENST00000441535	T;T	0.63580	-0.05;-0.05	5.55	5.55	0.83447	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.81009	0.4734	H	0.94385	3.53	0.80722	D	1	D	0.61697	0.99	P	0.58577	0.841	D	0.85749	0.1342	10	0.72032	D	0.01	-17.9497	18.6468	0.91413	0.0:0.0:1.0:0.0	.	387	Q99518	FMO2_HUMAN	H	387	ENSP00000209929:R387H;ENSP00000405905:R387H	ENSP00000209929:R387H	R	+	2	0	0	FMO2	169441374	169441374	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.732000	0.74790	2.768000	0.95171	0.655000	0.94253	CGT		0.468	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086216.2		44.303176	-10	-10	36	36	NM_001460		15	44.364388	44.364388	18	0.454545	0	0	0	1	0	15	18	0.454545
DCTN1	1639	broad.mit.edu	37	2	74596484	74596484	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:74596484C>T	ENST00000361874.3	-	14	1844	c.1527G>A	c.(1525-1527)acG>acA	p.T509T	DCTN1_ENST00000409240.1_Silent_p.T472T|DCTN1_ENST00000409438.1_Silent_p.T375T|DCTN1_ENST00000394003.3_Silent_p.T502T|DCTN1_ENST00000495643.1_5'Flank|DCTN1_ENST00000409868.1_Silent_p.T492T|DCTN1_ENST00000409567.3_Silent_p.T489T|DCTN1_ENST00000407639.2_Silent_p.T375T	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	509					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						AGTCTGCAACCGTCTCCTGGG	0.617																																						ENST00000361874.3											0			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						c.(1525-1527)acG>acA	dynactin 1						160.0	152.0	155.0					2																	74596484		2203	4300	6503	SO:0001819	synonymous_variant	1639			cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74596484C>T			CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843	ENSG00000204843	ENSG00000204843				2711	2711	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	"""p150 glued homolog (Drosophila)"""	601143	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""		"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	1828535	Standard	Standard	NM_001190836	NM_001190836		Approved		uc002skx.3	uc002skx.3	Q14203	Q14203	OTTHUMG00000129963	OTTHUMG00000129963	ENST00000361874.3:c.1527G>A	2.37:g.74596484C>T			DCTN1_ENST00000409567.3_Silent_p.T489T|DCTN1_ENST00000409868.1_Silent_p.T492T|DCTN1_ENST00000409438.1_Silent_p.T375T|DCTN1_ENST00000409240.1_Silent_p.T472T|DCTN1_ENST00000394003.3_Silent_p.T502T|DCTN1_ENST00000407639.2_Silent_p.T375T	p.T509T	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN			14	1844	-			509		A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Silent	SNP	ENST00000361874.3	37	c.1527G>A	CCDS1939.1																																																																																									0.617	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3		11.461393	-1	-1	49	49	NM_004082		5	13.553491	13.553491	20	0.200000	0	0	0	1	0	5	20	0.2
CLPSL2	389383	broad.mit.edu	37	6	35745315	35745315	+	Missense_Mutation	SNP	T	T	G			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:35745315T>G	ENST00000403376.3	+	2	164	c.164T>G	c.(163-165)tTc>tGc	p.F55C	CLPSL2_ENST00000481904.1_3'UTR|CLPSL2_ENST00000360454.2_Missense_Mutation_p.F55C	NM_207409.2	NP_997292.2	Q6UWE3	COLL2_HUMAN	colipase-like 2	55					digestion (GO:0007586)|lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	enzyme activator activity (GO:0008047)										GGTGGAGCCTTCTGTGCCCCC	0.567																																						ENST00000360454.2											0										c.(163-165)tTc>tGc	colipase-like 2						61.0	57.0	58.0					6																	35745315		2203	4300	6503	SO:0001583	missense	389383			digestion|lipid catabolic process	extracellular region	enzyme activator activity	g.chr6:35745315T>G			CCDS4810.2, CCDS69095.1	CCDS4810.2, CCDS69095.1	6p21.31	2014-01-28	2012-02-06	2012-02-06	2014-01-28	2012-02-06	2012-02-06	ENSG00000196748	ENSG00000196748	ENSG00000196748	ENSG00000196748				21250	21250	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""chromosome 6 open reading frame 126"""	C6orf126	"""chromosome 6 open reading frame 126"""	C6orf126				Standard	Standard	NM_001286550	NM_001286550		Approved	dJ510O8.5, UNQ3045	uc010jvz.1	uc010jvz.1	Q6UWE3	Q6UWE3	OTTHUMG00000014581	OTTHUMG00000014581	ENST00000403376.3:c.164T>G	6.37:g.35745315T>G	ENSP00000385898:p.Phe55Cys		CLPSL2_ENST00000403376.3_Missense_Mutation_p.F55C|CLPSL2_ENST00000481904.1_3'UTR	p.F55C			Q6UWE3	CF126_HUMAN			2	168	+			55		B0QZ45|Q5T9G3	Missense_Mutation	SNP	ENST00000403376.3	37	c.164T>G	CCDS4810.2	.	.	.	.	.	.	.	.	.	.	T	21.2	4.114540	0.77210	.	.	ENSG00000196748	ENST00000360454;ENST00000403376	.	.	.	3.41	3.41	0.39046	3.41	3.41	0.39046	.	0.202751	0.24960	N	0.034231	T	0.54078	0.1836	L	0.57536	1.79	0.32740	N	0.507765	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.98	T	0.57665	-0.7772	9	0.87932	D	0	-35.2339	8.5441	0.33410	0.0:0.0:0.0:1.0	.	55;55	Q6UWE3;Q6UWE3-2	CF126_HUMAN;.	C	55	.	ENSP00000353639:F55C	F	+	2	0	0	C6orf126	35853293	35853293	0.991000	0.36638	0.966000	0.40874	0.784000	0.44337	0.961000	0.29267	1.782000	0.52362	0.459000	0.35465	TTC		0.567	CLPSL2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280618.2		15.936085	0	0	49	49	NM_207409		6	17.852035	17.852035	21	0.222222	0	0	0	1	0	6	21	0.222222
SLC25A28	81894	broad.mit.edu	37	10	101370891	101370891	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr10:101370891G>A	ENST00000370495.4	-	4	838	c.810C>T	c.(808-810)tgC>tgT	p.C270C	SLC25A28_ENST00000496035.1_5'UTR	NM_031212.3	NP_112489.3	Q96A46	MFRN2_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 28	270					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)		CAGCTCCTGCGCAAGCTCCAG	0.537																																						ENST00000370495.4											0			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11						c.(808-810)tgC>tgT	solute carrier family 25 (mitochondrial iron transporter), member 28						75.0	77.0	76.0					10																	101370891		1965	4152	6117	SO:0001819	synonymous_variant	81894			ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane		g.chr10:101370891G>A	AF327402	AF327402	CCDS41559.1	CCDS41559.1	10q24.2	2013-05-22	2012-03-29		2013-05-22	2012-03-29		ENSG00000155287	ENSG00000155287	ENSG00000155287	ENSG00000155287		"""Solute carriers"""	"""Solute carriers"""	23472	23472	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""mitoferrin 2"""	"""mitoferrin 2"""	609767	609767	"""solute carrier family 25, member 28"""		"""solute carrier family 25, member 28"""			11297739	11297739	Standard	Standard	NM_031212	NM_031212		Approved	MRS3/4, MRS4L	uc001kpx.2	uc001kpx.2	Q96A46	Q96A46	OTTHUMG00000018886	OTTHUMG00000018886	ENST00000370495.4:c.810C>T	10.37:g.101370891G>A			SLC25A28_ENST00000496035.1_5'UTR	p.C270C	NM_031212.3	NP_112489.3	Q96A46	MFRN2_HUMAN		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)	4	838	-		Colorectal(252;0.234)	270		Q4VBZ0|Q5T777|Q86VX5|Q969G8|Q9H2J3	Silent	SNP	ENST00000370495.4	37	c.810C>T	CCDS41559.1																																																																																									0.537	SLC25A28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049801.1		24.600335	1	1	56	56	NM_031212		11	28.402699	28.402699	40	0.215686	0	0	0	1	0	11	40	0.215686
CCDC180	100499483	broad.mit.edu	37	9	100071854	100071854	+	Silent	SNP	C	C	T	rs147529206		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:100071854C>T	ENST00000357054.1	+	17	1712	c.777C>T	c.(775-777)aaC>aaT	p.N259N	CCDC180_ENST00000375202.2_Silent_p.N120N|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000529487.1_Silent_p.N120N|CCDC180_ENST00000395220.1_Silent_p.N259N|CCDC180_ENST00000411667.2_Silent_p.N120N|RP11-23J9.4_ENST00000534123.1_RNA			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	259						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											GCCTCCCCAACGACTGGATCA	0.537																																						ENST00000375202.2											0										c.(358-360)aaC>aaT	coiled-coil domain containing 180	C		0,4406		0,0,2203	95.0	73.0	81.0		360	-6.9	0.2	9	dbSNP_134	81	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	C9orf174	NM_020893.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		120/1702	100071854	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	100499483						g.chr9:100071854C>T	AK123391	AK123391	CCDS35077.1, CCDS35077.2	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816		ENSG00000197816				29303	29303	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""	"""Behcet's Disease Associated Gene 1"""			"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174	"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	10819331	Standard	Standard	NM_020893	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	uc004axg.2	Q9P1Z9	Q9P1Z9	OTTHUMG00000167001	OTTHUMG00000167001	ENST00000357054.1:c.777C>T	9.37:g.100071854C>T			RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000357054.1_Silent_p.N259N|CCDC180_ENST00000411667.2_Silent_p.N120N|CCDC180_ENST00000395220.1_Silent_p.N259N|CCDC180_ENST00000529487.1_Silent_p.N120N|CCDC180_ENST00000460482.2_3'UTR	p.N120N							17	1712	+					Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Silent	SNP	ENST00000357054.1	37	c.360C>T																																																																																										0.537	CCDC180-201	KNOWN	basic	protein_coding	protein_coding			23.262803	-14	-14	37	37	NM_020893		9	24.638228	24.638228	23	0.281250	0	0	0	1	0	9	23	0.28125
ABCA3	21	broad.mit.edu	37	16	2347526	2347526	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:2347526G>A	ENST00000301732.5	-	17	2767	c.2067C>T	c.(2065-2067)gaC>gaT	p.D689D	ABCA3_ENST00000382381.3_Silent_p.D631D	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	689	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	AGGTGGGCTCGTCCAGTATCA	0.637																																						ENST00000301732.5											0			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70						c.(2065-2067)gaC>gaT	ATP-binding cassette, sub-family A (ABC1), member 3						97.0	77.0	84.0					16																	2347526		2198	4300	6498	SO:0001819	synonymous_variant	21			response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2347526G>A	U78735	U78735	CCDS10466.1	CCDS10466.1	16p13.3	2012-03-14			2012-03-14			ENSG00000167972	ENSG00000167972	ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	"""ATP binding cassette transporters / subfamily A"""	33	33	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601615	601615		ABC3		ABC3		8706931	8706931	Standard	Standard	NM_001089	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	uc002cpy.1	Q99758	Q99758	OTTHUMG00000128845	OTTHUMG00000128845	ENST00000301732.5:c.2067C>T	16.37:g.2347526G>A			ABCA3_ENST00000382381.3_Silent_p.D631D	p.D689D	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN			17	2767	-		Ovarian(90;0.17)	689	ABC transporter 1.	B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	ENST00000301732.5	37	c.2067C>T	CCDS10466.1																																																																																									0.637	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2		19.626932	-34	-34	41	41	NM_001089		8	22.14979	22.149790	28	0.222222	0	0	0	1	0	8	28	0.222222
LRFN3	79414	broad.mit.edu	37	19	36430628	36430628	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:36430628G>A	ENST00000588831.1	+	3	1355	c.301G>A	c.(301-303)Ggc>Agc	p.G101S	LRFN3_ENST00000246529.3_Missense_Mutation_p.G101S			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	101					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CGTGGCTGCCGGCGCCTTCGC	0.697																																						ENST00000588831.1											0			cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(301-303)Ggc>Agc	leucine rich repeat and fibronectin type III domain containing 3						13.0	14.0	14.0					19																	36430628		2110	4112	6222	SO:0001583	missense	79414			cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane		g.chr19:36430628G>A	BC003578	BC003578	CCDS12483.1	CCDS12483.1	19q13.13	2013-02-11			2013-02-11				ENSG00000126243		ENSG00000126243		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28370	28370	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 1"""	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 1"""	612809	612809						12975309, 16495444, 16828986	12975309, 16495444, 16828986	Standard	Standard	NM_024509	NM_024509		Approved	MGC2656, SALM4, FIGLER1	uc002oco.3	uc002oco.3	Q9BTN0	Q9BTN0			ENST00000588831.1:c.301G>A	19.37:g.36430628G>A	ENSP00000466989:p.Gly101Ser		LRFN3_ENST00000246529.3_Missense_Mutation_p.G101S	p.G101S			Q9BTN0	LRFN3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		3	1355	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		101		Q6UY10	Missense_Mutation	SNP	ENST00000588831.1	37	c.301G>A	CCDS12483.1	.	.	.	.	.	.	.	.	.	.	G	3.104	-0.184233	0.06340	.	.	ENSG00000126243	ENST00000246529	T	0.58940	0.3	4.5	4.5	0.54988	4.5	4.5	0.54988	.	0.000000	0.35495	N	0.003172	T	0.45135	0.1327	L	0.49571	1.57	0.18873	N	0.999982	B	0.34264	0.446	B	0.24848	0.056	T	0.34650	-0.9820	10	0.23302	T	0.38	.	11.0601	0.47942	0.0:0.1885:0.8115:0.0	.	101	Q9BTN0	LRFN3_HUMAN	S	101	ENSP00000246529:G101S	ENSP00000246529:G101S	G	+	1	0	0	LRFN3	41122468	41122468	0.004000	0.15560	0.668000	0.29813	0.079000	0.17450	0.515000	0.22801	2.231000	0.72958	0.557000	0.71058	GGC		0.697	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457403.2		52.207092	21	21	52	52	NM_024509		16	52.797645	52.797645	8	0.666667	0	0	0	1	0	16	8	0.666667
ADCY9	115	broad.mit.edu	37	16	4164055	4164055	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:4164055G>A	ENST00000294016.3	-	2	1927	c.1389C>T	c.(1387-1389)atC>atT	p.I463I		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	463	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GGCCCATCTCGATGCAGCAGT	0.597																																						ENST00000294016.3											0			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1387-1389)atC>atT	adenylate cyclase 9						87.0	93.0	91.0					16																	4164055		2197	4300	6497	SO:0001819	synonymous_variant	115			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4164055G>A	AF036927	AF036927	CCDS32382.1	CCDS32382.1	16p13.3	2013-02-04			2013-02-04				ENSG00000162104		ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	"""Adenylate cyclases"""	240	240	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603302	603302						9628827	9628827	Standard	Standard	NM_001116	NM_001116		Approved	AC9	uc002cvx.3	uc002cvx.3	O60503	O60503			ENST00000294016.3:c.1389C>T	16.37:g.4164055G>A				p.I463I	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN			2	1927	-			463	Guanylate cyclase 1.	A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Silent	SNP	ENST00000294016.3	37	c.1389C>T	CCDS32382.1																																																																																									0.597	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1		5.309029	1	1	82	82			6	14.388341	14.388341	52	0.103448	0	0	0	1	0	6	52	0.103448
TCEB3CL	728929	broad.mit.edu	37	18	44549182	44549182	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr18:44549182C>T	ENST00000451265.1	-	1	1352	c.1117G>A	c.(1117-1119)Gat>Aat	p.D373N	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_001100817.1	NP_001094287.1	Q3SY89	EA3L1_HUMAN	transcription elongation factor B polypeptide 3C-like	373	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|lung(1)|prostate(1)	3						TACGGCTGATCGGGCGTCCAC	0.582																																						ENST00000451265.1											0			central_nervous_system(1)|lung(1)|prostate(1)	3						c.(1117-1119)Gat>Aat	transcription elongation factor B polypeptide 3C-like						260.0	221.0	234.0					18																	44549182		1740	3470	5210	SO:0001583	missense	728929						g.chr18:44549182C>T					18q21.1	2007-07-10			2007-07-10				ENSG00000275553		ENSG00000275553				31007	31007	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001100817	NM_001100817		Approved	HsT828			Q3SY89	Q3SY89			ENST00000451265.1:c.1117G>A	18.37:g.44549182C>T	ENSP00000409932:p.Asp373Asn		KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	p.D373N	NM_001100817.1	NP_001094287.1					1	1352	-					Q3MI93	Missense_Mutation	SNP	ENST00000451265.1	37	c.1117G>A	CCDS42433.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.502292	0.26949	.	.	ENSG00000234298	ENST00000451265	T	0.33654	1.4	1.5	-2.22	0.06952	1.5	-2.22	0.06952	.	1.096110	0.07174	N	0.852816	T	0.24431	0.0592	L	0.37697	1.125	0.09310	N	1	P	0.38078	0.617	B	0.29663	0.105	T	0.15983	-1.0418	10	0.48119	T	0.1	-5.2221	10.3053	0.43676	0.0:0.4154:0.5846:0.0	.	373	Q3SY89	EA3L1_HUMAN	N	373	ENSP00000409932:D373N	ENSP00000409932:D373N	D	-	1	0	0	TCEB3CL	42803180	42803180	1.000000	0.71417	0.000000	0.03702	0.000000	0.00434	1.782000	0.38654	-0.691000	0.05135	-1.169000	0.01745	GAT		0.582	TCEB3CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451071.1		6.861004	10	10	406	406	XM_001132059		19	42.915044	42.915044	193	0.089623	0	0	0	1	0	19	193	0.089623
LRP2BP	55805	broad.mit.edu	37	4	186295495	186295495	+	Nonsense_Mutation	SNP	G	G	A	rs201973995	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr4:186295495G>A	ENST00000328559.7	-	4	1262	c.451C>T	c.(451-453)Cga>Tga	p.R151*	RP11-714G18.1_ENST00000514884.1_RNA|LRP2BP_ENST00000505916.1_Nonsense_Mutation_p.R151*|LRP2BP_ENST00000510776.1_Nonsense_Mutation_p.R125*|LRP2BP_ENST00000362004.3_Nonsense_Mutation_p.R153*	NM_018409.3	NP_060879.2	Q9P2M1	LR2BP_HUMAN	LRP2 binding protein	151						cytoplasm (GO:0005737)				breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		TCATTTGATCGTTTAACACCT	0.388													G|||	2	0.000399361	0.0015	0.0	5008	,	,		19990	0.0		0.0	False		,,,				2504	0.0					ENST00000362004.3											0			breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15						c.(457-459)Cga>Tga	LRP2 binding protein	G	stop/ARG	2,4404	4.2+/-10.8	0,2,2201	180.0	170.0	173.0		451	4.7	0.2	4		173	0,8600		0,0,4300	yes	stop-gained	LRP2BP	NM_018409.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		151/348	186295495	2,13004	2203	4300	6503	SO:0001587	stop_gained	55805				cytoplasm	protein binding	g.chr4:186295495G>A	AB037746	AB037746	CCDS3840.1	CCDS3840.1	4q35.1	2011-05-03			2011-05-03			ENSG00000109771	ENSG00000109771	ENSG00000109771	ENSG00000109771				25434	25434	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										10718198, 12508107	10718198, 12508107	Standard	Standard	NM_018409	NM_018409		Approved	DKFZp761O0113	uc003ixj.2	uc003ixj.2	Q9P2M1	Q9P2M1	OTTHUMG00000160460	OTTHUMG00000160460	ENST00000328559.7:c.451C>T	4.37:g.186295495G>A	ENSP00000332681:p.Arg151*		RP11-714G18.1_ENST00000514884.1_RNA|LRP2BP_ENST00000505916.1_Nonsense_Mutation_p.R151*|LRP2BP_ENST00000510776.1_Nonsense_Mutation_p.R125*|LRP2BP_ENST00000328559.7_Nonsense_Mutation_p.R151*	p.R153*			Q9P2M1	LR2BP_HUMAN		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)	4	1268	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	151		A6NJR7|A7E219|B3KX83|Q9NSN6	Nonsense_Mutation	SNP	ENST00000328559.7	37	c.457C>T	CCDS3840.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	50	16.899404	0.99874	4.54E-4	0.0	ENSG00000109771	ENST00000362004;ENST00000328559;ENST00000510776;ENST00000505916;ENST00000511404	.	.	.	5.56	4.66	0.58398	5.56	4.66	0.58398	.	0.348304	0.28109	N	0.016572	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-5.8142	13.9676	0.64218	0.0:0.0:0.6787:0.3213	.	.	.	.	X	153;151;125;151;151	.	ENSP00000332681:R151X	R	-	1	2	2	LRP2BP	186532489	186532489	0.081000	0.21417	0.205000	0.23548	0.678000	0.39670	2.278000	0.43426	1.304000	0.44892	0.563000	0.77884	CGA		0.388	LRP2BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360679.2		77.565604	-25	-25	80	80	NM_018409		25	77.998302	77.998302	36	0.409836	0	0	0	1	0	25	36	0.409836
C3orf56	285311	broad.mit.edu	37	3	126915881	126915881	+	Missense_Mutation	SNP	C	C	T	rs371883407		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr3:126915881C>T	ENST00000398112.1	+	2	593	c.353C>T	c.(352-354)cCg>cTg	p.P118L		NM_001007534.2	NP_001007535.1	Q8N813	CC056_HUMAN	chromosome 3 open reading frame 56	118										breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		ATAGGAAGTCCGTATCTGGCT	0.597																																						ENST00000398112.1											0			breast(1)|endometrium(2)|kidney(1)|lung(5)	9						c.(352-354)cCg>cTg	chromosome 3 open reading frame 56	C		0,3794		0,0,1897	127.0	135.0	133.0			-0.4	0.0	3		133	1,8243		0,1,4121	no	intergenic				0,1,6018	TT,TC,CC		0.0121,0.0,0.0083			126915881	1,12037	1897	4122	6019	SO:0001583	missense	285311						g.chr3:126915881C>T	AK097460	AK097460	CCDS63757.1	CCDS63757.1	3q21.3	2012-08-08			2012-08-08			ENSG00000214324	ENSG00000214324	ENSG00000214324	ENSG00000214324				32481	32481	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										14702039	14702039	Standard	Standard	NM_001007534	NM_001007534		Approved	FLJ40141	uc003eji.1	uc003eji.1	Q8N813	Q8N813	OTTHUMG00000159593	OTTHUMG00000159593	ENST00000398112.1:c.353C>T	3.37:g.126915881C>T	ENSP00000381182:p.Pro118Leu			p.P118L	NM_001007534.2	NP_001007535.1				GBM - Glioblastoma multiforme(114;0.142)	2	593	+					B2RNW5	Missense_Mutation	SNP	ENST00000398112.1	37	c.353C>T		.	.	.	.	.	.	.	.	.	.	C	1.279	-0.610791	0.03690	0.0	1.21E-4	ENSG00000214324	ENST00000398112	.	.	.	2.04	-0.411	0.12370	2.04	-0.411	0.12370	.	.	.	.	.	T	0.11367	0.0277	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31110	-0.9955	7	0.02654	T	1	.	2.7604	0.05305	0.4743:0.2745:0.0:0.2512	.	118	Q8N813	CC056_HUMAN	L	118	.	ENSP00000381182:P118L	P	+	2	0	0	C3orf56	128398571	128398571	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.072000	0.11486	-0.108000	0.12066	-1.522000	0.00932	CCG		0.597	C3orf56-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000356354.1		207.511649	-48	-48	243	243			61	211.935273	211.935273	21	0.743902	0	0	0	1	0	61	21	0.743902
PPEF1	5475	broad.mit.edu	37	X	18775810	18775810	+	Silent	SNP	G	G	A	rs143899775		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:18775810G>A	ENST00000361511.4	+	8	956	c.462G>A	c.(460-462)ccG>ccA	p.P154P	PPEF1_ENST00000544635.1_Silent_p.P89P|PPEF1_ENST00000359763.6_Silent_p.P101P|PPEF1_ENST00000543630.1_Silent_p.P154P|PPEF1_ENST00000349874.5_Silent_p.P154P	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	154	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					AGCAAATGCCGAATTTCACTC	0.413													G|||	3	0.000794702	0.0023	0.0	3775	,	,		13880	0.0		0.0	False		,,,				2504	0.0					ENST00000361511.4											0			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43						c.(460-462)ccG>ccA	protein phosphatase, EF-hand calcium binding domain 1	G	,,	3,3832		0,3,1629,571	214.0	200.0	205.0		462,462,462	-7.4	0.1	X	dbSNP_134	205	0,6728		0,0,2428,1872	no	coding-synonymous,coding-synonymous,coding-synonymous	PPEF1	NM_006240.2,NM_152224.1,NM_152226.1	,,	0,3,4057,2443	AA,AG,GG,G		0.0,0.0782,0.0284	,,	154/654,154/626,154/592	18775810	3,10560	2203	4300	6503	SO:0001819	synonymous_variant	5475			detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chrX:18775810G>A	BC036026	BC036026	CCDS14188.1, CCDS43920.1	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			2013-01-10			ENSG00000086717	ENSG00000086717	ENSG00000086717	ENSG00000086717		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9243	9243	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, alpha isozyme"""	"""protein phosphatase 7, catalytic subunit, alpha isozyme"""	300109	300109		PPEF		PPEF		9215685, 9326663	9215685, 9326663	Standard	Standard	NM_152224	NM_152224		Approved	PPP7CA	uc004cyq.3	uc004cyq.3	O14829	O14829	OTTHUMG00000021219	OTTHUMG00000021219	ENST00000361511.4:c.462G>A	X.37:g.18775810G>A			PPEF1_ENST00000359763.6_Silent_p.P101P|PPEF1_ENST00000543630.1_Silent_p.P154P|PPEF1_ENST00000349874.5_Silent_p.P154P|PPEF1_ENST00000544635.1_Silent_p.P89P	p.P154P	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN			8	956	+	Hepatocellular(33;0.183)		154	Catalytic.	A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Silent	SNP	ENST00000361511.4	37	c.462G>A	CCDS14188.1																																																																																									0.413	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055953.3		279.553652	1	1	224	224	NM_006240		89	280.223204	280.223204	114	0.438424	0	0	0	1	0	89	114	0.438424
ERAP2	64167	broad.mit.edu	37	5	96219534	96219534	+	Missense_Mutation	SNP	G	G	A	rs73150323	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:96219534G>A	ENST00000437043.3	+	3	1325	c.614G>A	c.(613-615)cGc>cAc	p.R205H	ERAP2_ENST00000379904.4_Missense_Mutation_p.R205H|ERAP2_ENST00000510309.1_Missense_Mutation_p.R205H|CTD-2260A17.2_ENST00000501338.1_Intron	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	205					antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|regulation of blood pressure (GO:0008217)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		ACCCAGGCACGCATGGCTTTC	0.438													G|||	2	0.000399361	0.0015	0.0	5008	,	,		20307	0.0		0.0	False		,,,				2504	0.0					ENST00000437043.3											0			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(613-615)cGc>cAc	endoplasmic reticulum aminopeptidase 2	G	HIS/ARG,HIS/ARG	4,4402	8.1+/-20.4	0,4,2199	89.0	83.0	86.0		614,614	3.3	0.0	5	dbSNP_130	86	0,8600		0,0,4300	yes	missense,missense	ERAP2	NM_001130140.1,NM_022350.3	29,29	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	probably-damaging,probably-damaging	205/961,205/961	96219534	4,13002	2203	4300	6503	SO:0001583	missense	64167			antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96219534G>A	AF191545	AF191545	CCDS4086.1	CCDS4086.1	5q15	2007-11-21			2007-11-21			ENSG00000164308	ENSG00000164308	ENSG00000164308	ENSG00000164308				29499	29499	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""leukocyte-derived arginine aminopeptidase"""	"""leukocyte-derived arginine aminopeptidase"""	609497	609497						12799365, 15908954	12799365, 15908954	Standard	Standard	NM_022350	NM_022350		Approved	L-RAP, LRAP	uc003kmt.3	uc003kmt.3	Q6P179	Q6P179	OTTHUMG00000128718	OTTHUMG00000128718	ENST00000437043.3:c.614G>A	5.37:g.96219534G>A	ENSP00000400376:p.Arg205His		ERAP2_ENST00000510309.1_Missense_Mutation_p.R205H|ERAP2_ENST00000379904.4_Missense_Mutation_p.R205H|CTD-2260A17.2_ENST00000501338.1_Intron	p.R205H	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN		COAD - Colon adenocarcinoma(37;0.0703)	3	1325	+		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)	205		Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Missense_Mutation	SNP	ENST00000437043.3	37	c.614G>A	CCDS4086.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	24.3	4.521248	0.85600	9.08E-4	0.0	ENSG00000164308	ENST00000437043;ENST00000510373;ENST00000513084;ENST00000379904;ENST00000510309	T;T;T;T;T	0.11063	2.87;2.87;2.87;2.81;2.87	5.13	3.26	0.37387	5.13	3.26	0.37387	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.178796	0.36854	N	0.002371	T	0.49813	0.1579	H	0.99368	4.535	0.39718	D	0.971428	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.65030	-0.6267	10	0.87932	D	0	.	9.8843	0.41253	0.1812:0.0:0.8188:0.0	.	205;205	Q6P179-3;Q6P179	.;ERAP2_HUMAN	H	205	ENSP00000400376:R205H;ENSP00000421175:R205H;ENSP00000421849:R205H;ENSP00000369235:R205H;ENSP00000425758:R205H	ENSP00000369235:R205H	R	+	2	0	0	ERAP2	96245290	96245290	0.888000	0.30383	0.011000	0.14972	0.962000	0.63368	4.905000	0.63286	0.593000	0.29745	0.557000	0.71058	CGC		0.438	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250623.2		47.157135	-7	-7	61	61	NM_022350		17	48.412201	48.412201	34	0.333333	0	0	0	1	0	17	34	0.333333
SBSPON	157869	broad.mit.edu	37	8	73993379	73993379	+	Missense_Mutation	SNP	C	C	T	rs34728970		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr8:73993379C>T	ENST00000297354.6	-	2	488	c.284G>A	c.(283-285)cGt>cAt	p.R95H	RP11-956J14.1_ENST00000442274.1_RNA|SBSPON_ENST00000519697.1_5'UTR	NM_153225.3	NP_694957.3	Q8IVN8	SBSPO_HUMAN	somatomedin B and thrombospondin, type 1 domain containing	95	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				immune response (GO:0006955)	proteinaceous extracellular matrix (GO:0005578)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)										CCTCCGCACACGGGTTGTAGG	0.652																																						ENST00000297354.6											0										c.(283-285)cGt>cAt	somatomedin B and thrombospondin, type 1 domain containing						65.0	72.0	70.0					8																	73993379		2021	4174	6195	SO:0001583	missense	157869			immune response	extracellular region	polysaccharide binding|scavenger receptor activity	g.chr8:73993379C>T			CCDS43747.2	CCDS43747.2	8q21.11	2013-08-07	2012-05-15	2012-05-15	2013-08-07	2012-05-15	2012-05-15	ENSG00000164764	ENSG00000164764	ENSG00000164764	ENSG00000164764				30362	30362	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""RPE spondin"", ""rpe-spondin"""	"""RPE spondin"", ""rpe-spondin"""			"""chromosome 8 open reading frame 84"""	C8orf84	"""chromosome 8 open reading frame 84"""	C8orf84		12107410	12107410	Standard	Standard	NM_153225	NM_153225		Approved	RPESP	uc003xzf.3	uc003xzf.3	Q8IVN8	Q8IVN8	OTTHUMG00000157144	OTTHUMG00000157144	ENST00000297354.6:c.284G>A	8.37:g.73993379C>T	ENSP00000297354:p.Arg95His		SBSPON_ENST00000519697.1_5'UTR	p.R95H	NM_153225.3	NP_694957.3	Q8IVN8	RPESP_HUMAN			2	488	-			95	TSP type-1.	A8KAA5|Q96J64	Missense_Mutation	SNP	ENST00000297354.6	37	c.284G>A	CCDS43747.2	.	.	.	.	.	.	.	.	.	.	C	28.1	4.888198	0.91814	.	.	ENSG00000164764	ENST00000297354	T	0.21191	2.02	5.29	4.4	0.53042	5.29	4.4	0.53042	.	0.118037	0.56097	D	0.000031	T	0.44117	0.1278	M	0.80982	2.52	0.80722	D	1	D	0.67145	0.996	P	0.58077	0.832	T	0.52026	-0.8630	10	0.66056	D	0.02	-5.0986	15.3079	0.74008	0.1412:0.8588:0.0:0.0	.	95	Q8IVN8	RPESP_HUMAN	H	95	ENSP00000297354:R95H	ENSP00000297354:R95H	R	-	2	0	0	C8orf84	74155933	74155933	1.000000	0.71417	0.971000	0.41717	0.926000	0.56050	5.388000	0.66249	1.204000	0.43247	0.591000	0.81541	CGT		0.652	SBSPON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347584.2		43.478442	-2	-2	112	112	NM_153225		16	45.632269	45.632269	39	0.290909	0	0	0	1	0	16	39	0.290909
PLEK2	26499	broad.mit.edu	37	14	67862208	67862208	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr14:67862208G>A	ENST00000216446.4	-	3	440	c.300C>T	c.(298-300)acC>acT	p.T100T	PLEK2_ENST00000557388.1_5'Flank	NM_016445.1	NP_057529.1	Q9NYT0	PLEK2_HUMAN	pleckstrin 2	100	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.T100T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	15				all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)		GAATAGCCCCGGTGATCTCAA	0.597																																						ENST00000216446.4											1	Substitution - coding silent(1)	NS(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	15						c.(298-300)acC>acT	pleckstrin 2						90.0	89.0	89.0					14																	67862208		2203	4300	6503	SO:0001819	synonymous_variant	26499			actin cytoskeleton organization|intracellular signal transduction	cytoplasm|cytoskeleton|lamellipodium membrane		g.chr14:67862208G>A	AF228603	AF228603	CCDS9782.1	CCDS9782.1	14q23.3	2014-08-12			2014-08-12			ENSG00000100558	ENSG00000100558	ENSG00000100558	ENSG00000100558		"""Pleckstrin homology (PH) domain containing"""	"""Pleckstrin homology (PH) domain containing"""	19238	19238	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608007	608007						11911883, 17658464	11911883, 17658464	Standard	Standard	NM_016445	NM_016445		Approved		uc001xjh.1	uc001xjh.1	Q9NYT0	Q9NYT0	OTTHUMG00000171247	OTTHUMG00000171247	ENST00000216446.4:c.300C>T	14.37:g.67862208G>A				p.T100T	NM_016445.1	NP_057529.1	Q9NYT0	PLEK2_HUMAN		all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	3	440	-			100	PH 1.	Q96JT0	Silent	SNP	ENST00000216446.4	37	c.300C>T	CCDS9782.1																																																																																									0.597	PLEK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412547.2		-3.564476	-26	-26	87	87			5	11.283531	11.283531	71	0.065789	0	0	0	1	0	5	71	0.065789
EMC1	23065	broad.mit.edu	37	1	19557911	19557911	+	Silent	SNP	C	C	T	rs150315726		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:19557911C>T	ENST00000477853.1	-	16	1830	c.1788G>A	c.(1786-1788)tcG>tcA	p.S596S	EMC1_ENST00000375208.3_Silent_p.S574S|EMC1_ENST00000375199.3_Silent_p.S595S|RP1-43E13.2_ENST00000437898.1_RNA	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	596						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											AACTCATTCCCGACTCCTAAA	0.502																																						ENST00000477853.1											0										c.(1786-1788)tcG>tcA	ER membrane protein complex subunit 1	C		2,4404	4.2+/-10.8	0,2,2201	40.0	41.0	40.0		1788	-3.8	1.0	1	dbSNP_134	40	0,8600		0,0,4300	no	coding-synonymous	KIAA0090	NM_015047.1		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		596/994	19557911	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23065						g.chr1:19557911C>T			CCDS190.1, CCDS59190.1, CCDS59191.1	CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463	ENSG00000127463	ENSG00000127463				28957	28957	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""KIAA0090"""	KIAA0090	"""KIAA0090"""	KIAA0090		22119785	22119785	Standard	Standard	NM_015047	NM_015047		Approved		uc001bbo.4	uc001bbo.4	Q8N766	Q8N766	OTTHUMG00000002497	OTTHUMG00000002497	ENST00000477853.1:c.1788G>A	1.37:g.19557911C>T			RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375208.3_Silent_p.S574S|EMC1_ENST00000375199.3_Silent_p.S595S	p.S596S	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1					16	1830	-					A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Silent	SNP	ENST00000477853.1	37	c.1788G>A	CCDS190.1	.	.	.	.	.	.	.	.	.	.	C	8.021	0.759725	0.15846	4.54E-4	0.0	ENSG00000127463	ENST00000375197	.	.	.	4.87	-3.78	0.04333	4.87	-3.78	0.04333	.	.	.	.	.	T	0.40145	0.1105	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38757	-0.9646	4	.	.	.	.	3.5369	0.07796	0.1244:0.1479:0.1236:0.6041	.	.	.	.	R	330	.	.	G	-	1	0	0	KIAA0090	19430498	19430498	0.007000	0.16637	0.994000	0.49952	0.801000	0.45260	-1.550000	0.02180	-0.239000	0.09710	0.462000	0.41574	GGG		0.502	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007076.2		24.901521	-9	-9	35	35	NM_015047		8	25.052987	25.052987	5	0.615385	0	0	0	1	0	8	5	0.615385
KIRREL	55243	broad.mit.edu	37	1	158047863	158047863	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:158047863C>T	ENST00000359209.6	+	3	352	c.285C>T	c.(283-285)gaC>gaT	p.D95D	KIRREL_ENST00000392272.2_Silent_p.D95D|KIRREL_ENST00000368173.3_Silent_p.D95D|KIRREL_ENST00000416935.2_Intron|KIRREL_ENST00000360089.4_Silent_p.D34D			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	95	Ig-like C2-type 1.				excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					TCTCTGACGACGCCTCTTACG	0.612																																						ENST00000368173.3											0			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38						c.(283-285)gaC>gaT	kin of IRRE like (Drosophila)						126.0	114.0	118.0					1																	158047863		2203	4300	6503	SO:0001819	synonymous_variant	55243				integral to membrane		g.chr1:158047863C>T	AK001707	AK001707	CCDS1172.2, CCDS72952.1	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			2013-01-29			ENSG00000183853	ENSG00000183853	ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	15734	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	"""nephrin-like protein 1"""	607428	607428						12424224	12424224	Standard	Standard	NM_001286349	NM_001286349		Approved	NEPH1	uc001frn.4	uc001frn.4	Q96J84	Q96J84	OTTHUMG00000022438	OTTHUMG00000022438	ENST00000359209.6:c.285C>T	1.37:g.158047863C>T			KIRREL_ENST00000392272.2_Silent_p.D95D|KIRREL_ENST00000359209.6_Silent_p.D95D|KIRREL_ENST00000360089.4_Silent_p.D34D|KIRREL_ENST00000416935.2_Intron	p.D95D	NM_018240.5	NP_060710.3	Q96J84	KIRR1_HUMAN			3	689	+	all_hematologic(112;0.0378)		95	Ig-like C2-type 1.	Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Silent	SNP	ENST00000359209.6	37	c.285C>T	CCDS1172.2																																																																																									0.612	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3		144.649573	-1	-1	110	110	NM_018240		46	144.651868	144.651868	47	0.494624	0	0	0	1	0	46	47	0.494624
ATF7IP	55729	broad.mit.edu	37	12	14650705	14650705	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:14650705G>A	ENST00000540793.1	+	14	3666	c.3511G>A	c.(3511-3513)Gtt>Att	p.V1171I	ATF7IP_ENST00000536444.1_Missense_Mutation_p.V1170I|ATF7IP_ENST00000544627.1_Missense_Mutation_p.V1179I|ATF7IP_ENST00000261168.4_Missense_Mutation_p.V1171I			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	1171	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Interaction with MBD1.				DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						GTTAGCACGCGTTCAGAGTCA	0.532																																						ENST00000544627.1											0			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						c.(3535-3537)Gtt>Att	activating transcription factor 7 interacting protein						183.0	150.0	161.0					12																	14650705		2203	4300	6503	SO:0001583	missense	55729			DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14650705G>A	AJ242978	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18			2005-11-18				ENSG00000171681		ENSG00000171681				20092	20092	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613644	613644						10976766, 10777215	10976766, 10777215	Standard	Standard	XM_005253424	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	uc001rbw.3	Q6VMQ6	Q6VMQ6			ENST00000540793.1:c.3511G>A	12.37:g.14650705G>A	ENSP00000444589:p.Val1171Ile		ATF7IP_ENST00000261168.4_Missense_Mutation_p.V1171I|ATF7IP_ENST00000540793.1_Missense_Mutation_p.V1171I|ATF7IP_ENST00000536444.1_Missense_Mutation_p.V1170I	p.V1179I			Q6VMQ6	MCAF1_HUMAN			15	3855	+			1171	Fibronectin type-III.|Interaction with MBD1.	F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	c.3535G>A	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.600276	0.87055	.	.	ENSG00000171681	ENST00000261168;ENST00000536444;ENST00000544627;ENST00000540793	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	6.08	6.08	0.98989	6.08	6.08	0.98989	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000027	T	0.50820	0.1638	L	0.41573	1.285	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.987	T	0.44267	-0.9339	10	0.87932	D	0	-19.1858	20.6634	0.99662	0.0:0.0:1.0:0.0	.	1170;1171	G3V1U0;Q6VMQ6	.;MCAF1_HUMAN	I	1171;1170;1179;1171	ENSP00000261168:V1171I;ENSP00000445955:V1170I;ENSP00000440440:V1179I;ENSP00000444589:V1171I	ENSP00000261168:V1171I	V	+	1	0	0	ATF7IP	14541972	14541972	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	7.857000	0.86963	2.894000	0.99253	0.655000	0.94253	GTT		0.532	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1		62.297505	-13	-13	39	39	NM_018179		20	62.342892	62.342892	23	0.465116	0	0	0	1	0	20	23	0.465116
DLGAP3	58512	broad.mit.edu	37	1	35365688	35365688	+	Missense_Mutation	SNP	C	C	T	rs377551672		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:35365688C>T	ENST00000373347.1	-	4	1562	c.1294G>A	c.(1294-1296)Gtg>Atg	p.V432M	DLGAP3_ENST00000235180.4_Missense_Mutation_p.V432M			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	432					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GCCTGGTCCACGCTGGAGGAG	0.647																																						ENST00000373347.1											0			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46						c.(1294-1296)Gtg>Atg	discs, large (Drosophila) homolog-associated protein 3	C	MET/VAL	0,4406		0,0,2203	59.0	56.0	57.0		1294	4.6	1.0	1		57	1,8599	1.2+/-3.3	0,1,4299	no	missense	DLGAP3	NM_001080418.1	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	432/980	35365688	1,13005	2203	4300	6503	SO:0001583	missense	58512			cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		g.chr1:35365688C>T	AF131778	AF131778	CCDS30670.1	CCDS30670.1	1p35.3-p34.1	2008-02-05			2008-02-05			ENSG00000116544	ENSG00000116544	ENSG00000116544	ENSG00000116544				30368	30368	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611413	611413						8619474, 9110174	8619474, 9110174	Standard	Standard	NM_001080418	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	uc001byc.3	O95886	O95886	OTTHUMG00000004049	OTTHUMG00000004049	ENST00000373347.1:c.1294G>A	1.37:g.35365688C>T	ENSP00000362444:p.Val432Met		DLGAP3_ENST00000235180.4_Missense_Mutation_p.V432M	p.V432M			O95886	DLGP3_HUMAN			4	1562	-		Myeloproliferative disorder(586;0.0393)	432		Q5TDD5|Q9H3X7	Missense_Mutation	SNP	ENST00000373347.1	37	c.1294G>A	CCDS30670.1	.	.	.	.	.	.	.	.	.	.	C	12.05	1.821795	0.32237	0.0	1.16E-4	ENSG00000116544	ENST00000373347;ENST00000235180;ENST00000542913	D;D	0.89270	-2.49;-2.49	4.57	4.57	0.56435	4.57	4.57	0.56435	.	1.186950	0.06037	N	0.654190	D	0.83603	0.5290	N	0.24115	0.695	0.37404	D	0.912954	B	0.30851	0.297	B	0.19391	0.025	T	0.68704	-0.5338	10	0.29301	T	0.29	-10.5228	17.5202	0.87784	0.0:1.0:0.0:0.0	.	432	O95886	DLGP3_HUMAN	M	432;432;115	ENSP00000362444:V432M;ENSP00000235180:V432M	ENSP00000235180:V432M	V	-	1	0	0	DLGAP3	35138275	35138275	0.998000	0.40836	0.987000	0.45799	0.986000	0.74619	2.699000	0.47077	2.361000	0.80049	0.462000	0.41574	GTG		0.647	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1		26.066116	1	1	54	54	NM_021234		9	26.730275	26.730275	18	0.333333	0	0	0	1	0	9	18	0.333333
TLN2	83660	broad.mit.edu	37	15	63029131	63029131	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr15:63029131G>A	ENST00000561311.1	+	28	3643	c.3413G>A	c.(3412-3414)cGt>cAt	p.R1138H	TLN2_ENST00000306829.6_Missense_Mutation_p.R1138H|TLN2_ENST00000559908.1_3'UTR			Q9Y4G6	TLN2_HUMAN	talin 2	1138	Ala-rich.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CAGGCCGCCCGTGGAGTGGCT	0.582																																						ENST00000561311.1											0			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(3412-3414)cGt>cAt	talin 2						32.0	36.0	34.0					15																	63029131		2203	4300	6503	SO:0001583	missense	83660			cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63029131G>A	AB002318	AB002318	CCDS32261.1	CCDS32261.1	15q15-q21	2008-07-03			2008-07-03			ENSG00000171914	ENSG00000171914	ENSG00000171914	ENSG00000171914				15447	15447	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607349	607349						9205841, 11527381	9205841, 11527381	Standard	Standard	NM_015059	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	uc002alb.4	Q9Y4G6	Q9Y4G6	OTTHUMG00000133679	OTTHUMG00000133679	ENST00000561311.1:c.3413G>A	15.37:g.63029131G>A	ENSP00000453508:p.Arg1138His		TLN2_ENST00000559908.1_3'UTR|TLN2_ENST00000306829.6_Missense_Mutation_p.R1138H	p.R1138H			Q9Y4G6	TLN2_HUMAN			28	3643	+			1138	Ala-rich.	A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.3413G>A	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148716	0.78001	.	.	ENSG00000171914	ENST00000306829	T	0.15139	2.45	5.42	5.42	0.78866	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.39886	0.1095	M	0.66378	2.025	0.58432	D	0.999999	D	0.71674	0.998	P	0.62885	0.908	T	0.05321	-1.0892	10	0.40728	T	0.16	-14.792	19.2437	0.93893	0.0:0.0:1.0:0.0	.	1138	Q9Y4G6	TLN2_HUMAN	H	1138	ENSP00000303476:R1138H	ENSP00000303476:R1138H	R	+	2	0	0	TLN2	60816423	60816423	1.000000	0.71417	0.995000	0.50966	0.963000	0.63663	8.029000	0.88807	2.545000	0.85829	0.591000	0.81541	CGT		0.582	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2		66.205498	-3	-3	54	54			21	66.433595	66.433595	15	0.583333	0	0	0	1	0	21	15	0.583333
DCTN1	1639	broad.mit.edu	37	2	74593736	74593736	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:74593736C>T	ENST00000361874.3	-	22	2795	c.2478G>A	c.(2476-2478)acG>acA	p.T826T	DCTN1_ENST00000409240.1_Silent_p.T789T|DCTN1_ENST00000409438.1_Silent_p.T692T|DCTN1_ENST00000394003.3_Silent_p.T819T|DCTN1_ENST00000495643.1_Intron|DCTN1_ENST00000409868.1_Silent_p.T809T|DCTN1_ENST00000409567.3_Silent_p.T806T|DCTN1_ENST00000407639.2_Silent_p.T692T	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	826					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						AGTCTAGGAGCGTGTCAGATA	0.572																																						ENST00000361874.3											0			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						c.(2476-2478)acG>acA	dynactin 1						131.0	130.0	130.0					2																	74593736		2203	4300	6503	SO:0001819	synonymous_variant	1639			cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74593736C>T			CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843	ENSG00000204843	ENSG00000204843				2711	2711	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	"""p150 glued homolog (Drosophila)"""	601143	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""		"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	1828535	Standard	Standard	NM_001190836	NM_001190836		Approved		uc002skx.3	uc002skx.3	Q14203	Q14203	OTTHUMG00000129963	OTTHUMG00000129963	ENST00000361874.3:c.2478G>A	2.37:g.74593736C>T			DCTN1_ENST00000495643.1_Intron|DCTN1_ENST00000409567.3_Silent_p.T806T|DCTN1_ENST00000409868.1_Silent_p.T809T|DCTN1_ENST00000409438.1_Silent_p.T692T|DCTN1_ENST00000409240.1_Silent_p.T789T|DCTN1_ENST00000394003.3_Silent_p.T819T|DCTN1_ENST00000407639.2_Silent_p.T692T	p.T826T	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN			22	2795	-			826		A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Silent	SNP	ENST00000361874.3	37	c.2478G>A	CCDS1939.1																																																																																									0.572	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3		156.372665	-28	-28	187	187	NM_004082		52	157.282989	157.282989	75	0.409449	0	0	0	1	0	52	75	0.409449
TTN	7273	broad.mit.edu	37	2	179423251	179423251	+	Missense_Mutation	SNP	C	C	T	rs201687390		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:179423251C>T	ENST00000591111.1	-	277	82236	c.82012G>A	c.(82012-82014)Gtt>Att	p.V27338I	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V28979I|TTN_ENST00000342992.6_Missense_Mutation_p.V26411I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V19914I|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V20106I|TTN_ENST00000359218.5_Missense_Mutation_p.V20039I|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27338	Fibronectin type-III 99. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTGCTTCAACGACATAGTGT	0.428																																						ENST00000589042.1											0			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(86935-86937)Gtt>Att	titin	C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	2,3790		0,2,1894	128.0	123.0	124.0		60316,60115,79231,59740	3.0	0.4	2		124	1,8267		0,1,4133	yes	missense,missense,missense,missense	TTN	NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4	29,29,29,29	0,3,6027	TT,TC,CC		0.0121,0.0527,0.0249	benign,benign,benign,benign	20106/27119,20039/27052,26411/33424,19914/26927	179423251	3,12057	1896	4134	6030	SO:0001583	missense	7273					ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179423251C>T	X90568	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	12403	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			188840	188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	2129545, 10051295	Standard	Standard	NM_003319	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	uc031rqd.1	Q8WZ42	Q8WZ42	OTTHUMG00000154448	OTTHUMG00000154448	ENST00000591111.1:c.82012G>A	2.37:g.179423251C>T	ENSP00000465570:p.Val27338Ile		TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V20106I|TTN_ENST00000359218.5_Missense_Mutation_p.V20039I|TTN_ENST00000591111.1_Missense_Mutation_p.V27338I|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V26411I|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V19914I|TTN-AS1_ENST00000592600.1_RNA	p.V28979I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		327	87159	-			27338	Fibronectin type-III 111.	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.86935G>A		.	.	.	.	.	.	.	.	.	.	C	10.88	1.476783	0.26511	5.27E-4	1.21E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60672	0.17;0.17;0.17;0.17	5.76	2.97	0.34412	5.76	2.97	0.34412	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.35422	0.0931	N	0.11560	0.145	0.28859	N	0.895597	B;B;B;B	0.10296	0.003;0.003;0.003;0.003	B;B;B;B	0.09377	0.004;0.004;0.004;0.004	T	0.28332	-1.0047	9	0.87932	D	0	.	5.8362	0.18609	0.0:0.5185:0.1253:0.3562	.	19914;20039;20106;27338	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	26411;19914;20106;20039;19911	ENSP00000343764:V26411I;ENSP00000434586:V19914I;ENSP00000340554:V20106I;ENSP00000352154:V20039I	ENSP00000340554:V20106I	V	-	1	0	0	TTN	179131497	179131497	0.146000	0.22672	0.395000	0.26283	0.920000	0.55202	0.712000	0.25779	0.432000	0.26286	0.655000	0.94253	GTT		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		4.309415	-15	-15	32	32	NM_133378		3	7.127171	7.127171	19	0.136364	0	0	0	1	0	3	19	0.136364
OR10H1	26539	broad.mit.edu	37	19	15918449	15918449	+	Silent	SNP	G	G	A	rs187451101	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:15918449G>A	ENST00000334920.2	-	1	487	c.399C>T	c.(397-399)aaC>aaT	p.N133N		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	133						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N133N(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						TCATGAGCACGTTGTAGCGCA	0.637													.|||	4	0.000798722	0.0	0.0	5008	,	,		19565	0.004		0.0	False		,,,				2504	0.0					ENST00000334920.2											1	Substitution - coding silent(1)	large_intestine(1)	cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						c.(397-399)aaC>aaT	olfactory receptor, family 10, subfamily H, member 1	G		0,4406		0,0,2203	73.0	59.0	64.0		399	-6.1	0.0	19		64	2,8598		0,2,4298	no	coding-synonymous	OR10H1	NM_013940.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		133/319	15918449	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	26539			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15918449G>A	AC004510	AC004510	CCDS12335.1	CCDS12335.1	19p13.1	2012-08-09			2012-08-09				ENSG00000186723		ENSG00000186723		"""GPCR / Class A : Olfactory receptors"""	"""GPCR / Class A : Olfactory receptors"""	8172	8172	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_013940	NM_013940		Approved		uc002nbq.2	uc002nbq.2	Q9Y4A9	Q9Y4A9			ENST00000334920.2:c.399C>T	19.37:g.15918449G>A				p.N133N	NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN			1	487	-			133		Q6IFQ2|Q96R59	Silent	SNP	ENST00000334920.2	37	c.399C>T	CCDS12335.1																																																																																									0.637	OR10H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460364.1		10.558399	-19	-19	53	53			5	13.28085	13.280850	23	0.178571	0	0	0	1	0	5	23	0.178571
COX16	51241	broad.mit.edu	37	14	70809398	70809398	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr14:70809398G>A	ENST00000389912.6	-	2	261	c.118C>T	c.(118-120)Cga>Tga	p.R40*	SYNJ2BP-COX16_ENST00000555276.1_RNA|COX16_ENST00000557612.1_Intron	NM_016468.6	NP_057552.1	Q9P0S2	COX16_HUMAN	COX16 cytochrome c oxidase assembly homolog (S. cerevisiae)	40						integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)				large_intestine(1)|lung(2)	3						GCATCATATCGGATTTGAGAA	0.328																																						ENST00000389912.6											0			large_intestine(1)|lung(2)	3						c.(118-120)Cga>Tga	COX16 cytochrome c oxidase assembly homolog (S. cerevisiae)						88.0	93.0	92.0					14																	70809398		2203	4300	6503	SO:0001587	stop_gained	51241						g.chr14:70809398G>A	AF151037	AF151037	CCDS9802.1	CCDS9802.1	14q24.2	2013-05-10	2008-08-14	2008-06-23	2013-05-10	2008-08-14	2008-06-23	ENSG00000133983	ENSG00000133983	ENSG00000133983	ENSG00000133983				20213	20213	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""chromosome 14 open reading frame 112"""	C14orf112	"""chromosome 14 open reading frame 112"""	C14orf112		11042152, 15596615	11042152, 15596615	Standard	Standard	NM_016468	NM_016468		Approved	HSPC203			Q9P0S2	Q9P0S2	OTTHUMG00000171238	OTTHUMG00000171238	ENST00000389912.6:c.118C>T	14.37:g.70809398G>A	ENSP00000374562:p.Arg40*		COX16_ENST00000557612.1_Intron|SYNJ2BP-COX16_ENST00000555276.1_RNA	p.R40*	NM_016468.6	NP_057552.1					2	261	-					A6NDT5|A8K3X8	Nonsense_Mutation	SNP	ENST00000389912.6	37	c.118C>T	CCDS9802.1	.	.	.	.	.	.	.	.	.	.	G	36	5.966321	0.97156	.	.	ENSG00000133983	ENST00000389912	.	.	.	5.03	5.03	0.67393	5.03	5.03	0.67393	.	0.000000	0.48286	U	0.000183	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	4.7716	14.5908	0.68362	0.0:0.0:1.0:0.0	.	.	.	.	X	40	.	ENSP00000374562:R40X	R	-	1	2	2	COX16	69879151	69879151	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.583000	0.60964	2.726000	0.93360	0.655000	0.94253	CGA		0.328	COX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412470.2		44.947511	-1	-1	65	65	NM_016468		14	45.010582	45.010582	17	0.451613	0	0	0	1	0	14	17	0.451613
SPTBN4	57731	broad.mit.edu	37	19	41008365	41008365	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:41008365G>A	ENST00000352632.3	+	10	1240	c.1154G>A	c.(1153-1155)cGt>cAt	p.R385H	SPTBN4_ENST00000338932.3_Missense_Mutation_p.R385H|SPTBN4_ENST00000344104.3_Missense_Mutation_p.R385H|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R385H|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R385H			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	385					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCCTGCAACCGTCGCCTCTTT	0.602																																						ENST00000352632.3											0			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(1153-1155)cGt>cAt	spectrin, beta, non-erythrocytic 4						73.0	76.0	75.0					19																	41008365		2203	4300	6503	SO:0001583	missense	57731			actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41008365G>A	AF082075	AF082075	CCDS12559.1, CCDS42569.1	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10			2013-01-10				ENSG00000160460		ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	"""Pleckstrin homology (PH) domain containing"""	14896	14896	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606214	606214						11086001	11086001	Standard	Standard	NM_020971	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	uc002onz.3	Q9H254	Q9H254			ENST00000352632.3:c.1154G>A	19.37:g.41008365G>A	ENSP00000263373:p.Arg385His		SPTBN4_ENST00000344104.3_Missense_Mutation_p.R385H|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R385H|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R385H|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R385H	p.R385H			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		10	1240	+			385		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.1154G>A	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.834173	0.71373	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.50277	0.75;0.75;0.75	3.54	3.54	0.40534	3.54	3.54	0.40534	.	0.106112	0.37809	U	0.001926	T	0.63260	0.2496	L	0.60904	1.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72982	0.962;0.979	T	0.66881	-0.5811	10	0.56958	D	0.05	.	15.0565	0.71917	0.0:0.0:1.0:0.0	.	385;385	Q9H254;Q71S06	SPTN4_HUMAN;.	H	385	ENSP00000263373:R385H;ENSP00000340345:R385H;ENSP00000340741:R385H	ENSP00000340345:R385H	R	+	2	0	0	SPTBN4	45700205	45700205	0.564000	0.26602	0.996000	0.52242	0.859000	0.49053	1.119000	0.31258	2.283000	0.76528	0.563000	0.77884	CGT		0.602	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2		13.163805	-17	-17	94	94			8	20.279461	20.279461	49	0.140351	0	0	0	1	0	8	49	0.140351
PHKA2	5256	broad.mit.edu	37	X	18944633	18944633	+	Missense_Mutation	SNP	G	G	A	rs191267737		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:18944633G>A	ENST00000379942.4	-	14	2062	c.1397C>T	c.(1396-1398)gCg>gTg	p.A466V		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	466					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					ATGAATGTCCGCGATACTCTG	0.458													G|||	1	0.000264901	0.0	0.0	3775	,	,		15190	0.001		0.0	False		,,,				2504	0.0					ENST00000379942.4											0			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(1396-1398)gCg>gTg	phosphorylase kinase, alpha 2 (liver)						175.0	138.0	150.0					X																	18944633		2203	4300	6503	SO:0001583	missense	5256			glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18944633G>A			CCDS14190.1	CCDS14190.1	Xp22.2-p22.1	2009-07-10			2009-07-10			ENSG00000044446	ENSG00000044446	ENSG00000044446	ENSG00000044446	2.7.11.19			8926	8926	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300798	300798		PHK, PYK		PHK, PYK		2387090	2387090	Standard	Standard	NM_000292	NM_000292		Approved		uc004cyv.4	uc004cyv.4	P46019	P46019	OTTHUMG00000021222	OTTHUMG00000021222	ENST00000379942.4:c.1397C>T	X.37:g.18944633G>A	ENSP00000369274:p.Ala466Val			p.A466V	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN			14	2062	-	Hepatocellular(33;0.183)		466		A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	37	c.1397C>T	CCDS14190.1	1	6.027727546714888E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	16.32	3.091165	0.55968	.	.	ENSG00000044446	ENST00000379942	D	0.91180	-2.8	5.38	5.38	0.77491	5.38	5.38	0.77491	Glycoside hydrolase 15-related (1);	0.207947	0.51477	D	0.000087	D	0.89298	0.6675	M	0.80982	2.52	0.54753	D	0.999983	P	0.37233	0.588	B	0.30572	0.117	D	0.89015	0.3431	10	0.41790	T	0.15	-14.0755	13.7211	0.62728	0.0:0.1504:0.8496:0.0	.	466	P46019	KPB2_HUMAN	V	466	ENSP00000369274:A466V	ENSP00000369274:A466V	A	-	2	0	0	PHKA2	18854554	18854554	1.000000	0.71417	0.887000	0.34795	0.469000	0.32828	7.271000	0.78506	2.383000	0.81215	0.600000	0.82982	GCG		0.458	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1		12.117081	-20	-20	154	154	NM_000292		12	29.268562	29.268562	100	0.107143	0	0	0	1	0	12	100	0.107143
PCDH19	57526	broad.mit.edu	37	X	99662742	99662742	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:99662742G>A	ENST00000373034.4	-	1	2529	c.854C>T	c.(853-855)aCg>aTg	p.T285M	PCDH19_ENST00000420881.2_Missense_Mutation_p.T285M|PCDH19_ENST00000255531.7_Missense_Mutation_p.T285M	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	285	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GAGCTCGCGCGTGCGGTCGTT	0.612																																						ENST00000373034.4											0			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						c.(853-855)aCg>aTg	protocadherin 19						106.0	112.0	110.0					X																	99662742		2170	4247	6417	SO:0001583	missense	57526			homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99662742G>A	AB037734	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			2014-06-28			ENSG00000165194	ENSG00000165194	ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	"""Cadherins / Protocadherins : Non-clustered"""	14270	14270	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300460	300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	11549318, 18469813, 19752159	Standard	Standard	NM_020766	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	uc010nmz.3	Q8TAB3	Q8TAB3	OTTHUMG00000022000	OTTHUMG00000022000	ENST00000373034.4:c.854C>T	X.37:g.99662742G>A	ENSP00000362125:p.Thr285Met		PCDH19_ENST00000420881.2_Missense_Mutation_p.T285M|PCDH19_ENST00000255531.7_Missense_Mutation_p.T285M	p.T285M	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN			1	2529	-			285	Cadherin 3.	B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	c.854C>T	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.307851	0.60305	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.54071	0.59;0.64;0.59	5.95	5.95	0.96441	5.95	5.95	0.96441	Cadherin (4);Cadherin-like (1);	0.095982	0.64402	D	0.000001	T	0.70219	0.3199	M	0.63208	1.945	0.58432	D	0.999994	D;D;D	0.69078	0.997;0.965;0.972	D;P;P	0.63793	0.918;0.637;0.752	T	0.71556	-0.4557	10	0.66056	D	0.02	.	19.254	0.93938	0.0:0.0:1.0:0.0	.	285;285;285	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	M	285	ENSP00000400327:T285M;ENSP00000362125:T285M;ENSP00000255531:T285M	ENSP00000255531:T285M	T	-	2	0	0	PCDH19	99549398	99549398	1.000000	0.71417	0.538000	0.28064	0.811000	0.45836	6.733000	0.74796	2.498000	0.84270	0.513000	0.50165	ACG		0.612	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2		48.659946	-41	-41	91	91	NM_020766		20	53.382889	53.382889	61	0.246914	0	0	0	1	0	20	61	0.246914
KIAA1324L	222223	broad.mit.edu	37	7	86526871	86526871	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:86526871G>A	ENST00000450689.2	-	19	2821	c.2636C>T	c.(2635-2637)aCg>aTg	p.T879M	KIAA1324L_ENST00000297222.6_Missense_Mutation_p.T639M|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.T808M|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.T712M	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	879						integral component of membrane (GO:0016021)		p.T639M(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					GTCATGCTCCGTACACAGAGG	0.463																																						ENST00000450689.2											1	Substitution - Missense(1)	prostate(1)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						c.(2635-2637)aCg>aTg	KIAA1324-like						100.0	90.0	93.0					7																	86526871		2203	4300	6503	SO:0001583	missense	222223				integral to membrane		g.chr7:86526871G>A	AK055902	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			2008-09-18			ENSG00000164659	ENSG00000164659	ENSG00000164659	ENSG00000164659				21945	21945	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""EIG121-like"""	"""EIG121-like"""	614048	614048								Standard	Standard	NM_001142749	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	uc011kha.2	A8MWY0	A8MWY0	OTTHUMG00000153995	OTTHUMG00000153995	ENST00000450689.2:c.2636C>T	7.37:g.86526871G>A	ENSP00000413445:p.Thr879Met		KIAA1324L_ENST00000416314.1_Missense_Mutation_p.T712M|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.T808M|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.T639M	p.T879M	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN			19	2821	-	Esophageal squamous(14;0.0058)		879		A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	37	c.2636C>T	CCDS47632.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182074	0.78677	.	.	ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314	T;T;T;T	0.19394	2.42;2.16;2.15;2.16	5.37	5.37	0.77165	5.37	5.37	0.77165	.	0.104529	0.64402	D	0.000004	T	0.37210	0.0995	L	0.36672	1.1	0.58432	D	0.999996	D;D;D	0.76494	0.999;0.999;0.999	D;P;P	0.66497	0.944;0.855;0.855	T	0.08932	-1.0698	10	0.66056	D	0.02	.	18.1012	0.89505	0.0:0.0:1.0:0.0	.	879;639;712	A8MWY0;A8MWY0-2;B4DJV3	K132L_HUMAN;.;.	M	879;639;808;712	ENSP00000413445:T879M;ENSP00000297222:T639M;ENSP00000397377:T808M;ENSP00000402390:T712M	ENSP00000297222:T639M	T	-	2	0	0	KIAA1324L	86364807	86364807	1.000000	0.71417	0.972000	0.41901	0.987000	0.75469	5.667000	0.68067	2.524000	0.85096	0.650000	0.86243	ACG		0.463	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3		27.301989	13	13	53	53	NM_152748		11	30.16031	30.160310	35	0.239130	0	0	0	1	0	11	35	0.23913
BEND3	57673	broad.mit.edu	37	6	107390354	107390354	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:107390354G>A	ENST00000369042.1	-	4	2231	c.2041C>T	c.(2041-2043)Cgg>Tgg	p.R681W	BEND3_ENST00000429433.2_Missense_Mutation_p.R681W			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	681										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						AACTCCTCCCGGAACCTCTCG	0.637																																						ENST00000429433.2											0			central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						c.(2041-2043)Cgg>Tgg	BEN domain containing 3						27.0	32.0	30.0					6																	107390354		2197	4286	6483	SO:0001583	missense	57673						g.chr6:107390354G>A	AB046773	AB046773	CCDS34507.1	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409	ENSG00000178409	ENSG00000178409		"""BEN domain containing"""	"""BEN domain containing"""	23040	23040	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""KIAA1553"""	KIAA1553	"""KIAA1553"""	KIAA1553				Standard	Standard	NM_001080450	NM_001080450		Approved		uc003prs.2	uc003prs.2	Q5T5X7	Q5T5X7	OTTHUMG00000015308	OTTHUMG00000015308	ENST00000369042.1:c.2041C>T	6.37:g.107390354G>A	ENSP00000358038:p.Arg681Trp		BEND3_ENST00000369042.1_Missense_Mutation_p.R681W	p.R681W	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN			5	2690	-			681		A2RRH2|Q9HCL9	Missense_Mutation	SNP	ENST00000369042.1	37	c.2041C>T	CCDS34507.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.597851	0.46318	.	.	ENSG00000178409	ENST00000369042;ENST00000429433	.	.	.	4.62	3.72	0.42706	4.62	3.72	0.42706	.	0.065887	0.64402	D	0.000020	T	0.36110	0.0955	N	0.19112	0.55	0.41525	D	0.988425	D	0.69078	0.997	P	0.53490	0.727	T	0.42849	-0.9427	9	0.87932	D	0	-3.1108	11.9824	0.53127	0.0:0.0:0.5577:0.4423	.	681	Q5T5X7	BEND3_HUMAN	W	681	.	ENSP00000358038:R681W	R	-	1	2	2	BEND3	107497047	107497047	1.000000	0.71417	0.995000	0.50966	0.938000	0.57974	2.954000	0.49113	1.238000	0.43771	0.455000	0.32223	CGG		0.637	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041686.1		12.227919	-22	-22	42	42	NM_020913		6	16.019763	16.019763	30	0.166667	0	0	0	1	0	6	30	0.166667
RUNX1	861	broad.mit.edu	37	21	36171666	36171666	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr21:36171666G>A	ENST00000344691.4	-	5	2395	c.818C>T	c.(817-819)aCg>aTg	p.T273M	RUNX1_ENST00000437180.1_Missense_Mutation_p.T300M|RUNX1_ENST00000399240.1_Missense_Mutation_p.T209M|RUNX1_ENST00000325074.5_Missense_Mutation_p.T288M|RUNX1_ENST00000300305.3_Missense_Mutation_p.T300M	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	273	Pro/Ser/Thr-rich.				behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.T300fs*12(1)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						TGAAATGGGCGTTGCTGGGTG	0.522			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""																																	ENST00000344691.4		Dom	yes		21	21q22.3	861	runt-related transcription factor 1  (AML1)		L	1	Insertion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)	breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						c.(817-819)aCg>aTg	runt-related transcription factor 1						186.0	158.0	168.0					21																	36171666		2203	4300	6503	SO:0001583	missense	861			myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr21:36171666G>A	X79549	X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216	ENSG00000159216	ENSG00000159216				10471	10471	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""aml1 oncogene"""	"""aml1 oncogene"""	151385	151385	"""acute myeloid leukemia 1"""	AML1, CBFA2	"""acute myeloid leukemia 1"""	AML1, CBFA2		1427868, 7835892	1427868, 7835892	Standard	Standard	NM_001001890	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	uc010gmv.3	Q01196	Q01196	OTTHUMG00000086299	OTTHUMG00000086299	ENST00000344691.4:c.818C>T	21.37:g.36171666G>A	ENSP00000340690:p.Thr273Met		RUNX1_ENST00000437180.1_Missense_Mutation_p.T300M|RUNX1_ENST00000399240.1_Missense_Mutation_p.T209M|RUNX1_ENST00000325074.5_Missense_Mutation_p.T288M|RUNX1_ENST00000300305.3_Missense_Mutation_p.T300M	p.T273M	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN			5	2395	-			273	Pro/Ser/Thr-rich.	A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Missense_Mutation	SNP	ENST00000344691.4	37	c.818C>T	CCDS42922.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.022717	0.54683	.	.	ENSG00000159216	ENST00000344691;ENST00000300305;ENST00000437180;ENST00000325074;ENST00000399240;ENST00000431176;ENST00000399245	D;D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38;-2.38	5.78	5.78	0.91487	5.78	5.78	0.91487	.	0.201478	0.52532	D	0.000068	D	0.92724	0.7687	M	0.64567	1.98	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.994;1.0	P;P;P;P;P	0.57846	0.828;0.809;0.795;0.799;0.818	D	0.92793	0.6250	10	0.66056	D	0.02	-14.8679	19.6065	0.95583	0.0:0.0:1.0:0.0	.	276;168;300;288;273	C9JK12;Q01196-11;Q01196-8;Q01196-10;Q01196	.;.;.;.;RUNX1_HUMAN	M	273;300;300;288;209;34;276	ENSP00000340690:T273M;ENSP00000300305:T300M;ENSP00000409227:T300M;ENSP00000319459:T288M;ENSP00000382184:T209M	ENSP00000300305:T300M	T	-	2	0	0	RUNX1	35093536	35093536	1.000000	0.71417	0.905000	0.35620	0.981000	0.71138	5.201000	0.65163	2.731000	0.93534	0.650000	0.86243	ACG		0.522	RUNX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000194230.1		32.779473	11	11	101	101			15	39.469573	39.469573	62	0.194805	0	0	0	1	0	15	62	0.194805
VAV1	7409	broad.mit.edu	37	19	6836478	6836478	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:6836478G>A	ENST00000602142.1	+	20	1895	c.1813G>A	c.(1813-1815)Ggg>Agg	p.G605R	VAV1_ENST00000596764.1_Missense_Mutation_p.G573R|VAV1_ENST00000539284.1_Missense_Mutation_p.G508R|VAV1_ENST00000304076.2_Missense_Mutation_p.G605R|VAV1_ENST00000599806.1_Missense_Mutation_p.G550R	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	605					apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GGAATACTACGGGCTTCCTCC	0.557																																						ENST00000304076.2											0			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						c.(1813-1815)Ggg>Agg	vav 1 guanine nucleotide exchange factor						72.0	60.0	64.0					19																	6836478		2203	4300	6503	SO:0001583	missense	7409			apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6836478G>A			CCDS12174.1, CCDS59341.1, CCDS59342.1	CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25		2013-02-14	2007-07-25			ENSG00000141968		ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	12657	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			164875	164875	"""vav 1 oncogene"""	VAV	"""vav 1 oncogene"""	VAV		9438848	9438848	Standard	Standard	NM_005428	NM_005428		Approved		uc010xjh.2	uc010xjh.2	P15498	P15498			ENST00000602142.1:c.1813G>A	19.37:g.6836478G>A	ENSP00000472929:p.Gly605Arg		VAV1_ENST00000596764.1_Missense_Mutation_p.G573R|VAV1_ENST00000599806.1_Missense_Mutation_p.G550R|VAV1_ENST00000602142.1_Missense_Mutation_p.G605R|VAV1_ENST00000539284.1_Missense_Mutation_p.G508R	p.G605R	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN			20	1907	+			605		B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	c.1813G>A	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.376527	0.61735	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T;T	0.75589	1.44;-0.95	4.29	4.29	0.51040	4.29	4.29	0.51040	Src homology-3 domain (2);	0.183893	0.46442	D	0.000299	D	0.82472	0.5044	M	0.67700	2.07	0.49687	D	0.999813	D;D;D;D	0.76494	0.997;0.983;0.999;0.997	P;P;P;P	0.61397	0.826;0.552;0.888;0.888	D	0.85005	0.0902	10	0.72032	D	0.01	.	14.2896	0.66268	0.0:0.0:1.0:0.0	.	508;605;550;605	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	R	605;508	ENSP00000302269:G605R;ENSP00000443242:G508R	ENSP00000302269:G605R	G	+	1	0	0	VAV1	6787478	6787478	1.000000	0.71417	0.160000	0.22671	0.790000	0.44656	6.684000	0.74538	1.963000	0.57068	0.478000	0.44815	GGG		0.557	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1		5.512118	10	10	47	47			3	7.860565	7.860565	17	0.150000	0	0	0	1	0	3	17	0.15
KCNE3	10008	broad.mit.edu	37	11	74168452	74168452	+	Missense_Mutation	SNP	G	G	A	rs371666083		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:74168452G>A	ENST00000310128.4	-	3	576	c.157C>T	c.(157-159)Cgt>Tgt	p.R53C	KCNE3_ENST00000525550.1_Missense_Mutation_p.R53C|RP11-702H23.4_ENST00000533008.1_RNA|RP11-702H23.6_ENST00000530510.1_RNA	NM_005472.4	NP_005463.1	Q9Y6H6	KCNE3_HUMAN	potassium voltage-gated channel, Isk-related family, member 3	53					regulation of potassium ion transport (GO:0043266)	integral component of membrane (GO:0016021)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			cervix(1)|large_intestine(1)|lung(1)|ovary(1)	4	Breast(11;2.86e-06)					TTGTCATCACGGCCAGGTAGG	0.557																																						ENST00000310128.4											0			cervix(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(157-159)Cgt>Tgt	potassium voltage-gated channel, Isk-related family, member 3	G	CYS/ARG	0,4400		0,0,2200	72.0	63.0	66.0		157	4.4	0.9	11		66	1,8585	1.2+/-3.3	0,1,4292	no	missense	KCNE3	NM_005472.4	180	0,1,6492	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	53/104	74168452	1,12985	2200	4293	6493	SO:0001583	missense	10008				integral to membrane	voltage-gated potassium channel activity	g.chr11:74168452G>A	AF076531	AF076531	CCDS8232.1	CCDS8232.1	11q13.4	2014-09-17			2014-09-17				ENSG00000175538		ENSG00000175538		"""Potassium channels"""	"""Potassium channels"""	6243	6243	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604433	604433						10219239	10219239	Standard	Standard	NM_005472	NM_005472		Approved	MiRP2, HOKPP	uc001ovc.3	uc001ovc.3	Q9Y6H6	Q9Y6H6			ENST00000310128.4:c.157C>T	11.37:g.74168452G>A	ENSP00000310557:p.Arg53Cys		KCNE3_ENST00000525550.1_Missense_Mutation_p.R53C|RP11-702H23.4_ENST00000533008.1_RNA	p.R53C	NM_005472.4	NP_005463.1	Q9Y6H6	KCNE3_HUMAN			3	576	-	Breast(11;2.86e-06)		53			Missense_Mutation	SNP	ENST00000310128.4	37	c.157C>T	CCDS8232.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.475627	0.63737	0.0	1.16E-4	ENSG00000175538	ENST00000310128;ENST00000525550;ENST00000532569	D;D;D	0.92249	-3.0;-3.0;-3.0	5.33	4.42	0.53409	5.33	4.42	0.53409	.	0.080554	0.51477	D	0.000093	D	0.88097	0.6345	L	0.54323	1.7	0.45690	D	0.9986	B	0.21753	0.06	B	0.15484	0.013	D	0.85115	0.0965	10	0.87932	D	0	-15.8816	6.9987	0.24797	0.0859:0.0:0.7444:0.1696	.	53	Q9Y6H6	KCNE3_HUMAN	C	53	ENSP00000310557:R53C;ENSP00000433633:R53C;ENSP00000431739:R53C	ENSP00000310557:R53C	R	-	1	0	0	KCNE3	73846100	73846100	1.000000	0.71417	0.928000	0.36995	0.691000	0.40173	2.888000	0.48594	1.485000	0.48380	0.561000	0.74099	CGT		0.557	KCNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385531.1		41.257627	5	5	47	47	NM_005472		13	41.257627	41.257627	13	0.500000	0	0	0	1	0	13	13	0.5
TMTC3	160418	broad.mit.edu	37	12	88566445	88566445	+	Silent	SNP	C	C	T	rs376400054		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:88566445C>T	ENST00000266712.6	+	8	1342	c.1122C>T	c.(1120-1122)gcC>gcT	p.A374A		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	374					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						TTGTTGTTGCCGAGCGAGTAT	0.353													C|||	1	0.000199681	0.0	0.0	5008	,	,		10689	0.001		0.0	False		,,,				2504	0.0					ENST00000266712.6											0			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						c.(1120-1122)gcC>gcT	transmembrane and tetratricopeptide repeat containing 3	C		0,4406		0,0,2203	123.0	120.0	121.0		1122	-0.9	1.0	12		121	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	TMTC3	NM_181783.3		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		374/915	88566445	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	160418				integral to membrane	binding	g.chr12:88566445C>T			CCDS9032.1	CCDS9032.1	12q21.32	2014-09-04			2014-09-04			ENSG00000139324	ENSG00000139324	ENSG00000139324	ENSG00000139324		"""Tetratricopeptide (TTC) repeat domain containing"""	"""Tetratricopeptide (TTC) repeat domain containing"""	26899	26899	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_181783	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	uc001tau.3	Q6ZXV5	Q6ZXV5	OTTHUMG00000169887	OTTHUMG00000169887	ENST00000266712.6:c.1122C>T	12.37:g.88566445C>T				p.A374A	NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN			8	1342	+			374		Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Silent	SNP	ENST00000266712.6	37	c.1122C>T	CCDS9032.1																																																																																									0.353	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1		48.214545	-12	-12	127	127	NM_181783		18	52.660036	52.660036	56	0.243243	0	0	0	1	0	18	56	0.243243
MUM1	84939	broad.mit.edu	37	19	1360196	1360196	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:1360196C>T	ENST00000415183.3	+	4	305	c.279C>T	c.(277-279)cgC>cgT	p.R93R	MUM1_ENST00000591806.1_Silent_p.R93R|MUM1_ENST00000311401.5_Silent_p.R24R|MUM1_ENST00000344663.3_Silent_p.R93R			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	92					chromatin organization (GO:0006325)|DNA repair (GO:0006281)	nucleus (GO:0005634)	nucleosome binding (GO:0031491)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTCGCTTCGCGTGGCTCTGG	0.587											OREG0025088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000311401.5											0			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(70-72)cgC>cgT	melanoma associated antigen (mutated) 1						75.0	73.0	74.0					19																	1360196		2203	4300	6503	SO:0001819	synonymous_variant	84939			chromatin organization|DNA repair	nucleus	nucleosome binding|protein binding	g.chr19:1360196C>T	AK075241	AK075241	CCDS12062.1	CCDS12062.1	19p13.3	2008-02-05			2008-02-05				ENSG00000160953		ENSG00000160953				29641	29641	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										11042152, 7644523	11042152, 7644523	Standard	Standard	NM_032853	NM_032853		Approved	MUM-1	uc002lrz.2	uc002lrz.2	Q2TAK8	Q2TAK8			ENST00000415183.3:c.279C>T	19.37:g.1360196C>T		595	MUM1_ENST00000415183.3_Silent_p.R93R|MUM1_ENST00000591806.1_Silent_p.R93R|MUM1_ENST00000344663.3_Silent_p.R93R	p.R24R			Q2TAK8	MUM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	458	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	92		A1L489|B5ME02|B7ZLY8|J3KQD6|Q13109|Q5XKB9|Q8N2I4|Q96A67	Silent	SNP	ENST00000415183.3	37	c.72C>T																																																																																										0.587	MUM1-016	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000449510.1		12.897864	7	7	64	64	NM_032853		7	17.32376	17.323760	35	0.166667	0	0	0	1	0	7	35	0.166667
ASB10	136371	broad.mit.edu	37	7	150878399	150878399	+	Missense_Mutation	SNP	C	C	T	rs104886476	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:150878399C>T	ENST00000420175.2	-	3	755	c.731G>A	c.(730-732)cGc>cAc	p.R244H	ASB10_ENST00000377867.3_Missense_Mutation_p.R229H|ASB10_ENST00000422024.1_Missense_Mutation_p.R289H|ASB10_ENST00000434669.1_Missense_Mutation_p.R289H|ASB10_ENST00000275838.1_Missense_Mutation_p.R244H			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	244					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTCGGCATTGCGGGCATCAGG	0.657													C|||	4	0.000798722	0.0	0.0	5008	,	,		15814	0.004		0.0	False		,,,				2504	0.0					ENST00000422024.1											0			NS(1)|endometrium(2)|lung(7)|skin(2)	12						c.(865-867)cGc>cAc	ankyrin repeat and SOCS box containing 10						35.0	35.0	35.0					7																	150878399		2203	4300	6503	SO:0001583	missense	136371			intracellular signal transduction			g.chr7:150878399C>T	AK055536	AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926	ENSG00000146926	ENSG00000146926		"""Ankyrin repeat domain containing"""	"""Ankyrin repeat domain containing"""	17185	17185	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615054	615054	"""ankyrin repeat and SOCS box-containing 10"", ""glaucoma 1, open angle, F (adult-onset)"""	GLC1F	"""ankyrin repeat and SOCS box-containing 10"", ""glaucoma 1, open angle, F (adult-onset)"""	GLC1F		22156576	22156576	Standard	Standard	NM_080871	NM_080871		Approved		uc003wjm.1	uc003wjm.1	Q8WXI3	Q8WXI3	OTTHUMG00000157013	OTTHUMG00000157013	ENST00000420175.2:c.731G>A	7.37:g.150878399C>T	ENSP00000391137:p.Arg244His		ASB10_ENST00000377867.3_Missense_Mutation_p.R229H|ASB10_ENST00000275838.1_Missense_Mutation_p.R244H|ASB10_ENST00000420175.2_Missense_Mutation_p.R244H|ASB10_ENST00000434669.1_Missense_Mutation_p.R289H	p.R289H	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	991	-			244		A0AVH0|Q6ZUL6	Missense_Mutation	SNP	ENST00000420175.2	37	c.866G>A	CCDS47750.2	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	15.25	2.779284	0.49891	.	.	ENSG00000146926	ENST00000275838;ENST00000377867;ENST00000422024;ENST00000434669;ENST00000420175	T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31	5.24	3.4	0.38934	5.24	3.4	0.38934	Ankyrin repeat-containing domain (3);	0.191712	0.46145	D	0.000311	T	0.72179	0.3428	L	0.58583	1.82	0.28234	N	0.925985	D;D;D	0.71674	0.989;0.995;0.998	P;P;P	0.61201	0.817;0.885;0.862	T	0.64162	-0.6472	10	0.46703	T	0.11	-7.3683	8.1899	0.31361	0.0:0.696:0.0:0.304	.	229;244;289	Q8WXI3-3;Q8WXI3;D5MNW9	.;ASB10_HUMAN;.	H	244;229;289;289;244	ENSP00000275838:R244H;ENSP00000367098:R229H;ENSP00000401369:R289H;ENSP00000398247:R289H;ENSP00000391137:R244H	ENSP00000275838:R244H	R	-	2	0	0	ASB10	150509332	150509332	0.001000	0.12720	0.489000	0.27452	0.464000	0.32679	0.288000	0.18939	1.339000	0.45563	0.655000	0.94253	CGC		0.657	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347096.3		7.083566	3	3	32	32	NM_080871		4	10.291033	10.291033	23	0.148148	0	0	0	1	0	4	23	0.148148
SPAG5	10615	broad.mit.edu	37	17	26912882	26912882	+	Splice_Site	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:26912882C>T	ENST00000321765.5	-	7	2072	c.1740G>A	c.(1738-1740)gcG>gcA	p.A580A		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	580	Interaction with KNSTRN.				chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					GTCACCTTACCGCATCCTTGC	0.498																																						ENST00000321765.5											0			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1738-1740)gcG>gcA	sperm associated antigen 5						218.0	191.0	200.0					17																	26912882		2203	4300	6503	SO:0001630	splice_region_variant	10615			cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding	g.chr17:26912882C>T	AF063308	AF063308	CCDS32594.1	CCDS32594.1	17q11.2	2008-07-18			2008-07-18			ENSG00000076382	ENSG00000076382	ENSG00000076382	ENSG00000076382				13452	13452	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126"""	"""mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126"""	615562	615562						11549262	11549262	Standard	Standard	NM_006461	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	uc002hbq.3	Q96R06	Q96R06	OTTHUMG00000166586	OTTHUMG00000166586	ENST00000321765.5:c.1740+1G>A	17.37:g.26912882C>T				p.A580A	NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN			7	2072	-	Lung NSC(42;0.00431)		580		O95213|Q9BWE8|Q9NT17|Q9UFE6	Splice_Site	SNP	ENST00000321765.5	37	c.1740G>A	CCDS32594.1																																																																																									0.498	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2		51.090374	-11	-11	150	150	NM_006461	Silent	22	60.501473	60.501473	89	0.198198	0	0	0	1	0	22	89	0.198198
ITGA5	3678	broad.mit.edu	37	12	54799459	54799459	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:54799459G>A	ENST00000293379.4	-	11	1266	c.1005C>T	c.(1003-1005)gtC>gtT	p.V335V	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	335					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CATCCCCATTGACGTCTGTGG	0.547																																						ENST00000293379.4											0			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						c.(1003-1005)gtC>gtT	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)						87.0	74.0	78.0					12																	54799459		2203	4300	6503	SO:0001819	synonymous_variant	3678			angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr12:54799459G>A			CCDS8880.1	CCDS8880.1	12q11-q13	2010-03-23			2010-03-23				ENSG00000161638		ENSG00000161638		"""CD molecules"", ""Integrins"""	"""CD molecules"", ""Integrins"""	6141	6141	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			135620	135620		FNRA		FNRA		2454952	2454952	Standard	Standard	NM_002205	NM_002205		Approved	CD49e	uc001sga.3	uc001sga.3	P08648	P08648	OTTHUMG00000169841	OTTHUMG00000169841	ENST00000293379.4:c.1005C>T	12.37:g.54799459G>A			RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	p.V335V	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN			11	1266	-			335		Q96HA5	Silent	SNP	ENST00000293379.4	37	c.1005C>T	CCDS8880.1																																																																																									0.547	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1		119.953345	4	4	80	80			38	121.183376	121.183376	20	0.655172	0	0	0	1	0	38	20	0.655172
TNXB	7148	broad.mit.edu	37	6	32017060	32017060	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:32017060G>A	ENST00000375244.3	-	28	9945	c.9744C>T	c.(9742-9744)acC>acT	p.T3248T	TNXB_ENST00000375247.2_Silent_p.T3246T			P22105	TENX_HUMAN	tenascin XB	3293	Fibronectin type-III 24. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGATGCCCACGGTGGACACTG	0.637																																						ENST00000375244.3											0			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(9742-9744)acC>acT	tenascin XB						29.0	31.0	30.0					6																	32017060		1295	2542	3837	SO:0001819	synonymous_variant	7148			actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32017060G>A	X71923	X71923	CCDS4736.1	CCDS4736.1	6p21.3	2013-02-11			2013-02-11			ENSG00000168477	ENSG00000168477	ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	11976	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600985	600985		TNXB1, TNXB2		TNXB1, TNXB2		8530023	8530023	Standard	Standard	NM_019105	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	uc021yvf.2	P22105	P22105	OTTHUMG00000031088	OTTHUMG00000031088	ENST00000375244.3:c.9744C>T	6.37:g.32017060G>A			TNXB_ENST00000375247.2_Silent_p.T3246T	p.T3248T			P22105	TENX_HUMAN			28	9945	-			3293	Fibronectin type-III 24.	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.9744C>T																																																																																										0.637	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2		9.791913	-15	-15	25	25	NM_019105		4	11.068474	11.068474	14	0.222222	0	0	0	1	0	4	14	0.222222
CDH7	1005	broad.mit.edu	37	18	63511118	63511118	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr18:63511118G>A	ENST00000397968.2	+	7	1478	c.1052G>A	c.(1051-1053)cGc>cAc	p.R351H	CDH7_ENST00000536984.2_Missense_Mutation_p.R351H|CDH7_ENST00000323011.3_Missense_Mutation_p.R351H	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	351	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GCCGACCCTCGCTTTCTGAGC	0.443																																						ENST00000536984.2											0			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80						c.(1051-1053)cGc>cAc	cadherin 7, type 2						139.0	123.0	128.0					18																	63511118		2203	4300	6503	SO:0001583	missense	1005			adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63511118G>A	AB035301	AB035301	CCDS11993.1	CCDS11993.1	18q22.1	2010-01-26			2010-01-26			ENSG00000081138	ENSG00000081138	ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	"""Cadherins / Major cadherins"""	1766	1766	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605806	605806						9615235	9615235	Standard	Standard	NM_033646	NM_033646		Approved		uc002ljz.3	uc002ljz.3	Q9ULB5	Q9ULB5	OTTHUMG00000132800	OTTHUMG00000132800	ENST00000397968.2:c.1052G>A	18.37:g.63511118G>A	ENSP00000381058:p.Arg351His		CDH7_ENST00000323011.3_Missense_Mutation_p.R351H|CDH7_ENST00000397968.2_Missense_Mutation_p.R351H	p.R351H			Q9ULB5	CADH7_HUMAN			7	1746	+		Esophageal squamous(42;0.129)	351	Cadherin 3.	Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.1052G>A	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	G	9.989	1.230364	0.22542	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.38401	1.14;1.14;1.14	5.04	4.17	0.49024	5.04	4.17	0.49024	Cadherin (4);Cadherin-like (1);	0.299368	0.37623	N	0.002018	T	0.55337	0.1914	M	0.78223	2.4	0.30939	N	0.726055	P;D	0.71674	0.495;0.998	B;P	0.59056	0.119;0.851	T	0.64058	-0.6496	10	0.52906	T	0.07	.	13.7615	0.62968	0.0742:0.0:0.9258:0.0	.	351;351	F5H5X9;Q9ULB5	.;CADH7_HUMAN	H	351	ENSP00000319166:R351H;ENSP00000443030:R351H;ENSP00000381058:R351H	ENSP00000319166:R351H	R	+	2	0	0	CDH7	61662098	61662098	0.998000	0.40836	0.126000	0.21872	0.089000	0.18198	3.288000	0.51739	1.483000	0.48342	0.655000	0.94253	CGC		0.443	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2		59.521757	4	4	79	79	NM_033646		22	62.692457	62.692457	55	0.285714	0	0	0	1	0	22	55	0.285714
PGAM4	441531	broad.mit.edu	37	X	77224669	77224669	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:77224669G>A	ENST00000458128.1	-	1	466	c.467C>T	c.(466-468)cCg>cTg	p.P156L	ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000341514.6_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	156					glycolytic process (GO:0006096)|positive regulation of sperm motility (GO:1902093)	extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|phosphoglycerate mutase activity (GO:0004619)			endometrium(2)|lung(4)	6						AGTATCCTTCGGACTCTCATA	0.517																																						ENST00000458128.1											0			endometrium(2)|lung(4)	6						c.(466-468)cCg>cTg	phosphoglycerate mutase family member 4						80.0	76.0	78.0					X																	77224669		2203	4295	6498	SO:0001583	missense	441531			glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity	g.chrX:77224669G>A	AF465731	AF465731	CCDS35338.1	CCDS35338.1	Xq21.1	2011-02-09	2006-02-09		2011-02-09	2006-02-09		ENSG00000226784	ENSG00000226784	ENSG00000226784	ENSG00000226784				21731	21731	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300567	300567	"""phosphoglycerate mutase family 4"""		"""phosphoglycerate mutase family 4"""			11961099, 9370262	11961099, 9370262	Standard	Standard	NM_001029891	NM_001029891		Approved	dJ1000K24.1, PGAM3, PGAM-B, PGAM1	uc004ecy.1	uc004ecy.1	Q8N0Y7	Q8N0Y7	OTTHUMG00000057865	OTTHUMG00000057865	ENST00000458128.1:c.467C>T	X.37:g.77224669G>A	ENSP00000412189:p.Pro156Leu		ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000343533.5_Intron	p.P156L	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN			1	466	-			156		Q5JPN2|Q8NI24|Q8NI25|Q8NI26	Missense_Mutation	SNP	ENST00000458128.1	37	c.467C>T	CCDS35338.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.298298	0.00243	.	.	ENSG00000226784	ENST00000458128	T	0.77098	-1.07	0.119	-0.238	0.13055	0.119	-0.238	0.13055	Histidine phosphatase superfamily, clade-1 (2);	0.086607	0.47852	N	0.000206	T	0.24736	0.0600	N	0.00017	-2.83	0.23232	N	0.998077	B	0.02656	0.0	B	0.01281	0.0	T	0.47032	-0.9148	9	.	.	.	-23.5549	4.3246	0.11034	0.7113:0.0:0.2887:0.0	.	156	Q8N0Y7	PGAM4_HUMAN	L	156	ENSP00000412189:P156L	.	P	-	2	0	0	PGAM4	77111325	77111325	1.000000	0.71417	0.114000	0.21550	0.114000	0.19823	4.188000	0.58351	-1.907000	0.01087	-1.858000	0.00562	CCG		0.517	PGAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128371.2		59.877943	-14	-14	165	165	NM_001029891		23	65.820323	65.820323	73	0.239583	0	0	0	1	0	23	73	0.239583
DNM1P46	196968	broad.mit.edu	37	15	100332288	100332288	+	RNA	SNP	C	C	T	rs113961788		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr15:100332288C>T	ENST00000341853.1	-	0	1903				RN7SL484P_ENST00000462651.2_RNA|AC090825.1_ENST00000408584.1_RNA	NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										GGAGACCCACCGGGCCATGCA	0.652																																						ENST00000341853.1											0																	74.0	75.0	75.0					15																	100332288		876	1991	2867			0						g.chr15:100332288C>T	AJ576275	AJ576275			15q26.3	2013-04-25			2013-04-25			ENSG00000182397	ENSG00000182397	ENSG00000182397	ENSG00000182397				35199	35199	pseudogene	pseudogene	pseudogene	pseudogene					"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51	"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51				Standard	Standard	NR_003260	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	uc021sxl.1	Q6ZS02	Q6ZS02	OTTHUMG00000149852	OTTHUMG00000149852		15.37:g.100332288C>T					NR_003260.1						0	1903	-					Q3ZCN3	RNA	SNP	ENST00000341853.1	37																																																																																											0.652	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1		53.201817	-5	-5	46	46	NR_003260		16	53.208874	53.208874	15	0.516129	0	0	0	1	0	16	15	0.516129
ZSCAN1	284312	broad.mit.edu	37	19	58549469	58549469	+	Missense_Mutation	SNP	G	G	A	rs148253808		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:58549469G>A	ENST00000282326.1	+	3	512	c.265G>A	c.(265-267)Gcg>Acg	p.A89T	ZSCAN1_ENST00000601162.1_Missense_Mutation_p.A89T|ZSCAN1_ENST00000391700.1_Missense_Mutation_p.A89T	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	89	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)	p.A89T(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GTTCCTGGGCGCGCTGCCCAG	0.692													G|||	1	0.000199681	0.0	0.0	5008	,	,		10629	0.0		0.0	False		,,,				2504	0.001					ENST00000282326.1											1	Substitution - Missense(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(265-267)Gcg>Acg	zinc finger and SCAN domain containing 1	G	THR/ALA	1,4393		0,1,2196	17.0	17.0	17.0		265	-1.9	0.0	19	dbSNP_134	17	0,8588		0,0,4294	no	missense	ZSCAN1	NM_182572.3	58	0,1,6490	AA,AG,GG		0.0,0.0228,0.0077	benign	89/409	58549469	1,12981	2197	4294	6491	SO:0001583	missense	284312			viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58549469G>A	AK091098	AK091098	CCDS12969.1	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467	ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	"""-"", ""Zinc fingers, C2H2-type"""	23712	23712	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""zinc finger with SCAN domain 1"""		"""zinc finger with SCAN domain 1"""			12477932	12477932	Standard	Standard	NM_182572	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	uc002qrc.1	Q8NBB4	Q8NBB4	OTTHUMG00000183381	OTTHUMG00000183381	ENST00000282326.1:c.265G>A	19.37:g.58549469G>A	ENSP00000282326:p.Ala89Thr		ZSCAN1_ENST00000391700.1_Missense_Mutation_p.A89T|ZSCAN1_ENST00000601162.1_Missense_Mutation_p.A89T	p.A89T	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	3	512	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	89	SCAN box.	Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	ENST00000282326.1	37	c.265G>A	CCDS12969.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378188	0.61735	2.28E-4	0.0	ENSG00000152467	ENST00000391700;ENST00000282326	T;T	0.04360	3.64;3.64	2.08	-1.9	0.07665	2.08	-1.9	0.07665	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.05502	0.0145	L	0.38733	1.17	0.09310	N	1	P;P	0.52170	0.95;0.951	P;B	0.51999	0.687;0.404	T	0.32375	-0.9909	9	0.27082	T	0.32	.	1.9367	0.03338	0.3721:0.0:0.362:0.2659	.	89;89	Q8NBB4;Q8NBB4-2	ZSCA1_HUMAN;.	T	89	ENSP00000375581:A89T;ENSP00000282326:A89T	ENSP00000282326:A89T	A	+	1	0	0	ZSCAN1	63241281	63241281	0.000000	0.05858	0.034000	0.17996	0.964000	0.63967	0.070000	0.14573	-0.194000	0.10399	0.393000	0.25936	GCG		0.692	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1		24.897877	-6	-6	23	23	NM_182572		8	24.946256	24.946256	10	0.444444	0	0	0	1	0	8	10	0.444444
CYB561	1534	broad.mit.edu	37	17	61514900	61514900	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:61514900G>A	ENST00000392976.1	-	2	308	c.9C>T	c.(7-9)ggC>ggT	p.G3G	CYB561_ENST00000542042.1_Silent_p.G70G|CYB561_ENST00000581573.1_Silent_p.G3G|CYB561_ENST00000584031.1_Silent_p.G3G|CYB561_ENST00000582297.1_Silent_p.G3G|CYB561_ENST00000360793.3_Silent_p.G3G|CYB561_ENST00000582997.1_Silent_p.G10G|CYB561_ENST00000448884.2_Silent_p.G3G|CYB561_ENST00000581163.1_5'Flank|CYB561_ENST00000582034.1_Intron|CYB561_ENST00000392975.2_Silent_p.G3G	NM_001017916.1	NP_001017916.1	P49447	CY561_HUMAN	cytochrome b561	3					electron transport chain (GO:0022900)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)|transmembrane electron transfer carrier (GO:0022865)			lung(2)|ovary(1)|prostate(1)	4				READ - Rectum adenocarcinoma(1115;0.0689)		CCGCGGCCCCGCCCTCCATGC	0.687																																						ENST00000584031.1											0			lung(2)|ovary(1)|prostate(1)	4						c.(7-9)ggC>ggT	cytochrome b561						28.0	29.0	29.0					17																	61514900		2202	4298	6500	SO:0001819	synonymous_variant	1534			electron transport chain|transport	integral to plasma membrane	cytochrome-b5 reductase activity|ferric-chelate reductase activity|metal ion binding	g.chr17:61514900G>A			CCDS11636.1	CCDS11636.1	17q23.3	2013-03-14	2013-03-14		2013-03-14	2013-03-14		ENSG00000008283	ENSG00000008283	ENSG00000008283	ENSG00000008283		"""Cytochrome b genes"""	"""Cytochrome b genes"""	2571	2571	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""ferric-chelate reductase 2"", ""cytochrome b561 family, member A1"""	"""ferric-chelate reductase 2"", ""cytochrome b561 family, member A1"""	600019	600019						7959749, 23249217	7959749, 23249217	Standard	Standard	XM_005257091	XM_005257091		Approved	FRRS2, CYB561A1	uc002jas.3	uc002jas.3	P49447	P49447			ENST00000392976.1:c.9C>T	17.37:g.61514900G>A			CYB561_ENST00000582034.1_Intron|CYB561_ENST00000360793.3_Silent_p.G3G|CYB561_ENST00000448884.2_Silent_p.G3G|CYB561_ENST00000582997.1_Silent_p.G10G|CYB561_ENST00000542042.1_Silent_p.G70G|CYB561_ENST00000392976.1_Silent_p.G3G|CYB561_ENST00000582297.1_Silent_p.G3G|CYB561_ENST00000581573.1_Silent_p.G3G|CYB561_ENST00000392975.2_Silent_p.G3G	p.G3G			P49447	CY561_HUMAN		READ - Rectum adenocarcinoma(1115;0.0689)	2	308	-			3		B2RE96|B7Z775|D3DU11|Q5BJG9|Q9BU05|Q9BWR9	Silent	SNP	ENST00000392976.1	37	c.9C>T	CCDS11636.1																																																																																									0.687	CYB561-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444843.1		26.718150	4	4	18	18	NM_001915		9	26.753753	26.753753	11	0.450000	0	0	0	1	0	9	11	0.45
IYD	389434	broad.mit.edu	37	6	150719260	150719260	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:150719260C>T	ENST00000344419.3	+	5	897	c.757C>T	c.(757-759)Cgc>Tgc	p.R253C	IYD_ENST00000229447.5_Missense_Mutation_p.P290L	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	253					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	iodide peroxidase activity (GO:0004447)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		GCTCCTGGGCCGCCCCGCACA	0.557																																						ENST00000344419.3											0			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(757-759)Cgc>Tgc	iodotyrosine deiodinase						76.0	74.0	75.0					6																	150719260		2203	4300	6503	SO:0001583	missense	389434			cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane		g.chr6:150719260C>T	AK129950	AK129950	CCDS5227.1, CCDS55066.1, CCDS55067.1	CCDS5227.1, CCDS55066.1, CCDS55067.1	6q25.1	2006-08-24	2006-08-24	2006-08-24	2006-08-24	2006-08-24	2006-08-24	ENSG00000009765	ENSG00000009765	ENSG00000009765	ENSG00000009765				21071	21071	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612025	612025	"""chromosome 6 open reading frame 71"""	C6orf71	"""chromosome 6 open reading frame 71"""	C6orf71		16316988, 15289438	16316988, 15289438	Standard	Standard	NM_001164694	NM_001164694		Approved	dJ422F24.1, DEHAL1	uc003qnx.2	uc003qnx.2	Q6PHW0	Q6PHW0	OTTHUMG00000016347	OTTHUMG00000016347	ENST00000344419.3:c.757C>T	6.37:g.150719260C>T	ENSP00000343763:p.Arg253Cys		IYD_ENST00000229447.5_Missense_Mutation_p.P290L	p.R253C	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)	5	897	+		Ovarian(120;0.028)	253		C9JFW2|Q2VPW0|Q2VPW1|Q5F1L5|Q5F1L6|Q5THM4|Q6ZP69|Q7Z7D7|Q7Z7D8	Missense_Mutation	SNP	ENST00000344419.3	37	c.757C>T	CCDS5227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.5|21.5	4.164931|4.164931	0.78339|0.78339	.|.	.|.	ENSG00000009765|ENSG00000009765	ENST00000229447|ENST00000344419	D|T	0.89343|0.76186	-2.5|-1.0	6.06|6.06	6.06|6.06	0.98353|0.98353	6.06|6.06	6.06|6.06	0.98353|0.98353	.|Nitroreductase-like (3);	0.055170|.	0.64402|.	D|.	0.000001|.	D|D	0.88991|0.88991	0.6588|0.6588	M|M	0.91196|0.91196	3.185|3.185	0.80722|0.80722	D|D	1|1	P|D	0.36483|0.89917	0.555|1.0	B|D	0.24394|0.91635	0.053|0.999	D|D	0.89371|0.89371	0.3675|0.3675	10|9	0.87932|0.62326	D|D	0|0.03	-30.6384|-30.6384	20.6244|20.6244	0.99512|0.99512	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	290|253	C9JFW2|Q6PHW0	.|IYD1_HUMAN	L|C	290|253	ENSP00000229447:P290L|ENSP00000343763:R253C	ENSP00000229447:P290L|ENSP00000343763:R253C	P|R	+|+	2|1	0|0	0|0	IYD|IYD	150760953|150760953	150760953|150760953	1.000000|1.000000	0.71417|0.71417	0.778000|0.778000	0.31720|0.31720	0.515000|0.515000	0.34225|0.34225	4.631000|4.631000	0.61304|0.61304	2.879000|2.879000	0.98667|0.98667	0.650000|0.650000	0.86243|0.86243	CCG|CGC		0.557	IYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043754.3		2.297431	10	10	115	115	NM_203395		6	14.47374	14.473740	64	0.085714	0	0	0	1	0	6	64	0.085714
CHIT1	1118	broad.mit.edu	37	1	203194835	203194835	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:203194835G>A	ENST00000367229.1	-	3	253	c.219C>T	c.(217-219)gaC>gaT	p.D73D	CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000255427.3_Silent_p.D73D|CHIT1_ENST00000535569.1_Silent_p.D83D	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	73					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						AGAGAGTCTCGTCATTCCACT	0.577																																						ENST00000367229.1											0			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						c.(217-219)gaC>gaT	chitinase 1 (chitotriosidase)						136.0	127.0	130.0					1																	203194835		2203	4300	6503	SO:0001819	synonymous_variant	1118			chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity	g.chr1:203194835G>A	U29615	U29615	CCDS1436.1, CCDS58057.1	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			2013-06-06			ENSG00000133063	ENSG00000133063	ENSG00000133063	ENSG00000133063				1936	1936	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600031	600031						9748235, 9492324	9748235, 9492324	Standard	Standard	NM_003465	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	uc001gzn.2	Q13231	Q13231	OTTHUMG00000042126	OTTHUMG00000042126	ENST00000367229.1:c.219C>T	1.37:g.203194835G>A			CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000255427.3_Silent_p.D73D|CHIT1_ENST00000535569.1_Silent_p.D83D	p.D73D	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN			3	253	-			73		B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Silent	SNP	ENST00000367229.1	37	c.219C>T	CCDS1436.1																																																																																									0.577	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2		15.602403	3	3	70	70	NM_003465		7	19.157159	19.157159	31	0.184211	0	0	0	1	0	7	31	0.184211
NGRN	51335	broad.mit.edu	37	15	90814997	90814997	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr15:90814997G>A	ENST00000379095.3	+	3	861	c.853G>A	c.(853-855)Ggg>Agg	p.G285R	NGRN_ENST00000331497.3_3'UTR|RP11-697E2.6_ENST00000561573.1_3'UTR	NM_001033088.1	NP_001028260.2	Q9NPE2	NGRN_HUMAN	neugrin, neurite outgrowth associated	285					neuron differentiation (GO:0030182)	extracellular region (GO:0005576)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			TGACAGCAACGGGAACTTCCT	0.498																																						ENST00000379095.3											0			kidney(2)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(853-855)Ggg>Agg	neugrin, neurite outgrowth associated						48.0	47.0	47.0					15																	90814997		2199	4298	6497	SO:0001583	missense	51335			neuron differentiation	extracellular region|nucleus		g.chr15:90814997G>A	AB029315	AB029315	CCDS32329.1	CCDS32329.1	15q26.1	2008-02-05			2008-02-05			ENSG00000182768	ENSG00000182768	ENSG00000182768	ENSG00000182768				18077	18077	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										11118320	11118320	Standard	Standard	NR_028052	NR_028052		Approved	DSC92	uc002bpf.1	uc002bpf.1	Q9NPE2	Q9NPE2	OTTHUMG00000149807	OTTHUMG00000149807	ENST00000379095.3:c.853G>A	15.37:g.90814997G>A	ENSP00000368389:p.Gly285Arg		RP11-697E2.6_ENST00000561573.1_3'UTR|NGRN_ENST00000331497.3_3'UTR	p.G285R	NM_001033088.1	NP_001028260.2	Q9NPE2	NGRN_HUMAN	KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)		3	861	+	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		285		B2R6M8|Q4V9L7|Q9HBL4	Missense_Mutation	SNP	ENST00000379095.3	37	c.853G>A	CCDS32329.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.858793	0.51376	.	.	ENSG00000182768	ENST00000379095	T	0.61980	0.06	5.13	5.13	0.70059	5.13	5.13	0.70059	.	0.000000	0.64402	U	0.000007	T	0.60470	0.2271	L	0.58428	1.81	0.80722	D	1	P	0.43024	0.798	B	0.39068	0.289	T	0.68108	-0.5496	10	0.87932	D	0	.	16.4285	0.83832	0.0:0.0:1.0:0.0	.	285	Q9NPE2	NGRN_HUMAN	R	285	ENSP00000368389:G285R	ENSP00000368389:G285R	G	+	1	0	0	NGRN	88616001	88616001	1.000000	0.71417	1.000000	0.80357	0.303000	0.27691	6.893000	0.75649	2.540000	0.85666	0.460000	0.39030	GGG		0.498	NGRN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313418.1		0.962719	3	3	80	80			4	9.693841	9.693841	45	0.081633	0	0	0	1	0	4	45	0.081633
IGSF9B	22997	broad.mit.edu	37	11	133807352	133807352	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:133807352G>A	ENST00000321016.8	-	5	828	c.598C>T	c.(598-600)Cgg>Tgg	p.R200W	IGSF9B_ENST00000533871.2_Missense_Mutation_p.R200W			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	200	Ig-like 2.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTGTCCTCCCGACTGACCGAT	0.607																																						ENST00000321016.8											0			breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(598-600)Cgg>Tgg	immunoglobulin superfamily, member 9B						68.0	77.0	74.0					11																	133807352		2159	4240	6399	SO:0001583	missense	22997				integral to membrane|plasma membrane		g.chr11:133807352G>A	AK097578	AK097578	CCDS61010.1	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20	2013-02-11	2005-10-12	2005-11-20						"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	32326	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613773	613773								Standard	Standard	NM_001277285	NM_001277285		Approved	KIAA1030	uc031qfh.1	uc031qfh.1	Q9UPX0	Q9UPX0			ENST00000321016.8:c.598C>T	11.37:g.133807352G>A	ENSP00000317980:p.Arg200Trp		IGSF9B_ENST00000533871.2_Missense_Mutation_p.R200W	p.R200W			Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	5	828	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	200	Ig-like 2.	G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.598C>T		.	.	.	.	.	.	.	.	.	.	G	24.6	4.543952	0.86022	.	.	ENSG00000080854	ENST00000321016;ENST00000533871;ENST00000527648;ENST00000533160	T;T;T;D	0.96300	-0.73;-1.17;-0.73;-3.97	5.54	4.61	0.57282	5.54	4.61	0.57282	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.97692	0.9243	M	0.72624	2.21	0.47374	D	0.9994	D	0.89917	1.0	D	0.81914	0.995	D	0.98333	1.0534	9	0.87932	D	0	.	15.4874	0.75578	0.0:0.0:0.8532:0.1468	.	200	Q9UPX0	TUTLB_HUMAN	W	200;42;200;190	ENSP00000317980:R200W;ENSP00000436552:R42W;ENSP00000436576:R200W;ENSP00000434026:R190W	ENSP00000317980:R200W	R	-	1	2	2	IGSF9B	133312562	133312562	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	5.899000	0.69846	1.290000	0.44636	0.561000	0.74099	CGG		0.607	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			62.662515	7	7	74	74	XM_290502		21	62.752623	62.752623	17	0.552632	0	0	0	1	0	21	17	0.552632
L3MBTL2	83746	broad.mit.edu	37	22	41621887	41621887	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr22:41621887C>T	ENST00000216237.5	+	12	1604	c.1446C>T	c.(1444-1446)caC>caT	p.H482H		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	482					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCTCTTCCCACGCCATCTTCC	0.572																																						ENST00000216237.5											0			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1444-1446)caC>caT	l(3)mbt-like 2 (Drosophila)						115.0	81.0	93.0					22																	41621887		2203	4300	6503	SO:0001819	synonymous_variant	83746			chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding	g.chr22:41621887C>T	AJ305226	AJ305226	CCDS14011.1	CCDS14011.1	22q13.31-q13.33	2008-06-11			2008-06-11			ENSG00000100395	ENSG00000100395	ENSG00000100395	ENSG00000100395				18594	18594	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611865	611865						11682070	11682070	Standard	Standard	NM_031488	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	uc003azo.3	Q969R5	Q969R5	OTTHUMG00000150942	OTTHUMG00000150942	ENST00000216237.5:c.1446C>T	22.37:g.41621887C>T				p.H482H	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN			12	1604	+			482		Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Silent	SNP	ENST00000216237.5	37	c.1446C>T	CCDS14011.1																																																																																									0.572	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1		36.654436	5	5	54	54	NM_031488		13	37.269803	37.269803	23	0.361111	0	0	0	1	0	13	23	0.361111
TMTC1	83857	broad.mit.edu	37	12	29671410	29671410	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:29671410G>A	ENST00000539277.1	-	13	2077	c.2019C>T	c.(2017-2019)taC>taT	p.Y673Y	TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000551659.1_Silent_p.Y735Y|RP11-310I24.1_ENST00000549070.1_RNA|TMTC1_ENST00000552618.1_Silent_p.Y697Y|TMTC1_ENST00000256062.5_Silent_p.Y565Y	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	673						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TTTACCGCTTGTACCATTCTT	0.463																																						ENST00000256062.5											0			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(1693-1695)taC>taT	transmembrane and tetratricopeptide repeat containing 1						184.0	166.0	172.0					12																	29671410		2203	4300	6503	SO:0001819	synonymous_variant	83857				integral to membrane	binding	g.chr12:29671410G>A			CCDS8718.1, CCDS53772.1	CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06		2014-06-09	2006-01-06			ENSG00000133687		ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	"""Tetratricopeptide (TTC) repeat domain containing"""	24099	24099	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615855	615855						24764305	24764305	Standard	Standard	NM_001193451	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	uc021qwi.1	Q8IUR5	Q8IUR5	OTTHUMG00000169324	OTTHUMG00000169324	ENST00000539277.1:c.2019C>T	12.37:g.29671410G>A			TMTC1_ENST00000552618.1_Silent_p.Y697Y|TMTC1_ENST00000539277.1_Silent_p.Y673Y|TMTC1_ENST00000551659.1_Silent_p.Y735Y|TMTC1_ENST00000319685.8_5'UTR	p.Y565Y	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN			13	2168	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		673		D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Silent	SNP	ENST00000539277.1	37	c.1695C>T	CCDS53772.1																																																																																									0.463	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1		157.318746	-34	-34	121	121	NM_031920		51	157.320905	157.320905	52	0.495146	0	0	0	1	0	51	52	0.495146
PRKDC	5591	ucsc.edu	37	8	48849060	48849060	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr8:48849060G>A	ENST00000314191.2	-	12	1187	c.1131C>T	c.(1129-1131)aaC>aaT	p.N377N	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.N377N	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	377					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CATCTTTTGCGTTTATAACCT	0.403								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0																	114.0	114.0	114.0					8																	48849060		1994	4166	6160	SO:0001819	synonymous_variant	5591									CCDS75734.1, CCDS75735.1	CCDS75734.1, CCDS75735.1	8q11	2014-09-17			2014-09-17				ENSG00000253729		ENSG00000253729	2.7.11.1			9413	9413	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600899	600899		HYRC, HYRC1		HYRC, HYRC1		7638222	7638222	Standard	Standard	NM_001081640	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	uc003xqi.3	P78527	P78527			ENST00000314191.2:c.1131C>T	8.37:g.48849060G>A																		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	ENST00000314191.2	37																																																																																											0.403	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				4	4	53	53	NM_001081640		14			24							14	24	
CNTN1	1272	broad.mit.edu	37	12	41421732	41421732	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:41421732C>T	ENST00000551295.2	+	22	2901	c.2784C>T	c.(2782-2784)gtC>gtT	p.V928V	CNTN1_ENST00000347616.1_Silent_p.V928V|CNTN1_ENST00000348761.2_Silent_p.V917V	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	928	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GGGATCATGTCGTTGCACTAT	0.388																																						ENST00000551295.2											0			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90						c.(2782-2784)gtC>gtT	contactin 1						153.0	133.0	140.0					12																	41421732		2203	4300	6503	SO:0001819	synonymous_variant	1272			axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41421732C>T	Z21488	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30			2014-01-30				ENSG00000018236		ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	2171	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	"""glycoprotein gP135"""	600016	600016						7959734, 8586965	7959734, 8586965	Standard	Standard	NM_001843	NM_001843		Approved	F3, GP135	uc031qgz.1	uc031qgz.1	Q12860	Q12860			ENST00000551295.2:c.2784C>T	12.37:g.41421732C>T			CNTN1_ENST00000347616.1_Silent_p.V928V|CNTN1_ENST00000348761.2_Silent_p.V917V	p.V928V	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN			22	2901	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	928	Fibronectin type-III 4.	A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Silent	SNP	ENST00000551295.2	37	c.2784C>T	CCDS8737.1																																																																																									0.388	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2		16.003220	7	7	66	66	NM_001843		7	19.346772	19.346772	30	0.189189	0	0	0	1	0	7	30	0.189189
PDGFRA	5156	broad.mit.edu	37	4	55146591	55146591	+	Silent	SNP	C	C	T	rs149659832		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr4:55146591C>T	ENST00000257290.5	+	16	2596	c.2265C>T	c.(2263-2265)tcC>tcT	p.S755S	FIP1L1_ENST00000507166.1_Silent_p.S515S	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	755	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	CTAAATATTCCGACATCCAGA	0.398			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5		Dom	yes		4	4q11-q13	5156	"""platelet-derived growth factor, alpha-receptor"""		"""L, M, O"""	0			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(2263-2265)tcC>tcT	platelet-derived growth factor receptor, alpha polypeptide	C		2,4404	4.2+/-10.8	0,2,2201	85.0	82.0	83.0		2265	-5.8	0.1	4	dbSNP_134	83	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PDGFRA	NM_006206.4		0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231		755/1090	55146591	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	5156	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55146591C>T	D50001	D50001	CCDS3495.1	CCDS3495.1	4q12	2014-09-17			2014-09-17			ENSG00000134853	ENSG00000134853	ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	8803	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			173490	173490								Standard	Standard	NM_006206	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	uc003han.4	P16234	P16234	OTTHUMG00000128699	OTTHUMG00000128699	ENST00000257290.5:c.2265C>T	4.37:g.55146591C>T			FIP1L1_ENST00000507166.1_Silent_p.S515S	p.S755S	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		16	2596	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		755	Protein kinase.	B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Silent	SNP	ENST00000257290.5	37	c.2265C>T	CCDS3495.1																																																																																									0.398	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2		72.018350	-2	-2	63	63	NM_006206		23	72.219599	72.219599	30	0.433962	0	0	0	1	0	23	30	0.433962
NOS1AP	9722	broad.mit.edu	37	1	162336952	162336952	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:162336952G>A	ENST00000361897.5	+	10	1618	c.1216G>A	c.(1216-1218)Gcg>Acg	p.A406T	NOS1AP_ENST00000493151.1_Missense_Mutation_p.A111T|NOS1AP_ENST00000530878.1_Missense_Mutation_p.A401T|NOS1AP_ENST00000454693.1_3'UTR|RP11-565P22.6_ENST00000431696.1_Missense_Mutation_p.A92T	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	406					regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			GCCGCTGGGCGCGGGCTTGGC	0.662																																						ENST00000493151.1											0			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32						c.(331-333)Gcg>Acg	nitric oxide synthase 1 (neuronal) adaptor protein						64.0	74.0	70.0					1																	162336952		2203	4300	6503	SO:0001583	missense	9722			regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding	g.chr1:162336952G>A	AB007933		CCDS1237.1, CCDS44267.1, CCDS53421.1		1q23.3	2010-08-20						ENSG00000198929	ENSG00000198929						16859		protein-coding gene	gene with protein product			"""C-terminal PDZ domain ligand of neuronal nitric oxide synthase"""		605551							9455484, 9459447		Standard		NM_001126060			Approved	KIAA0464, CAPON	uc001gbv.2		O75052		OTTHUMG00000024049		ENST00000361897.5:c.1216G>A	1.37:g.162336952G>A	ENSP00000355133:p.Ala406Thr		NOS1AP_ENST00000530878.1_Missense_Mutation_p.A401T|NOS1AP_ENST00000454693.1_3'UTR|RP11-565P22.6_ENST00000431696.1_Missense_Mutation_p.A92T|NOS1AP_ENST00000361897.5_Missense_Mutation_p.A406T	p.A111T	NM_001126060.1	NP_001119532.2	O75052	CAPON_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0537)		2	2698	+	all_hematologic(112;0.203)		406	PID.	B7ZLF5|O43564|Q3T551|Q5VU95	Missense_Mutation	SNP	ENST00000361897.5	37	c.331G>A	CCDS1237.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.319171	0.41096	.	.	ENSG00000198929;ENSG00000198929;ENSG00000198929;ENSG00000198929;ENSG00000254706	ENST00000530878;ENST00000361897;ENST00000464284;ENST00000493151;ENST00000431696	T;T	0.77098	-1.07;-1.07	4.96	1.56	0.23342	4.96	1.56	0.23342	.	0.285831	0.38959	N	0.001520	T	0.31263	0.0791	N	0.14661	0.345	.	.	.	B;B;B	0.23249	0.007;0.082;0.05	B;B;B	0.14023	0.002;0.01;0.01	T	0.02852	-1.1102	9	0.19590	T	0.45	.	2.9688	0.05916	0.1037:0.2697:0.4768:0.1498	.	111;401;406	Q3T551;B7ZLF5;O75052	.;.;CAPON_HUMAN	T	401;406;62;111;92	ENSP00000431586:A401T;ENSP00000355133:A406T	ENSP00000355133:A406T	A	+	1	0	0	NOS1AP;RP11-565P22.6	160603576	160603576	0.425000	0.25498	0.999000	0.59377	0.997000	0.91878	1.432000	0.34936	0.553000	0.29044	0.655000	0.94253	GCG		0.662	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2		86.714231	-10	-10	102	102	NM_014697		30	87.374892	87.374892	45	0.400000	0	0	0	1	0	30	45	0.4
YAP1	10413	broad.mit.edu	37	11	102094425	102094425	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:102094425G>A	ENST00000282441.5	+	7	1493	c.1105G>A	c.(1105-1107)Ggg>Agg	p.G369R	YAP1_ENST00000345877.2_Missense_Mutation_p.G319R|YAP1_ENST00000531439.1_Missense_Mutation_p.G353R|YAP1_ENST00000526343.1_Missense_Mutation_p.G315R|YAP1_ENST00000537274.1_Missense_Mutation_p.G357R|YAP1_ENST00000524575.1_Missense_Mutation_p.G191R	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Yes-associated protein 1	369	Transactivation domain.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|contact inhibition (GO:0060242)|embryonic heart tube morphogenesis (GO:0003143)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|keratinocyte differentiation (GO:0030216)|lateral mesoderm development (GO:0048368)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|notochord development (GO:0030903)|paraxial mesoderm development (GO:0048339)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of keratinocyte proliferation (GO:0010837)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of stem cell proliferation (GO:0072091)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		GTCTTCTCCCGGGATGTCTCA	0.438																																					Colon(50;247 1103 7861 28956)	ENST00000282441.5											0			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(1105-1107)Ggg>Agg	Yes-associated protein 1						110.0	99.0	103.0					11																	102094425		2203	4299	6502	SO:0001583	missense	10413			cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr11:102094425G>A			CCDS8314.1, CCDS44716.1, CCDS8314.2, CCDS53699.1, CCDS53700.1, CCDS60944.1, CCDS73373.1, CCDS73374.1	CCDS8314.1, CCDS44716.1, CCDS8314.2, CCDS53699.1, CCDS53700.1, CCDS60944.1, CCDS73373.1, CCDS73374.1	11q13	2010-03-19	2010-03-19		2010-03-19	2010-03-19		ENSG00000137693	ENSG00000137693	ENSG00000137693	ENSG00000137693				16262	16262	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606608	606608	"""Yes-associated protein 1, 65kDa"""		"""Yes-associated protein 1, 65kDa"""			7782338	7782338	Standard	Standard	NM_001130145	NM_001130145		Approved	YAP65	uc001pgt.3	uc001pgt.3	P46937	P46937	OTTHUMG00000167322	OTTHUMG00000167322	ENST00000282441.5:c.1105G>A	11.37:g.102094425G>A	ENSP00000282441:p.Gly369Arg		YAP1_ENST00000524575.1_Missense_Mutation_p.G191R|YAP1_ENST00000537274.1_Missense_Mutation_p.G357R|YAP1_ENST00000345877.2_Missense_Mutation_p.G319R|YAP1_ENST00000526343.1_Missense_Mutation_p.G315R|YAP1_ENST00000531439.1_Missense_Mutation_p.G353R	p.G369R	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)	7	1493	+	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	369	Transactivation domain.	B4DTY1|B7ZA01|E3WEB5|E3WEB6|E9PRV2|F5H202|K0KQ18|K0KYZ8|K0L195|K0L1G3|Q7Z574|Q8IUY9	Missense_Mutation	SNP	ENST00000282441.5	37	c.1105G>A	CCDS44716.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.577182	0.86645	.	.	ENSG00000137693	ENST00000526343;ENST00000282441;ENST00000537274;ENST00000345877;ENST00000445250;ENST00000531439;ENST00000524575	T;T;T	0.43688	0.94;0.98;0.94	5.49	5.49	0.81192	5.49	5.49	0.81192	.	0.134476	0.48767	D	0.000162	T	0.56124	0.1964	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.997;1.0;0.999;0.956;0.999;1.0	T	0.58691	-0.7592	10	0.87932	D	0	.	19.7375	0.96212	0.0:0.0:1.0:0.0	.	191;286;315;353;369;319	B4DTY1;F5GWC5;E9PRV2;P46937-2;P46937;P46937-3	.;.;.;.;YAP1_HUMAN;.	R	315;369;357;319;286;353;191	ENSP00000434134:G315R;ENSP00000331023:G319R;ENSP00000435602:G191R	ENSP00000282441:G369R	G	+	1	0	0	YAP1	101599635	101599635	1.000000	0.71417	0.969000	0.41365	0.977000	0.68977	7.506000	0.81665	2.753000	0.94483	0.555000	0.69702	GGG		0.438	YAP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394151.1		107.776643	-3	-3	77	77	NM_006106		33	107.780013	107.780013	32	0.507692	0	0	0	1	0	33	32	0.507692
MERTK	10461	broad.mit.edu	37	2	112705055	112705055	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:112705055C>T	ENST00000295408.4	+	4	925	c.668C>T	c.(667-669)cCg>cTg	p.P223L	MERTK_ENST00000409780.1_Missense_Mutation_p.P47L|MERTK_ENST00000421804.2_Missense_Mutation_p.P223L			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	223	Ig-like C2-type 2.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GCTGTGGGCCCGCCTGAGCCC	0.517																																						ENST00000295408.4											0			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						c.(667-669)cCg>cTg	c-mer proto-oncogene tyrosine kinase						73.0	74.0	74.0					2																	112705055		2203	4300	6503	SO:0001583	missense	10461			cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112705055C>T	U08023	U08023	CCDS2094.1	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208	ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	7027	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604705	604705	"""c-mer proto-oncogene tyrosine kinase"""		"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	8086340, 10343112	Standard	Standard	XM_005263565	XM_005263565		Approved	mer, RP38	uc002thk.1	uc002thk.1	Q12866	Q12866	OTTHUMG00000131278	OTTHUMG00000131278	ENST00000295408.4:c.668C>T	2.37:g.112705055C>T	ENSP00000295408:p.Pro223Leu		MERTK_ENST00000421804.2_Missense_Mutation_p.P223L|MERTK_ENST00000409780.1_Missense_Mutation_p.P47L	p.P223L			Q12866	MERTK_HUMAN			4	925	+			223	Ig-like C2-type 2.	Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	c.668C>T	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.590406	0.86851	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000409780	T;T;T	0.12361	2.69;2.69;2.69	5.24	5.24	0.73138	5.24	5.24	0.73138	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.33290	U	0.005068	T	0.35158	0.0922	L	0.55834	1.745	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.03344	-1.1046	10	0.87932	D	0	-21.076	18.7692	0.91883	0.0:1.0:0.0:0.0	.	223	Q12866	MERTK_HUMAN	L	223;223;47	ENSP00000295408:P223L;ENSP00000389152:P223L;ENSP00000387277:P47L	ENSP00000295408:P223L	P	+	2	0	0	MERTK	112421526	112421526	0.999000	0.42202	0.956000	0.39512	0.909000	0.53808	5.740000	0.68629	2.608000	0.88229	0.655000	0.94253	CCG		0.517	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2		77.766914	-13	-13	56	56			25	77.866011	77.866011	30	0.454545	0	0	0	1	0	25	30	0.454545
UNC5C	8633	broad.mit.edu	37	4	96163728	96163728	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr4:96163728C>T	ENST00000453304.1	-	7	1308	c.960G>A	c.(958-960)acG>acA	p.T320T	UNC5C_ENST00000506749.1_Silent_p.T320T	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	320	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TGCTCCATGGCGTCCACCTGC	0.567																																						ENST00000453304.1											0			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55						c.(958-960)acG>acA	unc-5 homolog C (C. elegans)						26.0	21.0	23.0					4																	96163728		2203	4300	6503	SO:0001819	synonymous_variant	8633			apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96163728C>T	AF055634	AF055634	CCDS3643.1	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168	ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	"""Immunoglobulin superfamily / I-set domain containing"""	12569	12569	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603610	603610	"""unc5 (C.elegans homolog) c"""		"""unc5 (C.elegans homolog) c"""			9126742, 9782087	9126742, 9782087	Standard	Standard	NM_003728	NM_003728		Approved		uc003hto.3	uc003hto.3	O95185	O95185	OTTHUMG00000130989	OTTHUMG00000130989	ENST00000453304.1:c.960G>A	4.37:g.96163728C>T			UNC5C_ENST00000506749.1_Silent_p.T320T	p.T320T	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	7	1308	-		Hepatocellular(203;0.114)	320	TSP type-1 2.	Q8IUT0	Silent	SNP	ENST00000453304.1	37	c.960G>A	CCDS3643.1																																																																																									0.567	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1		21.421512	7	7	26	26	NM_003728		7	21.616008	21.616008	11	0.388889	0	0	0	1	0	7	11	0.388889
XIST	7503	broad.mit.edu	37	X	73071059	73071059	+	lincRNA	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:73071059G>A	ENST00000429829.1	-	0	1529					NR_001564.2				X inactive specific transcript (non-protein coding)																		TTAACAATGCGGCAAGCCCGC	0.517																																						ENST00000429829.1											0																	117.0	112.0	114.0					X																	73071059		876	1991	2867			0						g.chrX:73071059G>A	M97168	M97168			Xq13.2	2013-12-18	2013-02-07		2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807	ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	"""Long non-coding RNAs"", ""-"""	12810	12810	non-coding RNA	RNA, long non-coding	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	"""long intergenic non-protein coding RNA 1"""	314670	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	1985261, 2034279	Standard	Standard	NR_001564	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2	uc004ebm.2			OTTHUMG00000021839	OTTHUMG00000021839		X.37:g.73071059G>A					NR_001564.2						0	1529	-						RNA	SNP	ENST00000429829.1	37																																																																																											0.517	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1		86.953968	-18	-18	122	122	NR_001564		32	87.439529	87.439529	45	0.415584	0	0	0	1	0	32	45	0.415584
FRAS1	80144	broad.mit.edu	37	4	79334177	79334177	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr4:79334177G>A	ENST00000325942.6	+	32	4803	c.4363G>A	c.(4363-4365)Gcg>Acg	p.A1455T	FRAS1_ENST00000264895.6_Missense_Mutation_p.A1455T	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1455					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GTTCAACATCGCGATCTTACC	0.512																																						ENST00000264895.6											0			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(4363-4365)Gcg>Acg	Fraser syndrome 1						124.0	126.0	125.0					4																	79334177		1980	4163	6143	SO:0001583	missense	80144			cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79334177G>A	AB040933	AB040933	CCDS54772.1	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759	ENSG00000138759	ENSG00000138759				19185	19185	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607830	607830	"""Fraser syndrome 1"""		"""Fraser syndrome 1"""			12766769, 3118036	12766769, 3118036	Standard	Standard	NM_025074	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	uc003hlb.2	Q86XX4	Q86XX4	OTTHUMG00000160856	OTTHUMG00000160856	ENST00000325942.6:c.4363G>A	4.37:g.79334177G>A	ENSP00000326330:p.Ala1455Thr		FRAS1_ENST00000325942.6_Missense_Mutation_p.A1455T	p.A1455T	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			32	4803	+			1454		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	c.4363G>A	CCDS54772.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.034512	0.54896	.	.	ENSG00000138759	ENST00000325942;ENST00000264895	T;T	0.51325	0.71;0.71	6.17	6.17	0.99709	6.17	6.17	0.99709	.	0.114253	0.64402	D	0.000014	T	0.57784	0.2077	N	0.25485	0.75	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.66716	0.743;0.946	T	0.50013	-0.8877	10	0.33141	T	0.24	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1455;1455	E9PHH6;A2RRR8	.;.	T	1455	ENSP00000326330:A1455T;ENSP00000264895:A1455T	ENSP00000264895:A1455T	A	+	1	0	0	FRAS1	79553201	79553201	1.000000	0.71417	0.972000	0.41901	0.092000	0.18411	6.566000	0.73978	2.941000	0.99782	0.655000	0.94253	GCG		0.512	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2		16.535603	2	2	16	16			6	16.669666	16.669666	9	0.400000	0	0	0	1	0	6	9	0.4
KCNC1	3746	broad.mit.edu	37	11	17793391	17793391	+	Silent	SNP	C	C	T	rs147271572	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:17793391C>T	ENST00000379472.3	+	2	780	c.750C>T	c.(748-750)ggC>ggT	p.G250G	KCNC1_ENST00000265969.6_Silent_p.G250G	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	250					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	ACATCGAGGGCGTCTGTGTGG	0.537													C|||	3	0.000599042	0.0	0.0	5008	,	,		22119	0.003		0.0	False		,,,				2504	0.0					ENST00000379472.3											0			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(748-750)ggC>ggT	potassium voltage-gated channel, Shaw-related subfamily, member 1						324.0	267.0	286.0					11																	17793391		2200	4293	6493	SO:0001819	synonymous_variant	3746				voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:17793391C>T	M96747	M96747	CCDS7827.1, CCDS44547.1	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			2012-07-05			ENSG00000129159	ENSG00000129159	ENSG00000129159	ENSG00000129159		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6233	6233	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			176258	176258						8449507, 16382104	8449507, 16382104	Standard	Standard	NM_004976	NM_004976		Approved	Kv3.1	uc009yhc.1	uc009yhc.1	P48547	P48547	OTTHUMG00000166359	OTTHUMG00000166359	ENST00000379472.3:c.750C>T	11.37:g.17793391C>T			KCNC1_ENST00000265969.6_Silent_p.G250G	p.G250G	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN			2	780	+			250		K4DI87	Silent	SNP	ENST00000379472.3	37	c.750C>T	CCDS7827.1																																																																																									0.537	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1		83.717002	9	9	144	144	NM_004976		32	85.46362	85.463620	59	0.351648	0	0	0	1	0	32	59	0.351648
THSD4	79875	broad.mit.edu	37	15	71952898	71952898	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr15:71952898C>T	ENST00000355327.3	+	8	1316	c.1182C>T	c.(1180-1182)tcC>tcT	p.S394S	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Silent_p.S34S|THSD4_ENST00000261862.6_Silent_p.S394S			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	394					elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ACTTAGGCTCCGACAAAGTCG	0.507																																						ENST00000355327.3											0			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1180-1182)tcC>tcT	thrombospondin, type I, domain containing 4						178.0	179.0	179.0					15																	71952898		1975	4171	6146	SO:0001819	synonymous_variant	79875				proteinaceous extracellular matrix	metalloendopeptidase activity	g.chr15:71952898C>T	AK023772	AK023772	CCDS10238.2, CCDS66817.1	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			2009-11-09			ENSG00000187720	ENSG00000187720	ENSG00000187720	ENSG00000187720				25835	25835	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614476	614476						19734141	19734141	Standard	Standard	NM_001286429	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	uc002atb.1	Q6ZMP0	Q6ZMP0	OTTHUMG00000133389	OTTHUMG00000133389	ENST00000355327.3:c.1182C>T	15.37:g.71952898C>T			THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Silent_p.S394S|THSD4_ENST00000357769.4_Silent_p.S34S	p.S394S			Q6ZMP0	THSD4_HUMAN			8	1316	+			394		B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Silent	SNP	ENST00000355327.3	37	c.1182C>T	CCDS10238.2																																																																																									0.507	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2		41.956780	-27	-27	201	201	NM_024817		22	59.253657	59.253657	125	0.149660	0	0	0	1	0	22	125	0.14966
DHRS3	9249	broad.mit.edu	37	1	12677172	12677172	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:12677172C>T	ENST00000376223.2	-	1	565	c.182G>A	c.(181-183)cGc>cAc	p.R61H	DHRS3_ENST00000482265.1_5'Flank|RP11-474O21.5_ENST00000606790.1_lincRNA	NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	61					bone morphogenesis (GO:0060349)|cardiac septum morphogenesis (GO:0060411)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|phototransduction, visible light (GO:0007603)|regulation of ossification (GO:0030278)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|photoreceptor outer segment membrane (GO:0042622)	electron carrier activity (GO:0009055)|NADP-retinol dehydrogenase activity (GO:0052650)|nucleotide binding (GO:0000166)|retinol dehydrogenase activity (GO:0004745)	p.R61H(1)		cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	TCTGGCGCCGCGCTCCGCGAA	0.746																																						ENST00000376223.2											1	Substitution - Missense(1)	cervix(1)	cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9						c.(181-183)cGc>cAc	dehydrogenase/reductase (SDR family) member 3						19.0	23.0	22.0					1																	12677172		2195	4277	6472	SO:0001583	missense	9249			retinol metabolic process|visual perception	integral to membrane	electron carrier activity|NADP-retinol dehydrogenase activity|nucleotide binding	g.chr1:12677172C>T	AF061741	AF061741	CCDS146.1	CCDS146.1	1p36.1	2011-09-20			2011-09-20			ENSG00000162496	ENSG00000162496	ENSG00000162496	ENSG00000162496	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	17693	17693	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 16C, member 1"""	"""short chain dehydrogenase/reductase family 16C, member 1"""	612830	612830						9705317, 12226107, 19027726	9705317, 12226107, 19027726	Standard	Standard	XM_005263533	XM_005263533		Approved	retSDR1, Rsdr1, SDR1, RDH17, SDR16C1	uc001auc.3	uc001auc.3	O75911	O75911	OTTHUMG00000001885	OTTHUMG00000001885	ENST00000376223.2:c.182G>A	1.37:g.12677172C>T	ENSP00000365397:p.Arg61His			p.R61H	NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	1	565	-	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	61		B2R7F3|Q5VUY3|Q6UY38|Q9BUC8	Missense_Mutation	SNP	ENST00000376223.2	37	c.182G>A	CCDS146.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.208849	0.39003	.	.	ENSG00000162496	ENST00000376223	D	0.88509	-2.39	5.04	5.04	0.67666	5.04	5.04	0.67666	NAD(P)-binding domain (1);	0.057178	0.64402	D	0.000001	T	0.81389	0.4812	L	0.35593	1.075	0.49299	D	0.999772	B;B;B	0.28667	0.002;0.219;0.004	B;B;B	0.26310	0.001;0.068;0.002	T	0.76677	-0.2871	10	0.21014	T	0.42	.	10.937	0.47251	0.0:0.9142:0.0:0.0858	.	61;61;61	B2R7F3;O75911-2;O75911	.;.;DHRS3_HUMAN	H	61	ENSP00000365397:R61H	ENSP00000365397:R61H	R	-	2	0	0	DHRS3	12599759	12599759	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.571000	0.53841	2.318000	0.78349	0.462000	0.41574	CGC		0.746	DHRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005318.1		15.840722	-1	-1	31	31	NM_004753		6	16.706419	16.706419	15	0.285714	0	0	0	1	0	6	15	0.285714
SCN4A	6329	broad.mit.edu	37	17	62018497	62018497	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:62018497G>A	ENST00000435607.1	-	24	5221	c.5145C>T	c.(5143-5145)taC>taT	p.Y1715Y	SCN4A_ENST00000578147.1_Silent_p.Y1715Y	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1715					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGATGGGCTCGTAGGACACCT	0.607																																						ENST00000435607.1											0			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(5143-5145)taC>taT	sodium channel, voltage-gated, type IV, alpha subunit						138.0	137.0	137.0					17																	62018497		2094	4218	6312	SO:0001819	synonymous_variant	6329			muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62018497G>A	U24693	U24693			17q23.3	2012-02-26	2007-01-23		2012-02-26	2007-01-23							"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	10591	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603967	603967		HYKPP		HYKPP		1654742, 1659948, 16382098	1654742, 1659948, 16382098	Standard	Standard	XM_005257566	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	uc002jds.1	P35499	P35499			ENST00000435607.1:c.5145C>T	17.37:g.62018497G>A			SCN4A_ENST00000578147.1_Silent_p.Y1715Y	p.Y1715Y	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN			24	5221	-			1715		Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	c.5145C>T	CCDS45761.1																																																																																									0.607	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			72.895300	17	17	101	101	NM_000334		24	72.962129	72.962129	28	0.461538	0	0	0	1	0	24	28	0.461538
PLCB4	5332	broad.mit.edu	37	20	9389753	9389753	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr20:9389753G>A	ENST00000378493.1	+	20	1903	c.1888G>A	c.(1888-1890)Gat>Aat	p.D630N	PLCB4_ENST00000378501.2_Missense_Mutation_p.D630N|PLCB4_ENST00000278655.4_Missense_Mutation_p.D630N|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.D630N|PLCB4_ENST00000378473.3_Missense_Mutation_p.D642N|PLCB4_ENST00000414679.2_Missense_Mutation_p.D642N			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	630	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AGGCCGAGTCGATTCCAGTAA	0.448																																						ENST00000378501.2											0			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(1888-1890)Gat>Aat	phospholipase C, beta 4						67.0	57.0	60.0					20																	9389753		2203	4300	6503	SO:0001583	missense	5332			intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9389753G>A			CCDS13104.1, CCDS13105.1, CCDS54447.1	CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			2008-03-18			ENSG00000101333	ENSG00000101333	ENSG00000101333	ENSG00000101333	3.1.4.11			9059	9059	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600810	600810						8530101	8530101	Standard	Standard	NM_000933	NM_000933		Approved		uc021wam.1	uc021wam.1	Q15147	Q15147	OTTHUMG00000031853	OTTHUMG00000031853	ENST00000378493.1:c.1888G>A	20.37:g.9389753G>A	ENSP00000367754:p.Asp630Asn		PLCB4_ENST00000378493.1_Missense_Mutation_p.D630N|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Missense_Mutation_p.D630N|PLCB4_ENST00000378473.3_Missense_Mutation_p.D642N|PLCB4_ENST00000334005.3_Missense_Mutation_p.D630N|PLCB4_ENST00000414679.2_Missense_Mutation_p.D642N	p.D630N	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN			20	1903	+			630	PI-PLC Y-box.	B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.1888G>A	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	G	36	5.638738	0.96693	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43	6.04	6.04	0.98038	6.04	6.04	0.98038	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.000000	0.85682	D	0.000000	T	0.72463	0.3463	M	0.63428	1.95	0.80722	D	1	P;B;D;P	0.76494	0.869;0.224;0.999;0.909	P;B;D;B	0.76071	0.514;0.084;0.987;0.379	T	0.71391	-0.4607	10	0.62326	D	0.03	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	642;477;630;630	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	N	630;642;630;630;630;478	ENSP00000334105:D630N;ENSP00000367734:D642N;ENSP00000278655:D630N;ENSP00000367754:D630N;ENSP00000367762:D630N;ENSP00000390616:D478N	ENSP00000278655:D630N	D	+	1	0	0	PLCB4	9337753	9337753	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	9.869000	0.99810	2.873000	0.98535	0.561000	0.74099	GAT		0.448	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2		25.414297	-41	-41	61	61			12	31.649886	31.649886	54	0.181818	0	0	0	1	0	12	54	0.181818
GTF2E2	2961	broad.mit.edu	37	8	30511073	30511073	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr8:30511073G>A	ENST00000355904.4	-	2	325	c.43C>T	c.(43-45)Cga>Tga	p.R15*		NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	15					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIE complex (GO:0005673)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		GAAAGAGCTCGTTTTTTGAAC	0.378																																						ENST00000355904.4											0			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(43-45)Cga>Tga	general transcription factor IIE, polypeptide 2, beta 34kDa						94.0	91.0	92.0					8																	30511073		2203	4300	6503	SO:0001587	stop_gained	2961			regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding	g.chr8:30511073G>A	BC030572	BC030572	CCDS6078.1	CCDS6078.1	8p12	2010-03-23	2002-08-29		2010-03-23	2002-08-29		ENSG00000197265	ENSG00000197265	ENSG00000197265	ENSG00000197265		"""General transcription factors"""	"""General transcription factors"""	4651	4651	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			189964	189964	"""general transcription factor IIE, polypeptide 2 (beta subunit, 34kD)"""		"""general transcription factor IIE, polypeptide 2 (beta subunit, 34kD)"""			1956404	1956404	Standard	Standard	NM_002095	NM_002095		Approved	TFIIE-B, FE, TF2E2	uc003xig.3	uc003xig.3	P29084	P29084	OTTHUMG00000163934	OTTHUMG00000163934	ENST00000355904.4:c.43C>T	8.37:g.30511073G>A	ENSP00000348168:p.Arg15*			p.R15*	NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)	2	325	-			15		D3DSV2|Q9H2B9	Nonsense_Mutation	SNP	ENST00000355904.4	37	c.43C>T	CCDS6078.1	.	.	.	.	.	.	.	.	.	.	G	37	5.991135	0.97179	.	.	ENSG00000197265	ENST00000355904;ENST00000518599;ENST00000518445	.	.	.	5.7	3.85	0.44370	5.7	3.85	0.44370	.	0.064443	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.9014	10.7869	0.46411	0.0:0.1424:0.7097:0.1479	.	.	.	.	X	15	.	ENSP00000348168:R15X	R	-	1	2	2	GTF2E2	30630615	30630615	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.603000	0.54074	0.708000	0.31955	0.644000	0.83932	CGA		0.378	GTF2E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376459.2		48.593988	-4	-4	60	60	NM_002095		16	48.800574	48.800574	22	0.421053	0	0	0	1	0	16	22	0.421053
CDC27	996	broad.mit.edu	37	17	45258967	45258967	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:45258967G>A	ENST00000066544.3	-	2	157	c.64C>T	c.(64-66)Cga>Tga	p.R22*	CDC27_ENST00000531206.1_Nonsense_Mutation_p.R22*|CDC27_ENST00000446365.2_Missense_Mutation_p.P10L|CDC27_ENST00000527547.1_Nonsense_Mutation_p.R22*|CDC27_ENST00000528748.1_5'UTR	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	22					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						ACCGCATCTCGGTAAGCATAG	0.363																																						ENST00000066544.3											0			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(64-66)Cga>Tga	cell division cycle 27						35.0	35.0	35.0					17																	45258967		2203	4300	6503	SO:0001587	stop_gained	996			anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45258967G>A	U00001	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897	ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	1728	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	"""anaphase promoting complex subunit 3"""	116946	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	8234252	Standard	Standard	XM_005257892	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	uc002ile.4	P30260	P30260	OTTHUMG00000166429	OTTHUMG00000166429	ENST00000066544.3:c.64C>T	17.37:g.45258967G>A	ENSP00000066544:p.Arg22*		CDC27_ENST00000527547.1_Nonsense_Mutation_p.R22*|CDC27_ENST00000531206.1_Nonsense_Mutation_p.R22*|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000446365.2_Missense_Mutation_p.P10L	p.R22*	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			2	157	-			22		G3V1C4|Q16349|Q96F35	Nonsense_Mutation	SNP	ENST00000066544.3	37	c.64C>T	CCDS11509.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.468514|6.468514	0.97590|0.97590	.|.	.|.	ENSG00000004897|ENSG00000004897	ENST00000446365|ENST00000066544;ENST00000531206;ENST00000533415;ENST00000527547;ENST00000526866	T|.	0.75704|.	-0.96|.	4.93|4.93	3.95|3.95	0.45737|0.45737	4.93|4.93	3.95|3.95	0.45737|0.45737	.|.	.|0.075603	.|0.52532	.|D	.|0.000061	T|.	0.25382|.	0.0617|.	.|.	.|.	.|.	0.35175|0.35175	D|D	0.771941|0.771941	B|.	0.31519|.	0.327|.	B|.	0.19946|.	0.027|.	T|.	0.27157|.	-1.0082|.	8|.	0.87932|0.02654	D|T	0|1	-12.8139|-12.8139	10.1835|10.1835	0.42984|0.42984	0.0:0.0:0.6088:0.3912|0.0:0.0:0.6088:0.3912	.|.	10|.	B4DL80|.	.|.	L|X	10|22	ENSP00000392802:P10L|.	ENSP00000392802:P10L|ENSP00000066544:R22X	P|R	-|-	2|1	0|2	0|2	CDC27|CDC27	42613966|42613966	42613966|42613966	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	4.795000|4.795000	0.62489|0.62489	1.275000|1.275000	0.44379|0.44379	0.462000|0.462000	0.41574|0.41574	CCG|CGA		0.363	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2		11.959733	-14	-14	23	23			5	14.258374	14.258374	21	0.192308	0	0	0	1	0	5	21	0.192308
KIAA1958	158405	broad.mit.edu	37	9	115421680	115421680	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:115421680C>T	ENST00000337530.6	+	4	1778	c.1482C>T	c.(1480-1482)gtC>gtT	p.V494V	KIAA1958_ENST00000536272.1_Silent_p.V522V	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	494										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						ATGCAGGTGTCGGCTTTTCCA	0.582																																						ENST00000337530.6											0			endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						c.(1480-1482)gtC>gtT	KIAA1958						49.0	46.0	47.0					9																	115421680		2203	4300	6503	SO:0001819	synonymous_variant	158405						g.chr9:115421680C>T	AB075838	AB075838	CCDS35108.1, CCDS69642.1	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			2009-09-22			ENSG00000165185	ENSG00000165185	ENSG00000165185	ENSG00000165185				23427	23427	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001287038	NM_001287038		Approved	FLJ39294	uc004bgf.1	uc004bgf.1	Q8N8K9	Q8N8K9	OTTHUMG00000020508	OTTHUMG00000020508	ENST00000337530.6:c.1482C>T	9.37:g.115421680C>T			KIAA1958_ENST00000536272.1_Silent_p.V522V	p.V494V	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN			4	1778	+			494		B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Silent	SNP	ENST00000337530.6	37	c.1482C>T	CCDS35108.1																																																																																									0.582	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053690.1		28.638649	4	4	48	48	NM_133465		10	29.927158	29.927158	24	0.294118	0	0	0	1	0	10	24	0.294118
PLA2G7	7941	broad.mit.edu	37	6	46678287	46678287	+	Missense_Mutation	SNP	G	G	C			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:46678287G>C	ENST00000274793.7	-	8	968	c.772C>G	c.(772-774)Ctg>Gtg	p.L258V	PLA2G7_ENST00000541026.1_Missense_Mutation_p.L131V|PLA2G7_ENST00000538237.1_Missense_Mutation_p.L213V|PLA2G7_ENST00000537365.1_Missense_Mutation_p.L258V	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	258					cellular protein metabolic process (GO:0044267)|lipid catabolic process (GO:0016042)|lipid oxidation (GO:0034440)|low-density lipoprotein particle remodeling (GO:0034374)|plasma lipoprotein particle oxidation (GO:0034441)|positive regulation of inflammatory response (GO:0050729)|positive regulation of monocyte chemotaxis (GO:0090026)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|low-density lipoprotein particle (GO:0034362)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			CTTACCTTCAGTTGTTCCATA	0.313																																						ENST00000274793.7											0			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14						c.(772-774)Ctg>Gtg	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)						94.0	93.0	93.0					6																	46678287		2203	4300	6503	SO:0001583	missense	7941			inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	g.chr6:46678287G>C	U20157	U20157	CCDS4917.1	CCDS4917.1	6p21.2-p12	2008-09-19			2008-09-19			ENSG00000146070	ENSG00000146070	ENSG00000146070	ENSG00000146070	3.1.1.4			9040	9040	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601690	601690						7700381, 8624782	7700381, 8624782	Standard	Standard	NM_005084	NM_005084		Approved	PAFAH, LDL-PLA2	uc021zae.1	uc021zae.1	Q13093	Q13093	OTTHUMG00000014789	OTTHUMG00000014789	ENST00000274793.7:c.772C>G	6.37:g.46678287G>C	ENSP00000274793:p.Leu258Val		PLA2G7_ENST00000538237.1_Missense_Mutation_p.L213V|PLA2G7_ENST00000537365.1_Missense_Mutation_p.L258V|PLA2G7_ENST00000541026.1_Missense_Mutation_p.L131V	p.L258V	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	Lung(136;0.192)		8	968	-			258		A5HTT5|Q15692|Q5VTT1|Q8IVA2	Missense_Mutation	SNP	ENST00000274793.7	37	c.772C>G	CCDS4917.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.402737	0.42613	.	.	ENSG00000146070	ENST00000274793;ENST00000537365;ENST00000538237;ENST00000541026	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	5.87	4.06	0.47325	5.87	4.06	0.47325	.	0.142315	0.48286	D	0.000182	T	0.62380	0.2423	M	0.88105	2.93	0.28191	N	0.927767	D;P;D;D	0.64830	0.988;0.858;0.994;0.994	D;P;P;D	0.65140	0.932;0.678;0.899;0.925	T	0.59632	-0.7418	10	0.39692	T	0.17	.	6.009	0.19565	0.1347:0.0:0.5854:0.2799	.	131;213;258;258	B4DLM5;F5GYY6;A8K2W6;Q13093	.;.;.;PAFA_HUMAN	V	258;258;213;131	ENSP00000274793:L258V;ENSP00000445666:L258V;ENSP00000441416:L213V;ENSP00000444164:L131V	ENSP00000274793:L258V	L	-	1	2	2	PLA2G7	46786246	46786246	0.439000	0.25610	0.979000	0.43373	0.636000	0.38137	0.671000	0.25172	0.786000	0.33708	0.655000	0.94253	CTG		0.313	PLA2G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040802.1		3.169029	-7	-7	55	55			4	9.310131	9.310131	35	0.102564	0	0	0	1	0	4	35	0.102564
THBS2	7058	broad.mit.edu	37	6	169648976	169648976	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:169648976C>T	ENST00000366787.3	-	4	394	c.145G>A	c.(145-147)Gac>Aac	p.D49N		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	49	Heparin-binding. {ECO:0000255}.|Laminin G-like.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		ACGCCGGGGTCGGGCCCGCGG	0.577																																					Esophageal Squamous(91;219 1934 18562 44706)	ENST00000366787.3											0			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111						c.(145-147)Gac>Aac	thrombospondin 2						97.0	79.0	85.0					6																	169648976		2203	4300	6503	SO:0001583	missense	7058			cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169648976C>T			CCDS34574.1	CCDS34574.1	6q27	2008-07-28			2008-07-28			ENSG00000186340	ENSG00000186340	ENSG00000186340	ENSG00000186340				11786	11786	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			188061	188061						18455130	18455130	Standard	Standard	NM_003247	NM_003247		Approved	TSP2	uc003qwt.3	uc003qwt.3	P35442	P35442	OTTHUMG00000045408	OTTHUMG00000045408	ENST00000366787.3:c.145G>A	6.37:g.169648976C>T	ENSP00000355751:p.Asp49Asn			p.D49N	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	4	394	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	49	Heparin-binding (Potential).|TSP N-terminal.	A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.145G>A	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.981105	0.34942	.	.	ENSG00000186340	ENST00000366787;ENST00000435791	T;T	0.02280	4.36;4.36	4.42	4.42	0.53409	4.42	4.42	0.53409	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.42821	U	0.000644	T	0.01558	0.0050	M	0.66939	2.045	0.27434	N	0.95393	B	0.10296	0.003	B	0.06405	0.002	T	0.27331	-1.0077	10	0.87932	D	0	-43.6698	11.9595	0.53001	0.0:0.9152:0.0:0.0848	.	49	P35442	TSP2_HUMAN	N	49	ENSP00000355751:D49N;ENSP00000398928:D49N	ENSP00000355751:D49N	D	-	1	0	0	THBS2	169390901	169390901	0.549000	0.26481	0.332000	0.25469	0.472000	0.32918	1.063000	0.30567	2.180000	0.69256	0.462000	0.41574	GAC		0.577	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1		12.437873	10	10	43	43	NM_003247		6	14.546889	14.546889	22	0.214286	0	0	0	1	0	6	22	0.214286
MAN2B1	4125	broad.mit.edu	37	19	12758281	12758281	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:12758281G>A	ENST00000456935.2	-	22	2836	c.2796C>T	c.(2794-2796)agC>agT	p.S932S	MAN2B1_ENST00000221363.4_Silent_p.S931S|CTD-2192J16.22_ENST00000597692.1_Missense_Mutation_p.R119C	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	932					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TAACGGGGGCGCTCAGGTTAC	0.592																																						ENST00000597692.1											0										c.(355-357)Cgc>Tgc							113.0	109.0	110.0					19																	12758281		2203	4300	6503	SO:0001819	synonymous_variant	0						g.chr19:12758281G>A			CCDS32919.1, CCDS54224.1		19p13.2	2013-09-20						ENSG00000104774	ENSG00000104774			3.2.1.24			6826		protein-coding gene	gene with protein product					609458			MANB						Standard		NM_000528			Approved	LAMAN	uc002mub.2		O00754		OTTHUMG00000156397		ENST00000456935.2:c.2796C>T	19.37:g.12758281G>A			MAN2B1_ENST00000221363.4_Silent_p.S931S|MAN2B1_ENST00000456935.2_Silent_p.S932S	p.R119C							2	354	-					G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	ENST00000456935.2	37	c.355C>T	CCDS32919.1																																																																																									0.592	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1		24.431556	5	5	127	127			13	32.645417	32.645417	65	0.166667	0	0	0	1	0	13	65	0.166667
TRPM2	7226	broad.mit.edu	37	21	45784126	45784126	+	Silent	SNP	C	C	T	rs143653746		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr21:45784126C>T	ENST00000397928.1	+	3	829	c.384C>T	c.(382-384)ggC>ggT	p.G128G	TRPM2_ENST00000397932.2_Silent_p.G128G|TRPM2_ENST00000300481.9_Silent_p.G128G|TRPM2_ENST00000300482.5_Silent_p.G128G	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	128					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						ATGCCTTTGGCGACATCGTCT	0.562													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21085	0.0		0.0	False		,,,				2504	0.0					ENST00000397928.1											0			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(382-384)ggC>ggT	transient receptor potential cation channel, subfamily M, member 2	C		3,4403	6.2+/-15.9	0,3,2200	181.0	139.0	153.0		384	-1.8	1.0	21	dbSNP_134	153	0,8600		0,0,4300	no	coding-synonymous	TRPM2	NM_003307.3		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		128/1504	45784126	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	7226				integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45784126C>T	AB001535	AB001535	CCDS13710.1	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	12339	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603749	603749		TRPC7		TRPC7		9806837, 11385575, 16382100	9806837, 11385575, 16382100	Standard	Standard	NR_038257	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	uc002zew.1	O94759	O94759	OTTHUMG00000040840	OTTHUMG00000040840	ENST00000397928.1:c.384C>T	21.37:g.45784126C>T			TRPM2_ENST00000300482.5_Silent_p.G128G|TRPM2_ENST00000300481.9_Silent_p.G128G|TRPM2_ENST00000397932.2_Silent_p.G128G	p.G128G	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN			3	829	+			128		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Silent	SNP	ENST00000397928.1	37	c.384C>T	CCDS13710.1																																																																																									0.562	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1		32.916276	-16	-16	69	69	NM_003307		11	33.605903	33.605903	21	0.343750	0	0	0	1	0	11	21	0.34375
CSF3	1440	broad.mit.edu	37	17	38173107	38173107	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:38173107C>T	ENST00000225474.2	+	5	550	c.519C>T	c.(517-519)ttC>ttT	p.F173F	CSF3_ENST00000331769.2_Silent_p.F166F|CSF3_ENST00000394149.3_Silent_p.F170F|RP11-387H17.6_ENST00000583462.1_lincRNA|CSF3_ENST00000394148.3_Silent_p.F137F|CSF3_ENST00000577675.1_Silent_p.F130F			P09919	CSF3_HUMAN	colony stimulating factor 3 (granulocyte)	173					cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|granulocyte differentiation (GO:0030851)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|negative regulation of neuron death (GO:1901215)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|enzyme binding (GO:0019899)|granulocyte colony-stimulating factor receptor binding (GO:0005130)			endometrium(1)|ovary(1)|prostate(1)	3	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)				TGCCGGCCTTCGCCTCTGCTT	0.647																																						ENST00000331769.2											0			endometrium(1)|ovary(1)|prostate(1)	3						c.(496-498)ttC>ttT	colony stimulating factor 3 (granulocyte)						52.0	50.0	50.0					17																	38173107		2203	4300	6503	SO:0001819	synonymous_variant	1440			cytokine-mediated signaling pathway|granulocyte differentiation|immune response|positive regulation of cell proliferation	extracellular space	cytokine activity|enzyme binding|granulocyte colony-stimulating factor receptor binding|growth factor activity	g.chr17:38173107C>T			CCDS11357.1, CCDS11358.1, CCDS42314.1, CCDS11358.2	CCDS11357.1, CCDS11358.1, CCDS42314.1, CCDS11358.2	17q11.2-q12	2014-01-30			2014-01-30			ENSG00000108342	ENSG00000108342	ENSG00000108342	ENSG00000108342		"""Endogenous ligands"""	"""Endogenous ligands"""	2438	2438	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""granulocyte colony stimulating factor"", ""pluripoietin"", ""filgrastim"", ""lenograstim"""	"""granulocyte colony stimulating factor"", ""pluripoietin"", ""filgrastim"", ""lenograstim"""	138970	138970	"""chromosome 17 open reading frame 33"""	GCSF, G-CSF, C17orf33	"""chromosome 17 open reading frame 33"""	GCSF, G-CSF, C17orf33		3499671, 3501046	3499671, 3501046	Standard	Standard	NM_000759	NM_000759		Approved	MGC45931	uc002htp.3	uc002htp.3	P09919	P09919	OTTHUMG00000133247	OTTHUMG00000133247	ENST00000225474.2:c.519C>T	17.37:g.38173107C>T			CSF3_ENST00000225474.2_Silent_p.F173F|CSF3_ENST00000394149.3_Silent_p.F170F|CSF3_ENST00000577675.1_Silent_p.F130F|CSF3_ENST00000394148.3_Silent_p.F137F	p.F166F			P09919	CSF3_HUMAN			4	714	+	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)	173		A8MXR7	Silent	SNP	ENST00000225474.2	37	c.498C>T	CCDS11357.1																																																																																									0.647	CSF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256988.2		4.542340	-7	-7	48	48	NM_172220		5	11.520914	11.520914	41	0.108696	0	0	0	1	0	5	41	0.108696
CHST15	51363	broad.mit.edu	37	10	125805354	125805354	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr10:125805354G>A	ENST00000346248.5	-	2	1017	c.375C>T	c.(373-375)agC>agT	p.S125S	CHST15_ENST00000435907.1_Silent_p.S125S|CHST15_ENST00000421115.1_Silent_p.S125S|CHST15_ENST00000462406.1_5'Flank	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	125					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TTGGGTTTTCGCTGTCCATCA	0.438																																						ENST00000346248.5											0			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						c.(373-375)agC>agT	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15						147.0	160.0	156.0					10																	125805354		2203	4300	6503	SO:0001819	synonymous_variant	51363			hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity	g.chr10:125805354G>A	AB011170	AB011170	CCDS7638.1	CCDS7638.1	10q26	2009-07-09			2009-07-09			ENSG00000182022	ENSG00000182022	ENSG00000182022	ENSG00000182022	2.8.2.33	"""Sulfotransferases, membrane-bound"""	"""Sulfotransferases, membrane-bound"""	18137	18137	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""B cell RAG associated protein"", ""N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"""	"""B cell RAG associated protein"", ""N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"""	608277	608277						9628581, 9754571, 11572857	9628581, 9754571, 11572857	Standard	Standard	NM_014863	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	uc001lhm.4	Q7LFX5	Q7LFX5	OTTHUMG00000019208	OTTHUMG00000019208	ENST00000346248.5:c.375C>T	10.37:g.125805354G>A			CHST15_ENST00000421115.1_Silent_p.S125S|CHST15_ENST00000435907.1_Silent_p.S125S	p.S125S	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN			2	1017	-			125		O60338|O60474|Q86VM4	Silent	SNP	ENST00000346248.5	37	c.375C>T	CCDS7638.1																																																																																									0.438	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1		-6.931403	-19	-19	176	176	NM_015892		6	12.767514	12.767514	92	0.061224	0	0	0	1	0	6	92	0.061224
TCF19	6941	broad.mit.edu	37	6	31130268	31130268	+	Missense_Mutation	SNP	G	G	A	rs142309377	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:31130268G>A	ENST00000376257.3	+	4	1566	c.812G>A	c.(811-813)cGt>cAt	p.R271H	TCF19_ENST00000376255.4_Missense_Mutation_p.R271H|TCF19_ENST00000496421.1_3'UTR	NM_007109.2	NP_009040.2	Q9Y242	TCF19_HUMAN	transcription factor 19	271	Pro-rich.				cell proliferation (GO:0008283)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						CGACGTGGCCGTCCTCGGAAG	0.607													G|||	6	0.00119808	0.0	0.0	5008	,	,		19265	0.005		0.0	False		,,,				2504	0.001					ENST00000376257.3											0			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						c.(811-813)cGt>cAt	transcription factor 19						84.0	92.0	89.0					6																	31130268		1287	2550	3837	SO:0001583	missense	6941			cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:31130268G>A	U25826	U25826	CCDS43446.1	CCDS43446.1	6p21.3	2013-01-28	2009-02-05		2013-01-28	2009-02-05		ENSG00000137310	ENSG00000137310	ENSG00000137310	ENSG00000137310		"""Zinc fingers, PHD-type"""	"""Zinc fingers, PHD-type"""	11629	11629	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600912	600912						1868030, 8595903	1868030, 8595903	Standard	Standard	NM_001077511	NM_001077511		Approved	SC1	uc003nss.3	uc003nss.3	Q9Y242	Q9Y242	OTTHUMG00000031274	OTTHUMG00000031274	ENST00000376257.3:c.812G>A	6.37:g.31130268G>A	ENSP00000365433:p.Arg271His		TCF19_ENST00000496421.1_3'UTR|TCF19_ENST00000376255.4_Missense_Mutation_p.R271H	p.R271H	NM_007109.2	NP_009040.2	Q9Y242	TCF19_HUMAN			4	1566	+			271	Pro-rich.	A6NCT8|B0UY11|Q0EFA8|Q13176|Q15967|Q5SQ89|Q5STD6|Q5STF5|Q9BUM2|Q9UBH7	Missense_Mutation	SNP	ENST00000376257.3	37	c.812G>A	CCDS43446.1	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	G	11.65	1.700994	0.30142	.	.	ENSG00000137310	ENST00000376257;ENST00000376255	T;T	0.34667	1.35;1.35	3.21	2.22	0.28083	3.21	2.22	0.28083	Zinc finger, FYVE/PHD-type (1);	0.116892	0.64402	N	0.000017	T	0.12092	0.0294	L	0.31926	0.97	0.80722	D	1	B	0.16802	0.019	B	0.10450	0.005	T	0.06552	-1.0820	10	0.72032	D	0.01	-30.1324	7.3256	0.26553	0.156:0.0:0.844:0.0	.	271	Q9Y242	TCF19_HUMAN	H	271	ENSP00000365433:R271H;ENSP00000365431:R271H	ENSP00000365431:R271H	R	+	2	0	0	TCF19	31238247	31238247	0.721000	0.28007	0.894000	0.35097	0.580000	0.36256	1.730000	0.38125	0.564000	0.29238	0.549000	0.68633	CGT		0.607	TCF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076595.2		5.744766	-12	-12	70	70	NM_007109		5	12.222553	12.222553	39	0.113636	0	0	0	1	0	5	39	0.113636
AKAP13	11214	broad.mit.edu	37	15	86124462	86124462	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr15:86124462G>A	ENST00000394518.2	+	7	3258	c.3163G>A	c.(3163-3165)Gat>Aat	p.D1055N	RP11-815J21.2_ENST00000561409.1_RNA|AKAP13_ENST00000361243.2_Missense_Mutation_p.D1055N	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1055					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TGATGGGTCCGATGCTCTTAA	0.542																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2											0			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(3163-3165)Gat>Aat	A kinase (PRKA) anchor protein 13						76.0	72.0	73.0					15																	86124462		2202	4299	6501	SO:0001583	missense	11214			apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86124462G>A	M90360	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13		2013-01-10	2002-06-13			ENSG00000170776		ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	371	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604686	604686	"""lymphoid blast crisis oncogene"""	LBC	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	9627117, 1860836	Standard	Standard	NM_007200	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	uc002blu.2	Q12802	Q12802			ENST00000394518.2:c.3163G>A	15.37:g.86124462G>A	ENSP00000378026:p.Asp1055Asn		AKAP13_ENST00000361243.2_Missense_Mutation_p.D1055N	p.D1055N	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			7	3258	+			1055		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.3163G>A	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.066043	0.36470	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.12774	2.65;2.65	4.57	0.077	0.14406	4.57	0.077	0.14406	.	.	.	.	.	T	0.06826	0.0174	N	0.08118	0	0.09310	N	0.999996	B;B	0.15141	0.012;0.006	B;B	0.04013	0.0;0.001	T	0.34527	-0.9825	9	0.66056	D	0.02	.	7.8278	0.29326	0.0952:0.4783:0.4265:0.0	.	1055;1055	Q12802;Q12802-2	AKP13_HUMAN;.	N	1055;1055;1054;1054	ENSP00000354718:D1055N;ENSP00000378026:D1055N	ENSP00000354718:D1055N	D	+	1	0	0	AKAP13	83925466	83925466	0.004000	0.15560	0.019000	0.16419	0.097000	0.18754	1.251000	0.32862	0.146000	0.19002	0.655000	0.94253	GAT		0.542	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1		47.254501	-18	-18	63	63	NM_007200		17	49.182392	49.182392	39	0.303571	0	0	0	1	0	17	39	0.303571
OTUD4	54726	broad.mit.edu	37	4	146058662	146058662	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr4:146058662G>A	ENST00000447906.2	-	21	3452	c.3265C>T	c.(3265-3267)Cga>Tga	p.R1089*	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000454497.2_Nonsense_Mutation_p.R1024*			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	1089					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CTGACATTTCGATGGTACTGA	0.502																																						ENST00000454497.2											0			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(3070-3072)Cga>Tga	OTU domain containing 4						119.0	117.0	118.0					4																	146058662		2202	4286	6488	SO:0001587	stop_gained	54726					protein binding	g.chr4:146058662G>A			CCDS3764.1, CCDS47139.1	CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164	ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	"""OTU domain containing"""	24949	24949	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611744	611744	"""OTU domain containing 4"""		"""OTU domain containing 4"""			1475186, 12727813, 19996094	1475186, 12727813, 19996094	Standard	Standard	NM_001102653	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	uc003ika.4	Q01804	Q01804	OTTHUMG00000161480	OTTHUMG00000161480	ENST00000447906.2:c.3265C>T	4.37:g.146058662G>A	ENSP00000395487:p.Arg1089*		OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Nonsense_Mutation_p.R1089*	p.R1024*	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			21	3207	-	all_hematologic(180;0.151)		1088		B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Nonsense_Mutation	SNP	ENST00000447906.2	37	c.3070C>T		.	.	.	.	.	.	.	.	.	.	G	37	6.072272	0.97256	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	.	.	.	6.17	6.17	0.99709	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.4152	17.0623	0.86550	0.0:0.0:0.8725:0.1275	.	.	.	.	X	1024;1089	.	ENSP00000395487:R1089X	R	-	1	2	2	OTUD4	146278112	146278112	1.000000	0.71417	0.946000	0.38457	0.338000	0.28826	4.963000	0.63694	2.941000	0.99782	0.655000	0.94253	CGA		0.502	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2		45.306948	-33	-33	96	96	NM_017493		21	55.76106	55.761060	92	0.185841	0	0	0	1	0	21	92	0.185841
TOX3	27324	broad.mit.edu	37	16	52498045	52498045	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:52498045G>A	ENST00000219746.9	-	3	493	c.209C>T	c.(208-210)aCg>aTg	p.T70M	TOX3_ENST00000407228.3_Missense_Mutation_p.T65M	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	70					apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						TGGAGGAGGCGTGATTGGTGG	0.488																																						ENST00000219746.9											0			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						c.(208-210)aCg>aTg	TOX high mobility group box family member 3						135.0	150.0	145.0					16																	52498045		2082	4207	6289	SO:0001583	missense	27324			apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity	g.chr16:52498045G>A	U80736	U80736	CCDS54008.1, CCDS54009.1	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460		ENSG00000103460		"""Trinucleotide (CAG) repeat containing"""	"""Trinucleotide (CAG) repeat containing"""	11972	11972	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611416	611416	"""trinucleotide repeat containing 9"""	TNRC9	"""trinucleotide repeat containing 9"""	TNRC9		9225980	9225980	Standard	Standard	NM_001080430	NM_001080430		Approved	CAGF9	uc002egw.2	uc002egw.2	O15405	O15405			ENST00000219746.9:c.209C>T	16.37:g.52498045G>A	ENSP00000219746:p.Thr70Met		TOX3_ENST00000407228.3_Missense_Mutation_p.T65M	p.T70M	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN			3	493	-			70		B4DRD0|B5MCW4	Missense_Mutation	SNP	ENST00000219746.9	37	c.209C>T	CCDS54009.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.496926	0.64186	.	.	ENSG00000103460	ENST00000219746;ENST00000407228	T;T	0.44482	0.92;0.92	5.9	5.9	0.94986	5.9	5.9	0.94986	.	0.051178	0.85682	D	0.000000	T	0.68439	0.3001	M	0.78049	2.395	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.987	T	0.70015	-0.4988	10	0.87932	D	0	.	20.2822	0.98520	0.0:0.0:1.0:0.0	.	65;70	B4DRD0;O15405	.;TOX3_HUMAN	M	70;65	ENSP00000219746:T70M;ENSP00000385705:T65M	ENSP00000219746:T70M	T	-	2	0	0	TOX3	51055546	51055546	1.000000	0.71417	0.989000	0.46669	0.728000	0.41692	7.863000	0.87023	2.806000	0.96561	0.655000	0.94253	ACG		0.488	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000422534.1		51.098002	-8	-8	77	77	XM_049037		19	53.915398	53.915398	48	0.283582	0	0	0	1	0	19	48	0.283582
CCER1	196477	broad.mit.edu	37	12	91348368	91348368	+	Missense_Mutation	SNP	G	G	A	rs146867450		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:91348368G>A	ENST00000358859.2	-	1	585	c.152C>T	c.(151-153)cCg>cTg	p.P51L	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	51																	ATATCGGTGCGGTCTATTGTA	0.652																																						ENST00000358859.2											0										c.(151-153)cCg>cTg	coiled-coil glutamate-rich protein 1	G	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	35.0	35.0	35.0		152	4.0	0.0	12	dbSNP_134	35	0,8600		0,0,4300	no	missense	C12orf12	NM_152638.2	98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	51/407	91348368	1,13005	2203	4300	6503	SO:0001583	missense	196477						g.chr12:91348368G>A	BC024183	BC024183	CCDS9036.1	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651	ENSG00000197651	ENSG00000197651				28373	28373	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""chromosome 12 open reading frame 12"""	C12orf12	"""chromosome 12 open reading frame 12"""	C12orf12		17967063	17967063	Standard	Standard	NM_152638	NM_152638		Approved	MGC26598	uc001tbj.3	uc001tbj.3	Q8TC90	Q8TC90	OTTHUMG00000170070	OTTHUMG00000170070	ENST00000358859.2:c.152C>T	12.37:g.91348368G>A	ENSP00000351727:p.Pro51Leu		CCER1_ENST00000548187.1_Intron	p.P51L	NM_152638.2	NP_689851.1					1	585	-					Q8TC47	Missense_Mutation	SNP	ENST00000358859.2	37	c.152C>T	CCDS9036.1	.	.	.	.	.	.	.	.	.	.	G	4.690	0.128353	0.08981	2.27E-4	0.0	ENSG00000197651	ENST00000358859	T	0.37411	1.2	4.87	3.98	0.46160	4.87	3.98	0.46160	.	0.283059	0.19197	N	0.120278	T	0.17874	0.0429	N	0.08118	0	0.09310	N	1	B	0.29571	0.249	B	0.19148	0.024	T	0.11842	-1.0571	10	0.38643	T	0.18	-5.9456	11.1284	0.48333	0.0:0.8097:0.1903:0.0	.	51	Q8TC90	CL012_HUMAN	L	51	ENSP00000351727:P51L	ENSP00000351727:P51L	P	-	2	0	0	C12orf12	89872499	89872499	0.018000	0.18449	0.005000	0.12908	0.002000	0.02628	1.951000	0.40333	1.281000	0.44480	-0.539000	0.04255	CCG		0.652	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2		2.301166	2	2	27	27	NM_152638		3	7.352277	7.352277	28	0.096774	0	0	0	1	0	3	28	0.096774
CELSR1	9620	broad.mit.edu	37	22	46859996	46859996	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr22:46859996G>A	ENST00000262738.3	-	2	3790	c.3791C>T	c.(3790-3792)gCg>gTg	p.A1264V	CELSR1_ENST00000395964.1_Missense_Mutation_p.A1264V	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1264					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGGCAGCAGCGCCGAGAAGGT	0.632																																						ENST00000262738.3											0			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(3790-3792)gCg>gTg	cadherin, EGF LAG seven-pass G-type receptor 1						75.0	76.0	76.0					22																	46859996		2203	4300	6503	SO:0001583	missense	9620			central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46859996G>A	AF231024	AF231024	CCDS14076.1	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275	ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	1850	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	"""flamingo homolog 2 (Drosophila)"""	604523	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""		"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	9339365	Standard	Standard	XM_006724383	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	uc003bhw.1	Q9NYQ6	Q9NYQ6	OTTHUMG00000150423	OTTHUMG00000150423	ENST00000262738.3:c.3791C>T	22.37:g.46859996G>A	ENSP00000262738:p.Ala1264Val		CELSR1_ENST00000395964.1_Missense_Mutation_p.A1264V	p.A1264V	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	2	3790	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1264		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.3791C>T	CCDS14076.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.92|17.92	3.506505|3.506505	0.64410|0.64410	.|.	.|.	ENSG00000075275|ENSG00000075275	ENST00000262738;ENST00000395964|ENST00000454637	T;T|.	0.68765|.	-0.35;-0.09|.	4.85|4.85	4.85|4.85	0.62838|0.62838	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	0.000000|.	0.64402|.	U|.	0.000002|.	T|T	0.57080|0.57080	0.2029|0.2029	L|L	0.31207|0.31207	0.915|0.915	0.46336|0.46336	D|D	0.998996|0.998996	P|.	0.50156|.	0.932|.	P|.	0.45377|.	0.478|.	T|T	0.53704|0.53704	-0.8401|-0.8401	10|5	0.12766|.	T|.	0.61|.	.|.	17.5878|17.5878	0.87987|0.87987	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1264|.	Q9NYQ6|.	CELR1_HUMAN|.	V|C	1264|639	ENSP00000262738:A1264V;ENSP00000379293:A1264V|.	ENSP00000262738:A1264V|.	A|R	-|-	2|1	0|0	0|0	CELSR1|CELSR1	45238660|45238660	45238660|45238660	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.989000|0.989000	0.77384|0.77384	5.062000|5.062000	0.64326|0.64326	2.239000|2.239000	0.73571|0.73571	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.632	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1		0.629630	10	10	89	89	NM_014246		5	10.432978	10.432978	52	0.087719	0	0	0	1	0	5	52	0.087719
CHRM1	1128	broad.mit.edu	37	11	62678236	62678236	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:62678236C>T	ENST00000306960.3	-	2	878	c.337G>A	c.(337-339)Gtc>Atc	p.V113I	AP000438.2_ENST00000543624.1_RNA	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	113					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cognition (GO:0050890)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of ion transport (GO:0043270)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of locomotion (GO:0040012)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			large_intestine(5)|lung(3)|stomach(1)	9					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Benzatropine(DB00245)|Biperiden(DB00810)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbachol(DB00411)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clidinium(DB00771)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Doxylamine(DB00366)|Escitalopram(DB01175)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Flupentixol(DB00875)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Trospium(DB00209)|Ziprasidone(DB00246)	AGATTCATGACGGAGGCATTG	0.612																																						ENST00000306960.3											0			large_intestine(5)|lung(3)|stomach(1)	9						c.(337-339)Gtc>Atc	cholinergic receptor, muscarinic 1						63.0	58.0	59.0					11																	62678236		2201	4298	6499	SO:0001583	missense	1128			activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding	g.chr11:62678236C>T	Y00508	Y00508	CCDS8040.1	CCDS8040.1	11q12-q13	2012-08-08			2012-08-08				ENSG00000168539		ENSG00000168539		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1950	1950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 1"""	"""acetylcholine receptor, muscarinic 1"""	118510	118510								Standard	Standard	NM_000738	NM_000738		Approved		uc001nwi.3	uc001nwi.3	P11229	P11229			ENST00000306960.3:c.337G>A	11.37:g.62678236C>T	ENSP00000306490:p.Val113Ile		AP000438.2_ENST00000543624.1_RNA	p.V113I	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN			2	878	-			113		Q96RH1	Missense_Mutation	SNP	ENST00000306960.3	37	c.337G>A	CCDS8040.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016115	0.75161	.	.	ENSG00000168539	ENST00000306960;ENST00000543973;ENST00000536524	T;T;T	0.19806	2.12;2.12;2.12	4.57	4.57	0.56435	4.57	4.57	0.56435	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000068	T	0.21427	0.0516	N	0.05383	-0.06	0.47778	D	0.999516	D	0.55800	0.973	P	0.58721	0.844	T	0.11348	-1.0591	10	0.30078	T	0.28	-34.1641	14.8803	0.70528	0.0:1.0:0.0:0.0	.	113	P11229	ACM1_HUMAN	I	113	ENSP00000306490:V113I;ENSP00000441188:V113I;ENSP00000444482:V113I	ENSP00000306490:V113I	V	-	1	0	0	CHRM1	62434812	62434812	1.000000	0.71417	0.980000	0.43619	0.944000	0.59088	7.632000	0.83247	2.376000	0.81061	0.563000	0.77884	GTC		0.612	CHRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396178.1		5.213620	-13	-13	26	26	NM_000738		3	7.11058	7.110580	15	0.166667	0	0	0	1	0	3	15	0.166667
SERPINA3	12	broad.mit.edu	37	14	95080899	95080899	+	Nonsense_Mutation	SNP	C	C	T	rs373526796		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr14:95080899C>T	ENST00000467132.1	+	2	1269	c.121C>T	c.(121-123)Cga>Tga	p.R41*	SERPINA3_ENST00000393078.3_Nonsense_Mutation_p.R41*|RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000393080.4_Nonsense_Mutation_p.R41*			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	41					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		GAACCAAGACCGAGGGACACA	0.582																																						ENST00000467132.1											0			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40						c.(121-123)Cga>Tga	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	117.0	116.0	116.0		121	-3.0	0.0	14		116	0,8600		0,0,4300	no	stop-gained	SERPINA3	NM_001085.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		41/424	95080899	1,13005	2203	4300	6503	SO:0001587	stop_gained	12			acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	g.chr14:95080899C>T	K01500	K01500	CCDS32150.1	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136	ENSG00000196136	ENSG00000196136		"""Serine (or cysteine) peptidase inhibitors"""	"""Serine (or cysteine) peptidase inhibitors"""	16	16	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			107280	107280	"""alpha-1-antichymotrypsin"", ""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"""	AACT	"""alpha-1-antichymotrypsin"", ""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"""	AACT		3260956, 24172014	3260956, 24172014	Standard	Standard	NM_001085	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	uc001ydp.3	P01011	P01011	OTTHUMG00000029851	OTTHUMG00000029851	ENST00000467132.1:c.121C>T	14.37:g.95080899C>T	ENSP00000450540:p.Arg41*		RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000393078.3_Nonsense_Mutation_p.R41*|SERPINA3_ENST00000393080.4_Nonsense_Mutation_p.R41*	p.R41*			P01011	AACT_HUMAN		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)	2	1269	+		all_cancers(154;0.0525)|all_epithelial(191;0.179)	41		B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Nonsense_Mutation	SNP	ENST00000467132.1	37	c.121C>T	CCDS32150.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.680838	0.47886	2.27E-4	0.0	ENSG00000196136	ENST00000553947;ENST00000393078;ENST00000393080;ENST00000555820;ENST00000467132;ENST00000380354	.	.	.	4.42	-3.03	0.05429	4.42	-3.03	0.05429	.	3.988340	0.01188	N	0.007251	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.2621	0.02004	0.3193:0.2834:0.2676:0.1297	.	.	.	.	X	66;41;41;41;41;41	.	ENSP00000369712:R41X	R	+	1	2	2	SERPINA3	94150652	94150652	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.024000	0.12435	-0.120000	0.11809	-0.397000	0.06425	CGA		0.582	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268080.3		55.842433	6	6	87	87	NM_001085		18	56.235551	56.235551	27	0.400000	0	0	0	1	0	18	27	0.4
MAP7D2	256714	broad.mit.edu	37	X	20081643	20081643	+	Silent	SNP	G	G	A	rs184432892		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:20081643G>A	ENST00000379651.3	-	3	279	c.261C>T	c.(259-261)taC>taT	p.Y87Y	MAP7D2_ENST00000379643.5_Silent_p.Y87Y|MAP7D2_ENST00000443379.3_Silent_p.Y87Y|MAP7D2_ENST00000452324.3_Silent_p.Y43Y	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	87					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						TTTGCTTTTCGTACTGCAGCC	0.527													G|||	1	0.000264901	0.0	0.0	3775	,	,		16090	0.0		0.001	False		,,,				2504	0.0					ENST00000379651.3											0			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						c.(259-261)taC>taT	MAP7 domain containing 2	G	,,,	0,3835		0,0,1632,571	141.0	113.0	123.0		261,261,129,261	-0.6	1.0	X		123	2,6726		0,2,2426,1872	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MAP7D2	NM_001168465.1,NM_001168466.1,NM_001168467.1,NM_152780.3	,,,	0,2,4058,2443	AA,AG,GG,G		0.0297,0.0,0.0189	,,,	87/774,87/688,43/681,87/733	20081643	2,10561	2203	4300	6503	SO:0001819	synonymous_variant	256714						g.chrX:20081643G>A	BC089400	BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			2008-02-05			ENSG00000184368	ENSG00000184368	ENSG00000184368	ENSG00000184368				25899	25899	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12477932	12477932	Standard	Standard	NM_152780	NM_152780		Approved	FLJ14503	uc010nfo.2	uc010nfo.2	Q96T17	Q96T17	OTTHUMG00000021228	OTTHUMG00000021228	ENST00000379651.3:c.261C>T	X.37:g.20081643G>A			MAP7D2_ENST00000452324.3_Silent_p.Y43Y|MAP7D2_ENST00000379643.5_Silent_p.Y87Y|MAP7D2_ENST00000443379.3_Silent_p.Y87Y	p.Y87Y	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN			3	279	-			87		B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Silent	SNP	ENST00000379651.3	37	c.261C>T	CCDS14195.1	1	6.027727546714888E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.18	1.278199	0.23307	0.0	2.97E-4	ENSG00000184368	ENST00000544957	.	.	.	5.87	-0.59	0.11679	5.87	-0.59	0.11679	.	.	.	.	.	T	0.58148	0.2102	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53019	-0.8497	4	.	.	.	-13.6087	11.2743	0.49157	0.5151:0.0:0.4849:0.0	.	.	.	.	M	36	.	.	T	-	2	0	0	MAP7D2	19991564	19991564	0.638000	0.27225	0.996000	0.52242	0.989000	0.77384	-0.198000	0.09505	-0.262000	0.09392	0.594000	0.82650	ACG		0.527	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1		143.569263	-16	-16	129	129	NM_152780		45	143.650684	143.650684	51	0.468750	0	0	0	1	0	45	51	0.46875
ZNF423	23090	broad.mit.edu	37	16	49672258	49672258	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:49672258C>T	ENST00000561648.1	-	4	858	c.805G>A	c.(805-807)Gag>Aag	p.E269K	ZNF423_ENST00000562520.1_Missense_Mutation_p.E209K|ZNF423_ENST00000563137.2_Missense_Mutation_p.E209K|ZNF423_ENST00000262383.2_Missense_Mutation_p.E269K|ZNF423_ENST00000535559.1_Missense_Mutation_p.E152K|ZNF423_ENST00000562871.1_Missense_Mutation_p.E209K|ZNF423_ENST00000567169.1_Missense_Mutation_p.E152K	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	269					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				AAGGTGTCCTCGCAGTAGTCG	0.597																																						ENST00000561648.1											0			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89						c.(805-807)Gag>Aag	zinc finger protein 423						54.0	44.0	47.0					16																	49672258		2198	4300	6498	SO:0001583	missense	23090			cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49672258C>T	AB018303	AB018303	CCDS32445.1, CCDS61930.1	CCDS32445.1, CCDS61930.1	16q12	2014-01-28			2014-01-28				ENSG00000102935		ENSG00000102935		"""Zinc fingers, C2H2-type"""	"""Zinc fingers, C2H2-type"""	16762	16762	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557	604557						9872452, 10660046	9872452, 10660046	Standard	Standard	NM_001271620	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	uc031qwd.1	Q2M1K9	Q2M1K9			ENST00000561648.1:c.805G>A	16.37:g.49672258C>T	ENSP00000455426:p.Glu269Lys		ZNF423_ENST00000562871.1_Missense_Mutation_p.E209K|ZNF423_ENST00000562520.1_Missense_Mutation_p.E209K|ZNF423_ENST00000535559.1_Missense_Mutation_p.E152K|ZNF423_ENST00000567169.1_Missense_Mutation_p.E152K|ZNF423_ENST00000563137.2_Missense_Mutation_p.E209K|ZNF423_ENST00000262383.2_Missense_Mutation_p.E269K	p.E269K	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN			4	858	-		all_cancers(37;0.0155)	269		O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.805G>A	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.087678	0.76642	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.76578	-1.03;-1.03	5.0	5.0	0.66597	5.0	5.0	0.66597	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	D	0.85191	0.5640	L	0.50333	1.59	0.54753	D	0.999984	D	0.89917	1.0	D	0.91635	0.999	D	0.84312	0.0511	9	.	.	.	.	18.3069	0.90185	0.0:1.0:0.0:0.0	.	269	Q2M1K9	ZN423_HUMAN	K	269;152	ENSP00000262383:E269K;ENSP00000442321:E152K	.	E	-	1	0	0	ZNF423	48229759	48229759	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.818000	0.86416	2.331000	0.79229	0.561000	0.74099	GAG		0.597	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1		16.142004	-24	-24	24	24	NM_015069		6	16.856909	16.856909	14	0.300000	0	0	0	1	0	6	14	0.3
TRIO	7204	broad.mit.edu	37	5	14508349	14508349	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:14508349C>T	ENST00000344204.4	+	57	9136	c.9112C>T	c.(9112-9114)Cgt>Tgt	p.R3038C	TRIO_ENST00000344135.5_Missense_Mutation_p.R537C|TRIO_ENST00000537187.1_Missense_Mutation_p.R2862C	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	3038	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CCCCGCCAAGCGTCCCTCGGC	0.602																																						ENST00000344204.4											0			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(9112-9114)Cgt>Tgt	trio Rho guanine nucleotide exchange factor						50.0	55.0	53.0					5																	14508349		2203	4300	6503	SO:0001583	missense	7204			apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14508349C>T	AF091395	AF091395	CCDS3883.1	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382	ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	12303	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601893	601893	"""triple functional domain (PTPRF interacting)"""		"""triple functional domain (PTPRF interacting)"""			8643598	8643598	Standard	Standard	NM_007118	NM_007118		Approved	ARHGEF23	uc003jff.3	uc003jff.3	O75962	O75962	OTTHUMG00000131057	OTTHUMG00000131057	ENST00000344204.4:c.9112C>T	5.37:g.14508349C>T	ENSP00000339299:p.Arg3038Cys		TRIO_ENST00000537187.1_Missense_Mutation_p.R2862C|TRIO_ENST00000344135.5_Missense_Mutation_p.R537C	p.R3038C	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			57	9136	+	Lung NSC(4;0.000742)		3038	Protein kinase.	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.9112C>T	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.634843	0.67130	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000344135	T;T;T	0.80738	-1.41;-1.41;-1.41	5.72	4.84	0.62591	5.72	4.84	0.62591	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94486	0.8225	H	0.99545	4.62	0.43782	D	0.99631	D	0.89917	1.0	D	0.97110	1.0	D	0.96936	0.9684	10	0.87932	D	0	.	15.8619	0.79032	0.1368:0.8632:0.0:0.0	.	3038	O75962	TRIO_HUMAN	C	3038;2862;537	ENSP00000339299:R3038C;ENSP00000446348:R2862C;ENSP00000339291:R537C	ENSP00000339291:R537C	R	+	1	0	0	TRIO	14561349	14561349	1.000000	0.71417	0.631000	0.29282	0.996000	0.88848	3.163000	0.50763	1.366000	0.46076	0.650000	0.86243	CGT		0.602	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2		7.349508	-19	-19	62	62	NM_007118		5	12.361605	12.361605	33	0.131579	0	0	0	1	0	5	33	0.131579
AES	166	hgsc.bcm.edu	37	19	3061247	3061247	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:3061247C>T	ENST00000327141.4	-	2	392	c.36G>A	c.(34-36)tcG>tcA	p.S12S	AES_ENST00000592330.1_5'UTR|AES_ENST00000221561.8_Silent_p.S79S|AES_ENST00000586839.1_5'UTR	NM_001130.5|NM_198970.1	NP_001121.2|NP_945321.1	Q08117	AES_HUMAN	amino-terminal enhancer of split	12	Gln-rich (Q domain).				multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of gene expression (GO:0010629)|negative regulation of protein binding (GO:0032091)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|positive regulation of anoikis (GO:2000210)|response to interleukin-1 (GO:0070555)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			lung(8)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGTAGGTGCGAGGAGCCCT	0.667																																					Pancreas(11;265 407 11814 26840 35326)												0																	125.0	123.0	123.0					19																	3061247		2203	4300	6503	SO:0001819	synonymous_variant	166							AK094591	AK094591	CCDS12101.1, CCDS12102.1	CCDS12101.1, CCDS12102.1	19p13.3	2008-02-05			2008-02-05										307	307	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600188	600188						8365415	8365415	Standard	Standard	NM_001130	NM_001130		Approved	GRG5, TLE5	uc002lwx.1	uc002lwx.1	Q08117	Q08117			ENST00000327141.4:c.36G>A	19.37:g.3061247C>T																		B2RBL0|Q12808|Q14CJ1|Q96TG9|Q9UDY9	Silent	SNP	ENST00000327141.4	37		CCDS12102.1																																																																																									0.667	AES-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452154.1			20	20	133	133	NM_198969		12			69							12	69	
TRIM63	84676	broad.mit.edu	37	1	26386770	26386770	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:26386770C>T	ENST00000374272.3	-	4	722	c.584G>A	c.(583-585)cGt>cAt	p.R195H	TRIM63_ENST00000483052.1_5'Flank	NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN	tripartite motif containing 63, E3 ubiquitin protein ligase	195	Interaction with TTN.				cellular response to dexamethasone stimulus (GO:0071549)|muscle contraction (GO:0006936)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression (GO:0010468)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to interleukin-1 (GO:0070555)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|titin binding (GO:0031432)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		GGTCACTCGACGGGAATCCTC	0.572																																						ENST00000374272.3											0			kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5						c.(583-585)cGt>cAt	tripartite motif containing 63, E3 ubiquitin protein ligase						113.0	106.0	108.0					1																	26386770		2203	4300	6503	SO:0001583	missense	84676				cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding	g.chr1:26386770C>T	AF353673	AF353673	CCDS273.1	CCDS273.1	1p34-p33	2014-09-17	2012-02-23	2004-11-17	2014-09-17	2012-02-23	2004-11-17	ENSG00000158022	ENSG00000158022	ENSG00000158022	ENSG00000158022		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	16007	16007	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""muscle-specific RING finger protein 1"", ""iris ring finger protein"", ""striated muscle RING zinc finger protein"""	"""muscle-specific RING finger protein 1"", ""iris ring finger protein"", ""striated muscle RING zinc finger protein"""	606131	606131	"""ring finger protein 28"", ""tripartite motif-containing 63"", ""tripartite motif containing 63"""	RNF28	"""ring finger protein 28"", ""tripartite motif-containing 63"", ""tripartite motif containing 63"""	RNF28		11243782, 11283016	11243782, 11283016	Standard	Standard	NM_032588	NM_032588		Approved	MURF-1, IRF, SMRZ	uc001bli.2	uc001bli.2	Q969Q1	Q969Q1	OTTHUMG00000007510	OTTHUMG00000007510	ENST00000374272.3:c.584G>A	1.37:g.26386770C>T	ENSP00000363390:p.Arg195His			p.R195H	NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	4	722	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	195	Interaction with TTN.	B4DN95|Q5T2I1|Q96BD3|Q96KD9|Q9BYV4	Missense_Mutation	SNP	ENST00000374272.3	37	c.584G>A	CCDS273.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.228760	0.79576	.	.	ENSG00000158022	ENST00000374272	T	0.42900	0.96	5.21	5.21	0.72293	5.21	5.21	0.72293	.	0.128263	0.85682	D	0.000000	T	0.29620	0.0739	N	0.08118	0	0.35647	D	0.811443	P	0.50156	0.932	B	0.42522	0.39	T	0.48375	-0.9041	10	0.72032	D	0.01	.	18.7199	0.91689	0.0:1.0:0.0:0.0	.	195	Q969Q1	TRI63_HUMAN	H	195	ENSP00000363390:R195H	ENSP00000363390:R195H	R	-	2	0	0	TRIM63	26259357	26259357	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	7.717000	0.84732	2.574000	0.86865	0.462000	0.41574	CGT		0.572	TRIM63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019750.1		67.942848	15	15	79	79	NM_032588		22	68.152172	68.152172	29	0.431373	0	0	0	1	0	22	29	0.431373
FRMPD1	22844	broad.mit.edu	37	9	37746714	37746714	+	Missense_Mutation	SNP	C	C	T	rs138292555	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:37746714C>T	ENST00000539465.1	+	16	5278	c.4685C>T	c.(4684-4686)aCg>aTg	p.T1562M	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.T1562M			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1562						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		ACGGCCCTCACGGCCGCCGTG	0.592													C|||	5	0.000998403	0.0	0.0	5008	,	,		15176	0.0		0.0	False		,,,				2504	0.0051					ENST00000539465.1											0			NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(4684-4686)aCg>aTg	FERM and PDZ domain containing 1	C	MET/THR	0,4406		0,0,2203	93.0	98.0	97.0		4685	5.7	1.0	9	dbSNP_134	97	7,8589	5.0+/-18.6	0,7,4291	yes	missense	FRMPD1	NM_014907.2	81	0,7,6494	TT,TC,CC		0.0814,0.0,0.0538	probably-damaging	1562/1579	37746714	7,12995	2203	4298	6501	SO:0001583	missense	22844				cytoskeleton|cytosol|plasma membrane		g.chr9:37746714C>T	AB023184	AB023184	CCDS6612.1	CCDS6612.1	9p13.1	2008-02-05			2008-02-05			ENSG00000070601	ENSG00000070601	ENSG00000070601	ENSG00000070601				29159	29159	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										10231032	10231032	Standard	Standard	NM_014907	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	uc004aag.1	Q5SYB0	Q5SYB0	OTTHUMG00000019927	OTTHUMG00000019927	ENST00000539465.1:c.4685C>T	9.37:g.37746714C>T	ENSP00000444411:p.Thr1562Met		FRMPD1_ENST00000377765.3_Missense_Mutation_p.T1562M|RP11-613M10.9_ENST00000540557.1_Intron	p.T1562M			Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	16	5278	+			1562		B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	c.4685C>T	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.719469	0.89205	0.0	8.14E-4	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.12039	2.72;2.72	5.71	5.71	0.89125	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.35941	0.0949	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.01894	-1.1252	10	0.87932	D	0	-5.1585	17.3577	0.87341	0.0:1.0:0.0:0.0	.	1562	Q5SYB0	FRPD1_HUMAN	M	1562	ENSP00000366995:T1562M;ENSP00000444411:T1562M	ENSP00000366995:T1562M	T	+	2	0	0	FRMPD1	37736714	37736714	0.995000	0.38212	0.965000	0.40720	0.905000	0.53344	3.297000	0.51810	2.704000	0.92352	0.655000	0.94253	ACG		0.592	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1		-5.859878	-1	-1	142	142	NM_014907		7	15.118404	15.118404	100	0.065421	0	0	0	1	0	7	100	0.065421
TMEM132A	54972	broad.mit.edu	37	11	60702219	60702219	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:60702219G>A	ENST00000453848.2	+	9	1977	c.1819G>A	c.(1819-1821)Ggt>Agt	p.G607S	TMEM132A_ENST00000005286.4_Missense_Mutation_p.G608S			Q24JP5	T132A_HUMAN	transmembrane protein 132A	607						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CCGGGAGCCCGGTGTCACCTC	0.657																																						ENST00000005286.4											0			breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						c.(1822-1824)Ggt>Agt	transmembrane protein 132A						19.0	22.0	21.0					11																	60702219		2182	4264	6446	SO:0001583	missense	54972				endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:60702219G>A	AK000546	AK000546	CCDS7997.1, CCDS44618.1	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118	ENSG00000006118	ENSG00000006118				31092	31092	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1	"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	12514190, 10997877	Standard	Standard	NM_017870	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	uc001nqi.3	Q24JP5	Q24JP5	OTTHUMG00000167803	OTTHUMG00000167803	ENST00000453848.2:c.1819G>A	11.37:g.60702219G>A	ENSP00000405823:p.Gly607Ser		TMEM132A_ENST00000453848.2_Missense_Mutation_p.G607S	p.G608S	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN			9	1975	+			607		Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Missense_Mutation	SNP	ENST00000453848.2	37	c.1822G>A	CCDS44618.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.683263	0.68157	.	.	ENSG00000006118	ENST00000444690;ENST00000453848;ENST00000005286	T;T	0.35973	1.28;1.28	4.01	4.01	0.46588	4.01	4.01	0.46588	.	0.450845	0.21249	N	0.077675	T	0.61173	0.2326	M	0.74467	2.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.66885	-0.5810	10	0.87932	D	0	.	17.0352	0.86473	0.0:0.0:1.0:0.0	.	607;608	Q24JP5;Q24JP5-2	T132A_HUMAN;.	S	358;607;608	ENSP00000405823:G607S;ENSP00000005286:G608S	ENSP00000005286:G608S	G	+	1	0	0	TMEM132A	60458795	60458795	1.000000	0.71417	0.833000	0.33012	0.118000	0.20060	7.474000	0.81024	2.535000	0.85469	0.305000	0.20034	GGT		0.657	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1		6.012762	-10	-10	20	20	NM_017870		3	8.13298	8.132980	16	0.157895	0	0	0	1	0	3	16	0.157895
NOP10	55505	broad.mit.edu	37	15	34634230	34634230	+	Missense_Mutation	SNP	C	C	T	rs201604296		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr15:34634230C>T	ENST00000328848.4	-	2	237	c.134G>A	c.(133-135)cGa>cAa	p.R45Q	NUTM1_ENST00000537011.1_5'Flank|NOP10_ENST00000557912.1_Missense_Mutation_p.E26K|NUTM1_ENST00000438749.3_5'Flank	NM_018648.3	NP_061118.1	Q9NPE3	NOP10_HUMAN	NOP10 ribonucleoprotein	45					pseudouridine synthesis (GO:0001522)|rRNA processing (GO:0006364)	box H/ACA RNP complex (GO:0072588)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	snoRNA binding (GO:0030515)			lung(1)|ovary(1)	2						GATGGTGATTCGGTGTCGAGA	0.527																																						ENST00000328848.4											0			lung(1)|ovary(1)	2						c.(133-135)cGa>cAa	NOP10 ribonucleoprotein						175.0	133.0	147.0					15																	34634230		2201	4298	6499	SO:0001583	missense	55505			pseudouridine synthesis|rRNA processing	Cajal body|nucleolus|small nucleolar ribonucleoprotein complex	protein binding	g.chr15:34634230C>T	AB043103	AB043103	CCDS10037.1	CCDS10037.1	15q14-q15	2014-09-17	2012-12-10	2008-10-13	2014-09-17	2012-12-10	2008-10-13	ENSG00000182117	ENSG00000182117	ENSG00000182117	ENSG00000182117				14378	14378	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""homolog of yeast Nop10p"""	"""homolog of yeast Nop10p"""	606471	606471	"""nucleolar protein family A, member 3 (H/ACA small nucleolar RNPs)"", ""NOP10 ribonucleoprotein homolog (yeast)"""	NOLA3	"""nucleolar protein family A, member 3 (H/ACA small nucleolar RNPs)"", ""NOP10 ribonucleoprotein homolog (yeast)"""	NOLA3		11074001, 9843512	11074001, 9843512	Standard	Standard	NM_018648	NM_018648		Approved	NOP10P, MGC70651	uc001zie.1	uc001zie.1	Q9NPE3	Q9NPE3	OTTHUMG00000129440	OTTHUMG00000129440	ENST00000328848.4:c.134G>A	15.37:g.34634230C>T	ENSP00000332198:p.Arg45Gln		NOP10_ENST00000557912.1_Missense_Mutation_p.E26K	p.R45Q	NM_018648.3	NP_061118.1	Q9NPE3	NOP10_HUMAN			2	237	-			45			Missense_Mutation	SNP	ENST00000328848.4	37	c.134G>A	CCDS10037.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.611071	0.66558	.	.	ENSG00000182117	ENST00000328848	D	0.97378	-4.36	5.66	4.73	0.59995	5.66	4.73	0.59995	.	0.000000	0.85682	D	0.000000	D	0.96676	0.8915	.	.	.	0.23210	N	0.998114	D	0.55385	0.971	P	0.48795	0.59	D	0.92409	0.5936	9	0.87932	D	0	.	15.4066	0.74884	0.0:0.86:0.14:0.0	.	45	Q9NPE3	NOP10_HUMAN	Q	45	ENSP00000332198:R45Q	ENSP00000332198:R45Q	R	-	2	0	0	NOP10	32421522	32421522	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	6.606000	0.74159	1.351000	0.45789	0.655000	0.94253	CGA		0.527	NOP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251602.2		38.799488	-6	-6	42	42	NM_018648		12	38.808141	38.808141	13	0.480000	0	0	0	1	0	12	13	0.48
XPO7	23039	broad.mit.edu	37	8	21839354	21839354	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr8:21839354G>A	ENST00000252512.9	+	10	1170	c.1070G>A	c.(1069-1071)cGa>cAa	p.R357Q	XPO7_ENST00000433566.4_Missense_Mutation_p.R358Q|XPO7_ENST00000434536.1_Missense_Mutation_p.R366Q	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	357				Missing (in Ref. 3; BAA34465). {ECO:0000305}.	mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		GAGGTCATCCGATTGATAGCC	0.423																																						ENST00000434536.1											0			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1096-1098)cGa>cAa	exportin 7						168.0	157.0	160.0					8																	21839354		1871	4096	5967	SO:0001583	missense	23039			mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity	g.chr8:21839354G>A	AF064729	AF064729	CCDS47818.1	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227	ENSG00000130227	ENSG00000130227		"""Exportins"""	"""Exportins"""	14108	14108	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606140	606140	"""RAN binding protein 16"""	RANBP16	"""RAN binding protein 16"""	RANBP16		11024021, 9872452	11024021, 9872452	Standard	Standard	NM_015024	NM_015024		Approved	KIAA0745	uc003xaa.4	uc003xaa.4	Q9UIA9	Q9UIA9	OTTHUMG00000163789	OTTHUMG00000163789	ENST00000252512.9:c.1070G>A	8.37:g.21839354G>A	ENSP00000252512:p.Arg357Gln		XPO7_ENST00000252512.9_Missense_Mutation_p.R357Q|XPO7_ENST00000433566.4_Missense_Mutation_p.R358Q	p.R366Q			Q9UIA9	XPO7_HUMAN		Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)	10	1199	+			357		O94846|Q6PJK9|Q8NEK7	Missense_Mutation	SNP	ENST00000252512.9	37	c.1097G>A	CCDS47818.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.258638	0.39896	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	T;T;T	0.39787	1.06;1.06;1.06	5.69	5.69	0.88448	5.69	5.69	0.88448	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.19327	0.0464	N	0.02357	-0.585	0.80722	D	1	B;B;B	0.19935	0.04;0.02;0.02	B;B;B	0.09377	0.004;0.003;0.003	T	0.23297	-1.0192	10	0.02654	T	1	-6.8499	19.3926	0.94590	0.0:0.0:1.0:0.0	.	358;366;357	E7ESC6;E9PEN8;Q9UIA9	.;.;XPO7_HUMAN	Q	366;357;358	ENSP00000404853:R366Q;ENSP00000252512:R357Q;ENSP00000410249:R358Q	ENSP00000252512:R357Q	R	+	2	0	0	XPO7	21895300	21895300	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.671000	0.90904	0.655000	0.94253	CGA		0.423	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1		155.285897	3	3	139	139	NM_015024		48	155.288263	155.288263	49	0.494845	0	0	0	1	0	48	49	0.494845
MYO7A	4647	broad.mit.edu	37	11	76912671	76912671	+	Silent	SNP	G	G	A	rs558097664		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:76912671G>A	ENST00000409709.3	+	36	5303	c.5031G>A	c.(5029-5031)ccG>ccA	p.P1677P	MYO7A_ENST00000409619.2_Silent_p.P1628P|MYO7A_ENST00000458637.2_Silent_p.P1639P	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1677					actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCATGCCACCGCGGGAGATTG	0.587													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17703	0.0		0.0	False		,,,				2504	0.0					ENST00000409709.3											0			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(5029-5031)ccG>ccA	myosin VIIA						52.0	56.0	54.0					11																	76912671		2098	4209	6307	SO:0001819	synonymous_variant	4647			actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76912671G>A	U39226	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474	ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	7606	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			276903	276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	8884266	Standard	Standard	NM_000260	NM_000260		Approved	NSRD2	uc001oyb.2	uc001oyb.2	Q13402	Q13402	OTTHUMG00000152822	OTTHUMG00000152822	ENST00000409709.3:c.5031G>A	11.37:g.76912671G>A			MYO7A_ENST00000409619.2_Silent_p.P1628P|MYO7A_ENST00000458637.2_Silent_p.P1639P	p.P1677P	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			36	5303	+			1677		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Silent	SNP	ENST00000409709.3	37	c.5031G>A	CCDS53683.1																																																																																									0.587	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1		1.198693	-15	-15	35	35	NM_000260		3	7.026409	7.026409	31	0.088235	0	0	0	1	0	3	31	0.088235
BUB1	699	broad.mit.edu	37	2	111413371	111413371	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:111413371C>T	ENST00000302759.6	-	16	1939	c.1821G>A	c.(1819-1821)gcG>gcA	p.A607A	BUB1_ENST00000409311.1_Silent_p.A607A|BUB1_ENST00000535254.1_Silent_p.A587A	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	607					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		ATGGTGTAGACGCAAGTTGTG	0.458																																						ENST00000535254.1											0			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45						c.(1759-1761)gcG>gcA	BUB1 mitotic checkpoint serine/threonine kinase						235.0	214.0	222.0					2																	111413371		2203	4300	6503	SO:0001819	synonymous_variant	699			apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:111413371C>T	AF046078	AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679	ENSG00000169679	ENSG00000169679				1148	1148	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602452	602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L				Standard	Standard	NM_004336	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	uc002tgc.3	O43683	O43683	OTTHUMG00000153638	OTTHUMG00000153638	ENST00000302759.6:c.1821G>A	2.37:g.111413371C>T			BUB1_ENST00000409311.1_Silent_p.A607A|BUB1_ENST00000302759.6_Silent_p.A607A	p.A587A	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0556)	15	1828	-		Ovarian(717;0.0822)	607		E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Silent	SNP	ENST00000302759.6	37	c.1761G>A	CCDS33273.1																																																																																									0.458	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1		4.763951	27	27	145	145	NM_004336		10	23.066506	23.066506	99	0.091743	0	0	0	1	0	10	99	0.091743
CAMTA1	23261	broad.mit.edu	37	1	7731000	7731000	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:7731000G>A	ENST00000303635.7	+	10	2889	c.2682G>A	c.(2680-2682)ccG>ccA	p.P894P	CAMTA1_ENST00000439411.2_Silent_p.P894P	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	894	IPT/TIG.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TCACAGGCCCGTGGCAAGAAG	0.597			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7		Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.(2680-2682)ccG>ccA	calmodulin binding transcription activator 1						136.0	118.0	124.0					1																	7731000		2203	4300	6503	SO:0001819	synonymous_variant	23261			regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7731000G>A	AB020640	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			2008-07-18			ENSG00000171735	ENSG00000171735	ENSG00000171735	ENSG00000171735				18806	18806	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611501	611501						11925432	11925432	Standard	Standard	NM_001195563	NM_001195563		Approved	KIAA0833	uc001aoi.3	uc001aoi.3	Q9Y6Y1	Q9Y6Y1	OTTHUMG00000001212	OTTHUMG00000001212	ENST00000303635.7:c.2682G>A	1.37:g.7731000G>A			CAMTA1_ENST00000439411.2_Silent_p.P894P	p.P894P	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	10	2889	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	894	IPT/TIG.	A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Silent	SNP	ENST00000303635.7	37	c.2682G>A	CCDS30576.1																																																																																									0.597	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3		121.351265	-37	-37	94	94	NM_015215		38	121.399501	121.399501	34	0.527778	0	0	0	1	0	38	34	0.527778
SKOR1	390598	broad.mit.edu	37	15	68118635	68118635	+	Nonsense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr15:68118635C>T	ENST00000380035.2	+	2	527	c.469C>T	c.(469-471)Cga>Tga	p.R157*	SKOR1_ENST00000341418.5_Nonsense_Mutation_p.R343*|SKOR1_ENST00000389002.1_Nonsense_Mutation_p.R148*|SKOR1_ENST00000554054.1_Nonsense_Mutation_p.R129*|SKOR1_ENST00000554240.1_Nonsense_Mutation_p.R118*			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	157					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						GATCACTAAGCGAGAGGCCGA	0.657																																						ENST00000380035.2											0			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						c.(469-471)Cga>Tga	SKI family transcriptional corepressor 1						64.0	61.0	62.0					15																	68118635		2200	4298	6498	SO:0001587	stop_gained	390598			negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity	g.chr15:68118635C>T			CCDS58374.1	CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779	ENSG00000188779	ENSG00000188779		"""SKI transcriptional corepressors"""	"""SKI transcriptional corepressors"""	21326	21326	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""transcriptional corepressor CORL1"", ""functional smad suppressing element 15"", ""corepressor for LBX1"""	"""transcriptional corepressor CORL1"", ""functional smad suppressing element 15"", ""corepressor for LBX1"""	611273	611273	"""Lbxcor1 homolog (mouse)"""	LBXCOR1	"""Lbxcor1 homolog (mouse)"""	LBXCOR1		15528197	15528197	Standard	Standard	NM_001258024	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	uc031qsn.1	P84550	P84550			ENST00000380035.2:c.469C>T	15.37:g.68118635C>T	ENSP00000369374:p.Arg157*		SKOR1_ENST00000341418.5_Nonsense_Mutation_p.R343*|SKOR1_ENST00000554240.1_Nonsense_Mutation_p.R118*|SKOR1_ENST00000389002.1_Nonsense_Mutation_p.R148*|SKOR1_ENST00000554054.1_Nonsense_Mutation_p.R129*	p.R157*			P84550	SKOR1_HUMAN			2	527	+			157		A6NIP4|A6NJY0|Q2VWA5	Nonsense_Mutation	SNP	ENST00000380035.2	37	c.469C>T		.	.	.	.	.	.	.	.	.	.	C	36	5.885578	0.97068	.	.	ENSG00000188779	ENST00000341418;ENST00000554240;ENST00000554054;ENST00000380035;ENST00000389002	.	.	.	4.94	4.94	0.65067	4.94	4.94	0.65067	.	0.067585	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.4141	16.753	0.85492	0.0:1.0:0.0:0.0	.	.	.	.	X	343;118;129;157;148	.	ENSP00000343200:R343X	R	+	1	2	2	SKOR1	65905689	65905689	1.000000	0.71417	1.000000	0.80357	0.621000	0.37620	3.856000	0.55964	2.292000	0.77174	0.561000	0.74099	CGA		0.657	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000410832.1		-2.311038	3	3	64	64	NM_001031807		3	6.447592	6.447592	42	0.066667	0	0	0	1	0	3	42	0.066667
ELMOD2	255520	broad.mit.edu	37	4	141461345	141461345	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr4:141461345G>A	ENST00000323570.3	+	6	555	c.423G>A	c.(421-423)acG>acA	p.T141T		NM_153702.3	NP_714913.1	Q8IZ81	ELMD2_HUMAN	ELMO/CED-12 domain containing 2	141	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				defense response to virus (GO:0051607)|phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)|regulation of defense response to virus (GO:0050688)	cytoskeleton (GO:0005856)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7	all_hematologic(180;0.162)					TAATGCCCACGAAGAAGTTAA	0.368																																						ENST00000323570.3											0			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7						c.(421-423)acG>acA	ELMO/CED-12 domain containing 2						92.0	89.0	90.0					4																	141461345		2203	4300	6503	SO:0001819	synonymous_variant	255520			phagocytosis|regulation of defense response to virus|response to virus	cytoskeleton	GTPase activator activity	g.chr4:141461345G>A	BX648349	BX648349	CCDS3752.1	CCDS3752.1	4q31.1	2006-10-24	2006-01-20		2006-10-24	2006-01-20		ENSG00000179387	ENSG00000179387	ENSG00000179387	ENSG00000179387				28111	28111	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610196	610196	"""ELMO domain containing 2"""		"""ELMO domain containing 2"""			16773575	16773575	Standard	Standard	NM_153702	NM_153702		Approved	MGC10084	uc003iik.3	uc003iik.3	Q8IZ81	Q8IZ81	OTTHUMG00000133417	OTTHUMG00000133417	ENST00000323570.3:c.423G>A	4.37:g.141461345G>A				p.T141T	NM_153702.3	NP_714913.1	Q8IZ81	ELMD2_HUMAN			6	555	+	all_hematologic(180;0.162)		141	ELMO.	B2R712|D3DNZ0	Silent	SNP	ENST00000323570.3	37	c.423G>A	CCDS3752.1																																																																																									0.368	ELMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257277.2		2.972564	3	3	54	54	NM_153702		4	9.36423	9.364230	36	0.100000	0	0	0	1	0	4	36	0.1
OR1F1	4992	broad.mit.edu	37	16	3254391	3254391	+	Missense_Mutation	SNP	G	G	A	rs370564788		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:3254391G>A	ENST00000304646.2	+	1	145	c.145G>A	c.(145-147)Gta>Ata	p.V49I	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	49					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						CATCCTGTCCGTAAGCATAGA	0.557																																						ENST00000304646.2											0			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						c.(145-147)Gta>Ata	olfactory receptor, family 1, subfamily F, member 1	G	ILE/VAL	0,4394		0,0,2197	189.0	158.0	169.0		145	2.6	0.6	16		169	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR1F1	NM_012360.1	29	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	benign	49/313	3254391	1,12993	2197	4300	6497	SO:0001583	missense	4992			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr16:3254391G>A	Y14442	Y14442	CCDS10496.1	CCDS10496.1	16p13.3	2012-08-09			2012-08-09			ENSG00000168124	ENSG00000168124	ENSG00000168124	ENSG00000168124		"""GPCR / Class A : Olfactory receptors"""	"""GPCR / Class A : Olfactory receptors"""	8194	8194	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603232	603232		OR1F4, OR1F6, OR1F7, OR1F8, OR1F9, OR1F5, OR1F10, OR1F13P		OR1F4, OR1F6, OR1F7, OR1F8, OR1F9, OR1F5, OR1F10, OR1F13P		9288094, 9500546	9288094, 9500546	Standard	Standard	NM_012360	NM_012360		Approved	Olfmf, OR16-36, OR16-37, OR16-88, OR16-89, OR16-90, OLFMF, OR3-145	uc010uwu.2	uc010uwu.2	O43749	O43749	OTTHUMG00000133153	OTTHUMG00000133153	ENST00000304646.2:c.145G>A	16.37:g.3254391G>A	ENSP00000305424:p.Val49Ile		AJ003147.9_ENST00000576468.1_RNA	p.V49I	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN			1	145	+			49		O15246|Q6IFL5	Missense_Mutation	SNP	ENST00000304646.2	37	c.145G>A	CCDS10496.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.901211	0.00517	0.0	1.16E-4	ENSG00000168124	ENST00000304646	T	0.01422	4.91	4.97	2.58	0.30949	4.97	2.58	0.30949	GPCR, rhodopsin-like superfamily (1);	0.225949	0.30911	N	0.008635	T	0.00468	0.0015	N	0.00471	-1.455	0.24237	N	0.995376	B	0.06786	0.001	B	0.06405	0.002	T	0.47560	-0.9108	10	0.02654	T	1	.	7.3561	0.26719	0.7883:0.0:0.2117:0.0	.	49	O43749	OR1F1_HUMAN	I	49	ENSP00000305424:V49I	ENSP00000305424:V49I	V	+	1	0	0	OR1F1	3194392	3194392	0.003000	0.15002	0.639000	0.29394	0.007000	0.05969	0.205000	0.17356	0.252000	0.21531	0.393000	0.25936	GTA		0.557	OR1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206985.1		-5.374947	1	1	76	76			3	6.356911	6.356911	53	0.053571	0	0	0	1	0	3	53	0.053571
RADIL	55698	broad.mit.edu	37	7	4917629	4917629	+	Missense_Mutation	SNP	C	C	T	rs200059500		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:4917629C>T	ENST00000399583.3	-	2	329	c.142G>A	c.(142-144)Gcc>Acc	p.A48T	RADIL_ENST00000536091.1_Missense_Mutation_p.A48T	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	48					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		TCATCGCTGGCGCCCAGGCTG	0.627																																						ENST00000399583.3											0			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(142-144)Gcc>Acc	Ras association and DIL domains	C	THR/ALA	2,4034		0,2,2016	18.0	23.0	21.0		142	-0.8	0.0	7		21	0,8356		0,0,4178	yes	missense	RADIL	NM_018059.4	58	0,2,6194	TT,TC,CC		0.0,0.0496,0.0161	probably-damaging	48/1076	4917629	2,12390	2018	4178	6196	SO:0001583	missense	55698			cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4917629C>T	AB058752	AB058752	CCDS43544.1	CCDS43544.1	7p22.1	2010-08-27			2010-08-27			ENSG00000157927	ENSG00000157927	ENSG00000157927	ENSG00000157927				22226	22226	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611491	611491						16051602, 17704304	16051602, 17704304	Standard	Standard	NM_018059	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	uc003snj.1	Q96JH8	Q96JH8	OTTHUMG00000151753	OTTHUMG00000151753	ENST00000399583.3:c.142G>A	7.37:g.4917629C>T	ENSP00000382492:p.Ala48Thr		RADIL_ENST00000536091.1_Missense_Mutation_p.A48T	p.A48T	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	2	329	-		Ovarian(82;0.0175)	48		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	ENST00000399583.3	37	c.142G>A	CCDS43544.1	.	.	.	.	.	.	.	.	.	.	C	10.16	1.273693	0.23221	4.96E-4	0.0	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000536091;ENST00000457174	T;T	0.23552	3.31;1.9	5.73	-0.827	0.10802	5.73	-0.827	0.10802	.	0.354452	0.29321	N	0.012497	T	0.16171	0.0389	L	0.51422	1.61	0.09310	N	1	B	0.16396	0.017	B	0.08055	0.003	T	0.12993	-1.0526	10	0.36615	T	0.2	-11.0028	1.6686	0.02807	0.2315:0.45:0.1151:0.2033	.	48	Q96JH8	RADIL_HUMAN	T	48;22;48;48	ENSP00000382492:A48T;ENSP00000442533:A48T	ENSP00000320946:A22T	A	-	1	0	0	RADIL	4884155	4884155	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	-0.214000	0.09292	-0.180000	0.10637	-0.291000	0.09656	GCC		0.627	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2		15.474621	4	4	13	13	NM_018059		5	15.474621	15.474621	5	0.500000	0	0	0	1	0	5	5	0.5
KRT72	140807	broad.mit.edu	37	12	52984649	52984649	+	Missense_Mutation	SNP	G	G	A	rs201093386	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:52984649G>A	ENST00000537672.2	-	6	1070	c.1060C>T	c.(1060-1062)Cgc>Tgc	p.R354C	KRT72_ENST00000398066.3_Missense_Mutation_p.R166C|KRT72_ENST00000354310.4_Intron|KRT72_ENST00000293745.2_Missense_Mutation_p.R354C	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	354	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		ATCTCTGAGCGGATCCTCTGG	0.488													G|||	2	0.000399361	0.0008	0.0	5008	,	,		21710	0.0		0.0	False		,,,				2504	0.001					ENST00000293745.2											0			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36						c.(1060-1062)Cgc>Tgc	keratin 72						98.0	93.0	95.0					12																	52984649		2203	4300	6503	SO:0001583	missense	140807				keratin filament	structural molecule activity	g.chr12:52984649G>A	AY033495	AY033495	CCDS8833.1, CCDS53795.1	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			2013-06-25			ENSG00000170486	ENSG00000170486	ENSG00000170486	ENSG00000170486		"""-"", ""Intermediate filaments type II, keratins (basic)"""	"""-"", ""Intermediate filaments type II, keratins (basic)"""	28932	28932	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608246	608246						12648212, 11703281, 16831889	12648212, 11703281, 16831889	Standard	Standard	NM_080747	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	uc001saq.2	Q14CN4	Q14CN4	OTTHUMG00000169744	OTTHUMG00000169744	ENST00000537672.2:c.1060C>T	12.37:g.52984649G>A	ENSP00000441160:p.Arg354Cys		KRT72_ENST00000398066.3_Missense_Mutation_p.R166C|KRT72_ENST00000354310.4_Intron|KRT72_ENST00000537672.2_Missense_Mutation_p.R354C	p.R354C	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.195)	6	1145	-			354	Coil 2.|Rod.	B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Missense_Mutation	SNP	ENST00000537672.2	37	c.1060C>T	CCDS8833.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.670594	0.47781	.	.	ENSG00000170486	ENST00000537672;ENST00000293745;ENST00000398066	T;T;T	0.78003	-1.14;-1.14;-1.14	5.14	4.24	0.50183	5.14	4.24	0.50183	Filament (1);	0.435804	0.19457	N	0.113790	D	0.83013	0.5162	H	0.95402	3.665	0.37568	D	0.919335	B	0.33345	0.409	B	0.33196	0.159	D	0.86466	0.1782	10	0.72032	D	0.01	.	10.0993	0.42495	0.0:0.1314:0.6027:0.266	.	354	Q14CN4	K2C72_HUMAN	C	354;354;166	ENSP00000441160:R354C;ENSP00000293745:R354C;ENSP00000446151:R166C	ENSP00000293745:R354C	R	-	1	0	0	KRT72	51270916	51270916	0.012000	0.17670	1.000000	0.80357	0.870000	0.49936	1.773000	0.38563	1.480000	0.48289	-0.176000	0.13171	CGC		0.488	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1		4.810880	-12	-12	69	69	NM_080747		6	14.142933	14.142933	53	0.101695	0	0	0	1	0	6	53	0.101695
DMBX1	127343	broad.mit.edu	37	1	46976849	46976849	+	Silent	SNP	G	G	A	rs147071342		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:46976849G>A	ENST00000360032.3	+	3	590	c.576G>A	c.(574-576)ccG>ccA	p.P192P	DMBX1_ENST00000371956.4_Silent_p.P197P	NM_172225.1	NP_757379.1			diencephalon/mesencephalon homeobox 1											endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					AGGATCAGCCGGACCGTGAGG	0.677																																						ENST00000371956.4											0			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(589-591)ccG>ccA	diencephalon/mesencephalon homeobox 1	G	,	1,4403		0,1,2201	21.0	26.0	24.0		591,576	-9.7	0.0	1	dbSNP_134	24	0,8590		0,0,4295	no	coding-synonymous,coding-synonymous	DMBX1	NM_147192.2,NM_172225.1	,	0,1,6496	AA,AG,GG		0.0,0.0227,0.0077	,	197/383,192/378	46976849	1,12993	2202	4295	6497	SO:0001819	synonymous_variant	127343			brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:46976849G>A	AB037699	AB037699	CCDS536.1	CCDS536.1	1p34.1	2011-06-20	2004-03-29	2004-03-30	2011-06-20	2004-03-29	2004-03-30	ENSG00000197587	ENSG00000197587	ENSG00000197587	ENSG00000197587		"""Homeoboxes / PRD class"""	"""Homeoboxes / PRD class"""	19026	19026	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607410	607410	"""orthodenticle homolog 3 (Drosophila)"""	OTX3	"""orthodenticle homolog 3 (Drosophila)"""	OTX3				Standard	Standard	NM_147192	NM_147192		Approved	PAXB	uc001cpx.3	uc001cpx.3	Q8NFW5	Q8NFW5	OTTHUMG00000007982	OTTHUMG00000007982	ENST00000360032.3:c.576G>A	1.37:g.46976849G>A			DMBX1_ENST00000360032.3_Silent_p.P192P	p.P197P	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN			3	606	+	Acute lymphoblastic leukemia(166;0.155)		197			Silent	SNP	ENST00000360032.3	37	c.591G>A	CCDS536.1																																																																																									0.677	DMBX1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021895.1		11.796896	-6	-6	22	22			4	12.091656	12.091656	8	0.333333	0	0	0	1	0	4	8	0.333333
CBX2	84733	broad.mit.edu	37	17	77757864	77757864	+	Missense_Mutation	SNP	G	G	A	rs61738483		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:77757864G>A	ENST00000310942.4	+	5	726	c.622G>A	c.(622-624)Gtt>Att	p.V208I		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	208					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|development of primary sexual characteristics (GO:0045137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CAGCGCCCCCGTTGCAGGCCT	0.692																																						ENST00000310942.4											0			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16						c.(622-624)Gtt>Att	chromobox homolog 2						16.0	22.0	20.0					17																	77757864		2174	4276	6450	SO:0001583	missense	84733			cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding	g.chr17:77757864G>A	BC004252, BG354579	BC004252, BG354579	CCDS11764.1, CCDS32757.1	CCDS11764.1, CCDS32757.1	17q25.3	2010-07-06	2010-06-24		2010-07-06	2010-06-24		ENSG00000173894	ENSG00000173894	ENSG00000173894	ENSG00000173894				1552	1552	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""Pc class homolog (Drosophila)"""	"""Pc class homolog (Drosophila)"""	602770	602770	"""chromobox homolog 2 (Drosophila Pc class)"", ""cell division cycle associated 6"""	CDCA6	"""chromobox homolog 2 (Drosophila Pc class)"", ""cell division cycle associated 6"""	CDCA6		7782071, 2477932	7782071, 2477932	Standard	Standard	NM_005189	NM_005189		Approved	MGC10561	uc002jxc.3	uc002jxc.3	Q14781	Q14781			ENST00000310942.4:c.622G>A	17.37:g.77757864G>A	ENSP00000308750:p.Val208Ile			p.V208I	NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	726	+			208		Q0VDA5|Q9BTB1	Missense_Mutation	SNP	ENST00000310942.4	37	c.622G>A	CCDS32757.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	8.353	0.831312	0.16820	.	.	ENSG00000173894	ENST00000310942	.	.	.	5.47	5.47	0.80525	5.47	5.47	0.80525	.	1.394450	0.04612	N	0.400508	T	0.28830	0.0715	N	0.12182	0.205	0.80722	D	1	D	0.54772	0.968	B	0.31869	0.137	T	0.25984	-1.0116	9	0.22706	T	0.39	0.8498	13.2719	0.60165	0.0771:0.0:0.9229:0.0	.	208	Q14781	CBX2_HUMAN	I	208	.	ENSP00000308750:V208I	V	+	1	0	0	CBX2	75372459	75372459	0.999000	0.42202	0.978000	0.43139	0.268000	0.26511	3.532000	0.53553	2.577000	0.86979	0.655000	0.94253	GTT		0.692	CBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437040.1		16.397945	2	2	35	35	NM_032647		7	17.828745	17.828745	20	0.259259	0	0	0	1	0	7	20	0.259259
RET	5979	broad.mit.edu	37	10	43597982	43597982	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr10:43597982G>A	ENST00000355710.3	+	3	762	c.530G>A	c.(529-531)cGg>cAg	p.R177Q	RET_ENST00000340058.5_Missense_Mutation_p.R177Q	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	177	Cadherin. {ECO:0000255|PROSITE- ProRule:PRU00043}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	TTCCGCATTCGGGAGAACCGA	0.617		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"""E, O"""	0			NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(529-531)cGg>cAg	ret proto-oncogene						91.0	74.0	80.0					10																	43597982		2203	4300	6503	SO:0001583	missense	5979	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43597982G>A	BC004257	BC004257	CCDS7200.1, CCDS53525.1	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731	ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	"""Cadherins / Cadherin-related"""	9967	9967	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	"""cadherin-related family member 16"""	164761	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	2687772, 1611909	Standard	Standard	NM_020975	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	uc001jal.3	P07949	P07949	OTTHUMG00000018024	OTTHUMG00000018024	ENST00000355710.3:c.530G>A	10.37:g.43597982G>A	ENSP00000347942:p.Arg177Gln		RET_ENST00000340058.5_Missense_Mutation_p.R177Q	p.R177Q	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			3	762	+		Ovarian(717;0.0423)	177	Cadherin.	A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.530G>A	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633549	0.67015	.	.	ENSG00000165731	ENST00000355710;ENST00000340058;ENST00000535749	T;T	0.52295	0.67;0.67	5.09	2.09	0.27110	5.09	2.09	0.27110	Cadherin (3);Cadherin-like (1);	0.255981	0.37669	N	0.001990	T	0.46889	0.1416	L	0.47716	1.5	0.21473	N	0.999677	D;D	0.63880	0.993;0.991	P;P	0.59288	0.855;0.774	T	0.24261	-1.0165	10	0.27082	T	0.32	.	3.1191	0.06385	0.2841:0.0:0.5116:0.2043	.	177;177	P07949;P07949-2	RET_HUMAN;.	Q	177	ENSP00000347942:R177Q;ENSP00000344798:R177Q	ENSP00000344798:R177Q	R	+	2	0	0	RET	42917988	42917988	0.971000	0.33674	0.200000	0.23457	0.955000	0.61496	2.823000	0.48081	1.076000	0.40961	0.655000	0.94253	CGG		0.617	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2		6.077642	4	4	41	41	NM_020975		4	10.473592	10.473592	28	0.125000	0	0	0	1	0	4	28	0.125
SYT11	23208	broad.mit.edu	37	1	155838012	155838012	+	Silent	SNP	C	C	T	rs73002934	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:155838012C>T	ENST00000368324.4	+	2	544	c.291C>T	c.(289-291)gaC>gaT	p.D97D	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	97					negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			TGTTGGTGGACGCAGCAGAGG	0.517													C|||	8	0.00159744	0.0053	0.0	5008	,	,		19087	0.0		0.001	False		,,,				2504	0.0					ENST00000368324.4											0			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(289-291)gaC>gaT	synaptotagmin XI	C		26,4380	34.3+/-65.2	0,26,2177	114.0	107.0	109.0		291	-11.3	0.0	1	dbSNP_130	109	0,8600		0,0,4300	no	coding-synonymous	SYT11	NM_152280.4		0,26,6477	TT,TC,CC		0.0,0.5901,0.1999		97/432	155838012	26,12980	2203	4300	6503	SO:0001819	synonymous_variant	23208				cell junction|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:155838012C>T	D38522	D38522	CCDS1122.1	CCDS1122.1	1q22	2013-01-21			2013-01-21			ENSG00000132718	ENSG00000132718	ENSG00000132718	ENSG00000132718		"""Synaptotagmins"""	"""Synaptotagmins"""	19239	19239	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608741	608741						11543631	11543631	Standard	Standard	NM_152280	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	uc001fmg.3	Q9BT88	Q9BT88	OTTHUMG00000014105	OTTHUMG00000014105	ENST00000368324.4:c.291C>T	1.37:g.155838012C>T			SYT11_ENST00000539162.1_Intron	p.D97D	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.000162)		2	544	+	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		97		Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Silent	SNP	ENST00000368324.4	37	c.291C>T	CCDS1122.1																																																																																									0.517	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039597.1		83.619337	-14	-14	75	75	NM_152280		27	83.749749	83.749749	33	0.450000	0	0	0	1	0	27	33	0.45
SLC16A2	6567	broad.mit.edu	37	X	73751218	73751218	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:73751218G>A	ENST00000587091.1	+	6	1627	c.1450G>A	c.(1450-1452)Ggt>Agt	p.G484S	SLC16A2_ENST00000276033.5_Missense_Mutation_p.G558S	NM_006517.4	NP_006508.2	P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	484					monocarboxylic acid transport (GO:0015718)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)|transporter activity (GO:0005215)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					L-Leucine(DB00149)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|Levothyroxine(DB00451)|Liotrix(DB01583)|Pyruvic acid(DB00119)	CTACTTTGCCGGTGTGCCCCC	0.502																																						ENST00000276033.5											0			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21						c.(1672-1674)Ggt>Agt	solute carrier family 16, member 2 (thyroid hormone transporter)						117.0	94.0	101.0					X																	73751218		2203	4300	6503	SO:0001583	missense	6567				integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chrX:73751218G>A			CCDS14426.1, CCDS14426.2	CCDS14426.1, CCDS14426.2	Xq13.2	2013-05-22	2012-03-20		2013-05-22	2012-03-20		ENSG00000147100	ENSG00000147100	ENSG00000147100	ENSG00000147100		"""Solute carriers"""	"""Solute carriers"""	10923	10923	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300095	300095	"""solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)"", ""Allan-Herndon-Dudley syndrome"", ""solute carrier family 16 (monocarboxylic acid transporters), member 2"", ""mental retardation, X-linked 22"", ""solute carrier family 16, member 2 (monocarboxylic acid transporter 8)"""	DXS128, AHDS, MRX22	"""solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)"", ""Allan-Herndon-Dudley syndrome"", ""solute carrier family 16 (monocarboxylic acid transporters), member 2"", ""mental retardation, X-linked 22"", ""solute carrier family 16, member 2 (monocarboxylic acid transporter 8)"""	DXS128, AHDS, MRX22		7981683, 12871948, 15889350	7981683, 12871948, 15889350	Standard	Standard	NM_006517	NM_006517		Approved	XPCT, MCT8, MCT7	uc031tjy.1	uc031tjy.1	P36021	P36021	OTTHUMG00000021857	OTTHUMG00000021857	ENST00000587091.1:c.1450G>A	X.37:g.73751218G>A	ENSP00000465734:p.Gly484Ser		SLC16A2_ENST00000587091.1_Missense_Mutation_p.G484S	p.G558S			P36021	MOT8_HUMAN			6	1838	+			484		Q7Z797	Missense_Mutation	SNP	ENST00000587091.1	37	c.1672G>A	CCDS14426.2	.	.	.	.	.	.	.	.	.	.	G	27.4	4.826924	0.90955	.	.	ENSG00000147100	ENST00000276033	T	0.54279	0.58	5.3	5.3	0.74995	5.3	5.3	0.74995	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.74512	0.3726	M	0.80183	2.485	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	T	0.79017	-0.1975	10	0.87932	D	0	.	18.0979	0.89497	0.0:0.0:1.0:0.0	.	484	P36021	MOT8_HUMAN	S	558	ENSP00000276033:G558S	ENSP00000276033:G558S	G	+	1	0	0	SLC16A2	73667943	73667943	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	9.476000	0.97823	2.210000	0.71456	0.529000	0.55759	GGT		0.502	SLC16A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057266.3		88.026401	-16	-16	60	60			27	88.030522	88.030522	26	0.509434	0	0	0	1	0	27	26	0.509434
TCIRG1	10312	broad.mit.edu	37	11	67812527	67812527	+	Missense_Mutation	SNP	G	G	A	rs200415611		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:67812527G>A	ENST00000265686.3	+	10	1231	c.1123G>A	c.(1123-1125)Gtg>Atg	p.V375M	TCIRG1_ENST00000532635.1_Missense_Mutation_p.V159M	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	375					ATP hydrolysis coupled proton transport (GO:0015991)|cellular defense response (GO:0006968)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of cell proliferation (GO:0008284)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						CCAGGGCATCGTGGATGCCTA	0.682													G|||	1	0.000199681	0.0	0.0	5008	,	,		19252	0.0		0.001	False		,,,				2504	0.0					ENST00000265686.3											0			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						c.(1123-1125)Gtg>Atg	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3						90.0	78.0	82.0					11																	67812527		2200	4294	6494	SO:0001583	missense	10312			ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity	g.chr11:67812527G>A	AF025374	AF025374	CCDS8177.1, CCDS53670.1	CCDS8177.1, CCDS53670.1	11q13.2	2014-09-17	2006-01-20		2014-09-17	2006-01-20		ENSG00000110719	ENSG00000110719	ENSG00000110719	ENSG00000110719		"""ATPases / V-type"""	"""ATPases / V-type"""	11647	11647	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""T-cell immune response cDNA 7"""	"""T-cell immune response cDNA 7"""	604592	604592	"""T-cell, immune regulator 1"", ""T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3"", ""T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3"""		"""T-cell, immune regulator 1"", ""T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3"", ""T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3"""			8579597, 9806637	8579597, 9806637	Standard	Standard	NM_006019	NM_006019		Approved	TIRC7, OC-116, OC116, ATP6N1C, Atp6i, a3, ATP6V0A3	uc001one.3	uc001one.3	Q13488	Q13488	OTTHUMG00000167358	OTTHUMG00000167358	ENST00000265686.3:c.1123G>A	11.37:g.67812527G>A	ENSP00000265686:p.Val375Met		TCIRG1_ENST00000532635.1_Missense_Mutation_p.V159M	p.V375M	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN			10	1231	+			375		O75877|Q8WVC5	Missense_Mutation	SNP	ENST00000265686.3	37	c.1123G>A	CCDS8177.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	28.5	4.922226	0.92319	.	.	ENSG00000110719	ENST00000265686;ENST00000532635	D;D	0.88509	-2.39;-2.39	4.07	4.07	0.47477	4.07	4.07	0.47477	.	0.000000	0.85682	D	0.000000	D	0.95149	0.8428	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96149	0.9106	10	0.87932	D	0	-36.4798	15.0171	0.71594	0.0:0.0:1.0:0.0	.	375	Q13488	VPP3_HUMAN	M	375;159	ENSP00000265686:V375M;ENSP00000434407:V159M	ENSP00000265686:V375M	V	+	1	0	0	TCIRG1	67569103	67569103	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	9.420000	0.97426	2.119000	0.64992	0.462000	0.41574	GTG		0.682	TCIRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394305.1		16.272156	-3	-3	64	64	NM_006019		8	20.888515	20.888515	38	0.173913	0	0	0	1	0	8	38	0.173913
MAP2	4133	broad.mit.edu	37	2	210559486	210559486	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:210559486C>T	ENST00000360351.4	+	7	3098	c.2592C>T	c.(2590-2592)ctC>ctT	p.L864L	MAP2_ENST00000447185.1_Silent_p.L860L|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	864					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	ACAGTCAGCTCGAAGACCTGG	0.473																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4											0			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(2590-2592)ctC>ctT	microtubule-associated protein 2						83.0	74.0	77.0					2																	210559486		2203	4300	6503	SO:0001819	synonymous_variant	4133			central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210559486C>T			CCDS2384.1, CCDS2385.1, CCDS33369.1	CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			2008-05-27			ENSG00000078018	ENSG00000078018	ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	"""A-kinase anchor proteins"""	6839	6839	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			157130	157130						3103857, 7479905	3103857, 7479905	Standard	Standard	XM_005246554	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	uc002vde.1	P11137	P11137	OTTHUMG00000132962	OTTHUMG00000132962	ENST00000360351.4:c.2592C>T	2.37:g.210559486C>T			MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Silent_p.L860L|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron	p.L864L	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	3098	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	864		Q17S04|Q8IUX2|Q99975|Q99976	Silent	SNP	ENST00000360351.4	37	c.2592C>T	CCDS2384.1																																																																																									0.473	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2		-1.141521	14	14	53	53	NM_001039538		4	8.131172	8.131172	47	0.078431	0	0	0	1	0	4	47	0.078431
SYPL2	284612	broad.mit.edu	37	1	110022032	110022032	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:110022032C>T	ENST00000369872.3	+	6	897	c.681C>T	c.(679-681)gcC>gcT	p.A227A	SYPL2_ENST00000401021.3_Silent_p.A163A	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	227	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cellular calcium ion homeostasis (GO:0006874)|substantia nigra development (GO:0021762)	integral component of synaptic vesicle membrane (GO:0030285)	transporter activity (GO:0005215)	p.A227A(1)		breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		TCCTGTGGGCCGGGAACTGTT	0.582																																						ENST00000369872.3											1	Substitution - coding silent(1)	lung(1)	breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16						c.(679-681)gcC>gcT	synaptophysin-like 2						141.0	145.0	144.0					1																	110022032		1911	4147	6058	SO:0001819	synonymous_variant	284612				integral to membrane|synaptic vesicle	transporter activity	g.chr1:110022032C>T	AK131459	AK131459	CCDS41365.1	CCDS41365.1	1p13.3	2008-02-05			2008-02-05			ENSG00000143028	ENSG00000143028	ENSG00000143028	ENSG00000143028				27638	27638	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""mitsugumin-29"""	"""mitsugumin-29"""								12975309	12975309	Standard	Standard	NM_001040709	NM_001040709		Approved	Mg29	uc001dxp.3	uc001dxp.3	Q5VXT5	Q5VXT5	OTTHUMG00000010969	OTTHUMG00000010969	ENST00000369872.3:c.681C>T	1.37:g.110022032C>T			SYPL2_ENST00000401021.3_Silent_p.A163A	p.A227A	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)	6	897	+		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	227	MARVEL.	A8K0E8|A8KAL7|I0IT67|Q6ZMX1	Silent	SNP	ENST00000369872.3	37	c.681C>T	CCDS41365.1																																																																																									0.582	SYPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030191.1		-11.474393	-9	-9	117	117	NM_001006603		4	8.227092	8.227092	85	0.044944	0	0	0	1	0	4	85	0.044944
TLE3	7090	broad.mit.edu	37	15	70347577	70347577	+	Silent	SNP	G	G	A	rs201049660	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr15:70347577G>A	ENST00000558939.1	-	15	2775	c.1398C>T	c.(1396-1398)gaC>gaT	p.D466D	TLE3_ENST00000451782.2_Silent_p.D463D|TLE3_ENST00000557907.1_Silent_p.D458D|TLE3_ENST00000317509.8_Silent_p.D454D|TLE3_ENST00000559048.1_Silent_p.D466D|TLE3_ENST00000558201.1_Silent_p.D472D|TLE3_ENST00000557997.1_Silent_p.D458D|TLE3_ENST00000539550.1_Silent_p.D393D|TLE3_ENST00000560939.1_Silent_p.D468D|TLE3_ENST00000440567.3_Silent_p.D456D|TLE3_ENST00000560589.1_Silent_p.D410D|TLE3_ENST00000559191.1_Silent_p.D47D|TLE3_ENST00000442299.2_Silent_p.D458D|TLE3_ENST00000558379.1_Silent_p.D461D|TLE3_ENST00000559929.1_Silent_p.D476D	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3	466					Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.D466D(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTGCCAGGGCGTCGTGGGGGA	0.647													G|||	4	0.000798722	0.0	0.0	5008	,	,		18116	0.004		0.0	False		,,,				2504	0.0					ENST00000558939.1											1	Substitution - coding silent(1)	endometrium(1)	breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1396-1398)gaC>gaT	transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)						54.0	62.0	59.0					15																	70347577		2199	4298	6497	SO:0001819	synonymous_variant	7090			organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding	g.chr15:70347577G>A	M99438	M99438	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	15q22	2014-03-07	2014-03-07		2014-03-07	2014-03-07			ENSG00000140332		ENSG00000140332		"""WD repeat domain containing"""	"""WD repeat domain containing"""	11839	11839	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600190	600190	"""transducin-like enhancer of split 3, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)"""		"""transducin-like enhancer of split 3, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)"""			8365415	8365415	Standard	Standard	XM_005254623	XM_005254623		Approved	ESG, ESG3, KIAA1547, HsT18976, GRG3	uc002asm.2	uc002asm.2	Q04726	Q04726			ENST00000558939.1:c.1398C>T	15.37:g.70347577G>A			TLE3_ENST00000558201.1_Silent_p.D472D|TLE3_ENST00000559929.1_Silent_p.D476D|TLE3_ENST00000559048.1_Silent_p.D466D|TLE3_ENST00000539550.1_Silent_p.D393D|TLE3_ENST00000451782.2_Silent_p.D463D|TLE3_ENST00000559191.1_Silent_p.D47D|TLE3_ENST00000560589.1_Silent_p.D410D|TLE3_ENST00000557997.1_Silent_p.D458D|TLE3_ENST00000317509.8_Silent_p.D454D|TLE3_ENST00000560939.1_Silent_p.D468D|TLE3_ENST00000442299.2_Silent_p.D458D|TLE3_ENST00000440567.3_Silent_p.D456D|TLE3_ENST00000558379.1_Silent_p.D461D|TLE3_ENST00000557907.1_Silent_p.D458D	p.D466D	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN			15	2775	-			466		B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Silent	SNP	ENST00000558939.1	37	c.1398C>T	CCDS45293.1																																																																																									0.647	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416913.1		68.097949	-7	-7	78	78	NM_005078		23	68.139413	68.139413	26	0.469388	0	0	0	1	0	23	26	0.469388
UBE2J2	118424	broad.mit.edu	37	1	1190771	1190771	+	Missense_Mutation	SNP	C	C	T	rs146586696		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:1190771C>T	ENST00000349431.6	-	7	811	c.592G>A	c.(592-594)Gtc>Atc	p.V198I	UBE2J2_ENST00000400929.2_Missense_Mutation_p.V146I|UBE2J2_ENST00000491779.1_5'Flank|UBE2J2_ENST00000348298.7_Missense_Mutation_p.V146I|UBE2J2_ENST00000347370.2_Missense_Mutation_p.V146I|UBE2J2_ENST00000360466.2_Missense_Mutation_p.V198I|UBE2J2_ENST00000339385.6_Missense_Mutation_p.V163I|UBE2J2_ENST00000400930.4_Missense_Mutation_p.V214I	NM_058167.2	NP_477515.2	Q8N2K1	UB2J2_HUMAN	ubiquitin-conjugating enzyme E2, J2	198					protein ubiquitination (GO:0016567)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		CCGTTCTGGACGAGGTGCGTC	0.607																																						ENST00000347370.2											0			cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13						c.(436-438)Gtc>Atc	ubiquitin-conjugating enzyme E2, J2	C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	106.0	116.0	112.0		592,640,436,436	5.1	0.8	1	dbSNP_134	112	0,8600		0,0,4300	no	missense,missense,missense,missense	UBE2J2	NM_058167.2,NM_194315.1,NM_194457.1,NM_194458.1	29,29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign	198/260,214/276,146/208,146/208	1190771	1,13005	2203	4300	6503	SO:0001583	missense	118424			response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity	g.chr1:1190771C>T	AF296658	AF296658	CCDS14.1, CCDS15.1, CCDS16.1	CCDS14.1, CCDS15.1, CCDS16.1	1p36.33	2011-05-19	2011-05-19		2011-05-19	2011-05-19		ENSG00000160087	ENSG00000160087	ENSG00000160087	ENSG00000160087		"""Ubiquitin-conjugating enzymes E2"""	"""Ubiquitin-conjugating enzymes E2"""	19268	19268	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""ubiquitin-conjugating enzyme E2, J2 (UBC6 homolog, yeast)"""		"""ubiquitin-conjugating enzyme E2, J2 (UBC6 homolog, yeast)"""			11278356	11278356	Standard	Standard	NM_058167	NM_058167		Approved	Ubc6p, NCUBE2	uc001ado.3	uc001ado.3	Q8N2K1	Q8N2K1	OTTHUMG00000001911	OTTHUMG00000001911	ENST00000349431.6:c.592G>A	1.37:g.1190771C>T	ENSP00000305826:p.Val198Ile		UBE2J2_ENST00000339385.6_Missense_Mutation_p.V163I|UBE2J2_ENST00000400929.2_Missense_Mutation_p.V146I|UBE2J2_ENST00000349431.6_Missense_Mutation_p.V198I|UBE2J2_ENST00000348298.7_Missense_Mutation_p.V146I|UBE2J2_ENST00000360466.2_Missense_Mutation_p.V198I|UBE2J2_ENST00000400930.4_Missense_Mutation_p.V214I	p.V146I	NM_194458.1	NP_919440.1	Q8N2K1	UB2J2_HUMAN		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)	7	909	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	198		A8MYC7|Q504T9|Q96N26|Q96T84	Missense_Mutation	SNP	ENST00000349431.6	37	c.436G>A	CCDS14.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.560431	0.27827	2.27E-4	0.0	ENSG00000160087	ENST00000347370;ENST00000349431;ENST00000339385;ENST00000348298;ENST00000400929;ENST00000360466;ENST00000400930	T;T;T;T;T;T;T	0.71934	0.98;-0.02;0.98;0.98;0.98;-0.02;-0.61	5.96	5.05	0.67936	5.96	5.05	0.67936	.	0.141042	0.64402	D	0.000005	T	0.45518	0.1346	N	0.08118	0	0.26837	N	0.968469	B;B;B;P	0.40282	0.059;0.009;0.036;0.711	B;B;B;B	0.26094	0.009;0.002;0.003;0.066	T	0.40136	-0.9579	10	0.35671	T	0.21	-4.811	14.2428	0.65969	0.0:0.9288:0.0:0.0712	.	146;214;198;231	A6NGS0;A8MYC7;Q8N2K1;B1AME9	.;.;UB2J2_HUMAN;.	I	146;198;163;146;146;198;214	ENSP00000344857:V146I;ENSP00000305826:V198I;ENSP00000340197:V163I;ENSP00000342541:V146I;ENSP00000383718:V146I;ENSP00000353653:V198I;ENSP00000383719:V214I	ENSP00000340197:V163I	V	-	1	0	0	UBE2J2	1180634	1180634	1.000000	0.71417	0.795000	0.32087	0.002000	0.02628	5.720000	0.68470	1.539000	0.49286	-0.136000	0.14681	GTC		0.607	UBE2J2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000005430.1		22.352952	-30	-30	89	89	NM_058167		12	30.161603	30.161603	61	0.164384	0	0	0	1	0	12	61	0.164384
MRVI1	10335	broad.mit.edu	37	11	10648057	10648057	+	Missense_Mutation	SNP	C	C	T	rs565811419		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:10648057C>T	ENST00000436272.1	-	8	821	c.743G>A	c.(742-744)cGt>cAt	p.R248H	MRVI1_ENST00000541483.1_Intron|MRVI1_ENST00000421747.1_Missense_Mutation_p.R266H|MRVI1_ENST00000531107.1_Missense_Mutation_p.R267H|MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000547195.1_Missense_Mutation_p.R184H|MRVI1_ENST00000527509.2_Missense_Mutation_p.R184H|MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000423302.2_Missense_Mutation_p.R275H|MRVI1_ENST00000552103.1_Missense_Mutation_p.R184H			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	248					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TGGAGGAGGACGAGGAGCCAG	0.522																																						ENST00000547195.1											0			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22						c.(550-552)cGt>cAt	murine retrovirus integration site 1 homolog						67.0	73.0	71.0					11																	10648057		1963	4154	6117	SO:0001583	missense	10335			platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum		g.chr11:10648057C>T	AF081249	AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			2014-09-11			ENSG00000072952	ENSG00000072952	ENSG00000072952	ENSG00000072952				7237	7237	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""inositol 1,4,5-triphosphate-associated cGMP kinase substrate"", ""IP3R-associated cGMP kinase substrate"""	"""inositol 1,4,5-triphosphate-associated cGMP kinase substrate"", ""IP3R-associated cGMP kinase substrate"""	604673	604673						10321731	10321731	Standard	Standard	NM_001098579	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	uc010rcb.1	Q9Y6F6	Q9Y6F6	OTTHUMG00000165773	OTTHUMG00000165773	ENST00000436272.1:c.743G>A	11.37:g.10648057C>T	ENSP00000412229:p.Arg248His		MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000541483.1_Intron|MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000421747.1_Missense_Mutation_p.R266H|MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000423302.2_Missense_Mutation_p.R275H|MRVI1_ENST00000527509.2_Missense_Mutation_p.R184H|MRVI1_ENST00000552103.1_Missense_Mutation_p.R184H|MRVI1_ENST00000531107.1_Missense_Mutation_p.R267H|MRVI1_ENST00000436272.1_Missense_Mutation_p.R248H	p.R184H	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN		all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)	8	1051	-			248		B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Missense_Mutation	SNP	ENST00000436272.1	37	c.551G>A		.	.	.	.	.	.	.	.	.	.	C	11.93	1.786825	0.31593	.	.	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000423302;ENST00000531107;ENST00000527509	T;T;T;T;T;T;T	0.19105	2.73;2.82;2.17;2.17;2.55;2.73;2.17	5.56	4.66	0.58398	5.56	4.66	0.58398	.	0.126644	0.53938	N	0.000041	T	0.22513	0.0543	M	0.65498	2.005	0.80722	D	1	B;B;B	0.22003	0.009;0.037;0.063	B;B;B	0.17433	0.008;0.008;0.018	T	0.03706	-1.1011	10	0.21014	T	0.42	-5.4137	11.7525	0.51857	0.0:0.8584:0.0:0.1416	.	248;267;266	Q9Y6F6;E9PQY6;Q9Y6F6-4	MRVI1_HUMAN;.;.	H	266;249;248;184;184;275;267;184	ENSP00000414598:R266H;ENSP00000412229:R248H;ENSP00000448278:R184H;ENSP00000446764:R184H;ENSP00000412130:R275H;ENSP00000432436:R267H;ENSP00000432067:R184H	ENSP00000307885:R249H	R	-	2	0	0	MRVI1	10604633	10604633	0.976000	0.34144	0.851000	0.33527	0.281000	0.26958	2.018000	0.40991	1.375000	0.46248	-0.222000	0.12452	CGT		0.522	MRVI1-203	KNOWN	basic	protein_coding	protein_coding			25.501693	0	0	19	19	NM_001098579		8	25.563984	25.563984	6	0.571429	0	0	0	1	0	8	6	0.571429
CHST12	55501	broad.mit.edu	37	7	2472887	2472887	+	Missense_Mutation	SNP	G	G	A	rs138563894		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:2472887G>A	ENST00000258711.6	+	2	748	c.613G>A	c.(613-615)Gag>Aag	p.E205K		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	205					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|chondroitin 4-sulfotransferase activity (GO:0047756)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		CATCCCGCGCGAGCACGTGCA	0.647																																						ENST00000258711.6											0			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(613-615)Gag>Aag	carbohydrate (chondroitin 4) sulfotransferase 12	G	LYS/GLU	0,4406		0,0,2203	46.0	38.0	40.0		613	5.2	0.6	7	dbSNP_134	40	1,8591	1.2+/-3.3	0,1,4295	no	missense	CHST12	NM_018641.4	56	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	benign	205/415	2472887	1,12997	2203	4296	6499	SO:0001583	missense	55501			dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding	g.chr7:2472887G>A	AF239822	AF239822	CCDS5333.1	CCDS5333.1	7p22	2007-03-14			2007-03-14			ENSG00000136213	ENSG00000136213	ENSG00000136213	ENSG00000136213	2.8.2.5	"""Sulfotransferases, membrane-bound"""	"""Sulfotransferases, membrane-bound"""	17423	17423	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610129	610129						10781601	10781601	Standard	Standard	NM_018641	NM_018641		Approved	C4S-2, C4ST2	uc021zyu.1	uc021zyu.1	Q9NRB3	Q9NRB3	OTTHUMG00000023849	OTTHUMG00000023849	ENST00000258711.6:c.613G>A	7.37:g.2472887G>A	ENSP00000258711:p.Glu205Lys			p.E205K	NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)	2	748	+		Ovarian(82;0.0253)	205		A4D1Z9|Q502W3|Q9NXY7	Missense_Mutation	SNP	ENST00000258711.6	37	c.613G>A	CCDS5333.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.492927	0.44352	0.0	1.16E-4	ENSG00000136213	ENST00000258711;ENST00000432336	T;T	0.73152	1.87;-0.72	5.23	5.23	0.72850	5.23	5.23	0.72850	.	0.260251	0.38436	N	0.001697	T	0.62208	0.2409	L	0.39245	1.2	0.53005	D	0.999964	D	0.55605	0.972	B	0.40410	0.328	T	0.61103	-0.7130	10	0.17832	T	0.49	3.0E-4	18.7861	0.91955	0.0:0.0:1.0:0.0	.	205	Q9NRB3	CHSTC_HUMAN	K	205	ENSP00000258711:E205K;ENSP00000411207:E205K	ENSP00000258711:E205K	E	+	1	0	0	CHST12	2439413	2439413	1.000000	0.71417	0.560000	0.28344	0.576000	0.36127	6.371000	0.73119	2.451000	0.82905	0.561000	0.74099	GAG		0.647	CHST12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060170.3		41.677496	-4	-4	29	29	NM_018641		13	41.762685	41.762685	10	0.565217	0	0	0	1	0	13	10	0.565217
CNTROB	116840	broad.mit.edu	37	17	7852791	7852791	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:7852791C>T	ENST00000563694.1	+	19	3600	c.2675C>T	c.(2674-2676)cCg>cTg	p.P892L	CNTROB_ENST00000380262.3_Missense_Mutation_p.P914L|CNTROB_ENST00000565740.1_Missense_Mutation_p.P893L|CNTROB_ENST00000380255.3_3'UTR	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	892	Required for centrosome localization.				centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				CACCCTGCCCCGAGTAGCATG	0.547																																						ENST00000380262.3											0			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25						c.(2740-2742)cCg>cTg	centrobin, centrosomal BRCA2 interacting protein						41.0	48.0	46.0					17																	7852791		2202	4300	6502	SO:0001583	missense	116840			centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7852791C>T	AF331638	AF331638	CCDS32557.1, CCDS11126.1	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15			2006-03-15				ENSG00000170037		ENSG00000170037				29616	29616	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""centrobin"""	"""centrobin"""	611425	611425						11984006, 16275750	11984006, 16275750	Standard	Standard	NM_001037144	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	uc002gjp.3	Q8N137	Q8N137			ENST00000563694.1:c.2675C>T	17.37:g.7852791C>T	ENSP00000456335:p.Pro892Leu		CNTROB_ENST00000380255.3_3'UTR|CNTROB_ENST00000565740.1_Missense_Mutation_p.P893L|CNTROB_ENST00000563694.1_Missense_Mutation_p.P892L	p.P914L	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN			19	3666	+		Prostate(122;0.173)	892		A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Missense_Mutation	SNP	ENST00000563694.1	37	c.2741C>T	CCDS11126.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.627324	0.28978	.	.	ENSG00000170037	ENST00000380262	T	0.55760	0.5	5.91	4.94	0.65067	5.91	4.94	0.65067	.	0.119584	0.38548	N	0.001659	T	0.41003	0.1140	L	0.29908	0.895	0.39839	D	0.97308	B;B;B	0.17667	0.006;0.023;0.023	B;B;B	0.12156	0.007;0.007;0.007	T	0.38373	-0.9664	10	0.87932	D	0	-7.9452	10.9623	0.47393	0.0:0.9143:0.0:0.0857	.	893;892;914	Q8N137-3;Q8N137;Q8N137-2	.;CNTRB_HUMAN;.	L	914	ENSP00000369614:P914L	ENSP00000369614:P914L	P	+	2	0	0	CNTROB	7793516	7793516	0.034000	0.19679	0.059000	0.19551	0.037000	0.13140	2.110000	0.41873	1.501000	0.48654	0.655000	0.94253	CCG		0.547	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1		-3.247132	-12	-12	70	70	NM_053051		3	6.537677	6.537677	46	0.061224	0	0	0	1	0	3	46	0.061224
RNF43	54894	broad.mit.edu	37	17	56435311	56435311	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:56435311C>T	ENST00000584437.1	-	8	3781	c.1826G>A	c.(1825-1827)cGg>cAg	p.R609Q	RNF43_ENST00000500597.2_Missense_Mutation_p.R568Q|RNF43_ENST00000407977.2_Missense_Mutation_p.R609Q|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000583753.1_Missense_Mutation_p.R568Q|RNF43_ENST00000581868.1_Missense_Mutation_p.R482Q|RNF43_ENST00000577716.1_Missense_Mutation_p.R609Q|RNF43_ENST00000577625.1_Missense_Mutation_p.R482Q			Q68DV7	RNF43_HUMAN	ring finger protein 43	609	Pro-rich.				negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTTAGAGAGCCGCCCCGAAGG	0.637																																						ENST00000584437.1											0			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(1825-1827)cGg>cAg	ring finger protein 43						53.0	64.0	60.0					17																	56435311		2198	4296	6494	SO:0001583	missense	54894				endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56435311C>T			CCDS11607.1	CCDS11607.1	17q23.2	2013-01-09			2013-01-09								"""RING-type (C3HC4) zinc fingers"""	"""RING-type (C3HC4) zinc fingers"""	18505	18505	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612482	612482								Standard	Standard	NM_017763	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	uc002iwh.4	Q68DV7	Q68DV7			ENST00000584437.1:c.1826G>A	17.37:g.56435311C>T	ENSP00000463069:p.Arg609Gln		RNF43_ENST00000577716.1_Missense_Mutation_p.R609Q|RNF43_ENST00000407977.2_Missense_Mutation_p.R609Q|RNF43_ENST00000500597.2_Missense_Mutation_p.R568Q|RNF43_ENST00000583753.1_Missense_Mutation_p.R568Q|RNF43_ENST00000581868.1_Missense_Mutation_p.R482Q|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577625.1_Missense_Mutation_p.R482Q	p.R609Q			Q68DV7	RNF43_HUMAN			8	3781	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		609	Pro-rich.	A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	c.1826G>A	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.023999	0.00414	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.17528	2.27;2.27	5.08	0.0187	0.14117	5.08	0.0187	0.14117	.	1.727610	0.02729	N	0.114877	T	0.06690	0.0171	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.28776	-1.0033	10	0.13853	T	0.58	-13.9153	5.1916	0.15212	0.0:0.1852:0.1545:0.6603	.	568;609;609	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	Q	609;568	ENSP00000385328:R609Q;ENSP00000441969:R568Q	ENSP00000385328:R609Q	R	-	2	0	0	RNF43	53790310	53790310	0.412000	0.25392	0.005000	0.12908	0.136000	0.21042	0.976000	0.29462	0.001000	0.14605	-1.026000	0.02426	CGG		0.637	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1		57.617699	-44	-44	79	79	NM_017763		19	57.921122	57.921122	27	0.413043	0	0	0	1	0	19	27	0.413043
C1orf116	79098	broad.mit.edu	37	1	207200928	207200928	+	Missense_Mutation	SNP	G	G	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:207200928G>T	ENST00000359470.5	-	2	265	c.16C>A	c.(16-18)Ctg>Atg	p.L6M	C1orf116_ENST00000461135.2_Intron	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	6						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					GCTGGCCACAGCTCCCTCTCG	0.612																																						ENST00000359470.5											0			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29						c.(16-18)Ctg>Atg	chromosome 1 open reading frame 116						65.0	60.0	62.0					1																	207200928		2203	4300	6503	SO:0001583	missense	79098				cytoplasm|plasma membrane	receptor activity	g.chr1:207200928G>T			CCDS1475.1, CCDS44306.1	CCDS1475.1, CCDS44306.1	1q32.1	2012-06-26			2012-06-26			ENSG00000182795	ENSG00000182795	ENSG00000182795	ENSG00000182795				28667	28667	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""specifically androgen-regulated gene"""	"""specifically androgen-regulated gene"""	611680	611680						15525603, 9389513	15525603, 9389513	Standard	Standard	NM_023938	NM_023938		Approved	SARG, FLJ36507, MGC2742, MGC4309	uc001hfd.2	uc001hfd.2	Q9BW04	Q9BW04	OTTHUMG00000036580	OTTHUMG00000036580	ENST00000359470.5:c.16C>A	1.37:g.207200928G>T	ENSP00000352447:p.Leu6Met		C1orf116_ENST00000461135.2_Intron	p.L6M	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN			2	265	-	Prostate(682;0.19)		6		C9JV41|Q658X3	Missense_Mutation	SNP	ENST00000359470.5	37	c.16C>A	CCDS1475.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025097	0.75390	.	.	ENSG00000182795	ENST00000359470	T	0.11604	2.76	5.48	4.56	0.56223	5.48	4.56	0.56223	.	0.272697	0.35151	N	0.003414	T	0.29684	0.0741	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.02167	-1.1202	10	0.87932	D	0	-5.7755	13.6392	0.62239	0.0755:0.0:0.9245:0.0	.	6	Q9BW04	SARG_HUMAN	M	6	ENSP00000352447:L6M	ENSP00000352447:L6M	L	-	1	2	2	C1orf116	205267551	205267551	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.797000	0.38804	1.272000	0.44329	0.655000	0.94253	CTG		0.612	C1orf116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088973.1		-2.111334	-5	-5	46	46	NM_024115		3	6.378109	6.378109	41	0.068182	1	0	1	1	1	3	41	0.068182
CENPF	1063	broad.mit.edu	37	1	214816120	214816120	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:214816120G>A	ENST00000366955.3	+	12	4607	c.4439G>A	c.(4438-4440)tGt>tAt	p.C1480Y		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1576	2 X 96 AA approximate tandem repeats.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TCATCCTCTTGTGTGCCTGAC	0.463																																					Colon(80;575 1284 11000 14801 43496)	ENST00000366955.3											0			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126						c.(4438-4440)tGt>tAt	centromere protein F, 350/400kDa						68.0	66.0	67.0					1																	214816120		2203	4300	6503	SO:0001583	missense	1063			cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214816120G>A	U30872	U30872	CCDS31023.1	CCDS31023.1	1q41	2013-11-05	2013-01-17		2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724	ENSG00000117724	ENSG00000117724				1857	1857	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""mitosin"""	"""mitosin"""	600236	600236	"""centromere protein F, 350/400kDa (mitosin)"""		"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	7904902, 7851898	Standard	Standard	NM_016343	NM_016343		Approved	hcp-1	uc001hkm.3	uc001hkm.3	P49454	P49454	OTTHUMG00000036955	OTTHUMG00000036955	ENST00000366955.3:c.4439G>A	1.37:g.214816120G>A	ENSP00000355922:p.Cys1480Tyr			p.C1480Y	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	12	4607	+			1576	2 X 96 AA approximate tandem repeats.	Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	c.4439G>A	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	4.592	0.109987	0.08780	.	.	ENSG00000117724	ENST00000366955	T	0.36340	1.26	4.53	3.53	0.40419	4.53	3.53	0.40419	.	0.236921	0.22155	N	0.063863	T	0.27866	0.0686	L	0.27053	0.805	0.09310	N	1	D	0.56521	0.976	P	0.47528	0.549	T	0.06734	-1.0810	10	0.38643	T	0.18	.	7.9878	0.30222	0.0898:0.2759:0.6343:0.0	.	1480	P49454	CENPF_HUMAN	Y	1480	ENSP00000355922:C1480Y	ENSP00000355922:C1480Y	C	+	2	0	0	CENPF	212882743	212882743	0.466000	0.25823	0.006000	0.13384	0.110000	0.19582	2.389000	0.44407	2.223000	0.72356	0.655000	0.94253	TGT		0.463	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1		49.263712	18	18	64	64	NM_016343		17	49.263712	49.263712	17	0.500000	0	0	0	1	0	17	17	0.5
CDH3	1001	broad.mit.edu	37	16	68732183	68732183	+	Silent	SNP	G	G	A	rs533035937		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:68732183G>A	ENST00000264012.4	+	16	2914	c.2370G>A	c.(2368-2370)gcG>gcA	p.A790A	CDH3_ENST00000581171.1_Silent_p.A735A|CDH3_ENST00000429102.2_3'UTR	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	790	Ser-rich.				adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CCGACGCCGCGTCCCTGAGCT	0.612																																						ENST00000264012.4											2	Unknown(2)	breast(2)	NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25						c.(2368-2370)gcG>gcA	cadherin 3, type 1, P-cadherin (placental)						102.0	101.0	102.0					16																	68732183		2198	4300	6498	SO:0001819	synonymous_variant	1001			adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	g.chr16:68732183G>A	X63629	X63629	CCDS10868.1	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038	ENSG00000062038	ENSG00000062038		"""Cadherins / Major cadherins"""	"""Cadherins / Major cadherins"""	1762	1762	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			114021	114021	"""cadherin 3, P-cadherin (placental)"""		"""cadherin 3, P-cadherin (placental)"""			1427864	1427864	Standard	Standard	NM_001793	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	uc002ewf.2	P22223	P22223	OTTHUMG00000137560	OTTHUMG00000137560	ENST00000264012.4:c.2370G>A	16.37:g.68732183G>A			CDH3_ENST00000581171.1_Silent_p.A735A|CDH3_ENST00000429102.2_3'UTR	p.A790A	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)	16	2914	+		Ovarian(137;0.0564)	790	Ser-rich.	B2R6F4|Q05DI6	Silent	SNP	ENST00000264012.4	37	c.2370G>A	CCDS10868.1																																																																																									0.612	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2		-3.046212	-19	-19	132	132	NM_001793		7	13.638389	13.638389	84	0.076923	0	0	0	1	0	7	84	0.076923
PSD4	23550	broad.mit.edu	37	2	113940791	113940791	+	Missense_Mutation	SNP	C	C	T	rs201700173		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:113940791C>T	ENST00000245796.6	+	2	953	c.758C>T	c.(757-759)gCg>gTg	p.A253V	PSD4_ENST00000441564.3_Missense_Mutation_p.A253V	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	253					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTCTTCCTGGCGAGTCCTTGC	0.602																																						ENST00000441564.3											0			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(757-759)gCg>gTg	pleckstrin and Sec7 domain containing 4						95.0	94.0	95.0					2																	113940791		2203	4300	6503	SO:0001583	missense	23550			regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113940791C>T	U63127	U63127	CCDS33276.1	CCDS33276.1	2q13	2013-01-10			2013-01-10			ENSG00000125637	ENSG00000125637	ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	"""Pleckstrin homology (PH) domain containing"""	19096	19096	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614442	614442						12082148	12082148	Standard	Standard	XM_005263634	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	uc002tjc.3	Q8NDX1	Q8NDX1	OTTHUMG00000153339	OTTHUMG00000153339	ENST00000245796.6:c.758C>T	2.37:g.113940791C>T	ENSP00000245796:p.Ala253Val		PSD4_ENST00000245796.6_Missense_Mutation_p.A253V	p.A253V			Q8NDX1	PSD4_HUMAN			2	927	+					A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	ENST00000245796.6	37	c.758C>T	CCDS33276.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.647658	0.47258	.	.	ENSG00000125637	ENST00000245796;ENST00000441564	T;T	0.10288	2.91;2.89	5.83	3.32	0.38043	5.83	3.32	0.38043	.	0.513843	0.20444	N	0.092229	T	0.04634	0.0126	N	0.08118	0	0.80722	D	1	B;B	0.12630	0.006;0.003	B;B	0.04013	0.001;0.0	T	0.40813	-0.9543	9	.	.	.	.	6.2159	0.20656	0.7554:0.1613:0.0832:0.0	.	253;253	Q8NDX1-2;Q8NDX1	.;PSD4_HUMAN	V	253	ENSP00000245796:A253V;ENSP00000413997:A253V	.	A	+	2	0	0	PSD4	113657262	113657262	0.994000	0.37717	0.950000	0.38849	0.725000	0.41563	1.595000	0.36708	0.462000	0.27095	-1.139000	0.01908	GCG		0.602	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1		56.247712	9	9	69	69	NM_012455		18	56.270585	56.270585	20	0.473684	0	0	0	1	0	18	20	0.473684
CHMP7	91782	broad.mit.edu	37	8	23106868	23106868	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr8:23106868G>A	ENST00000397677.1	+	3	1093	c.445G>A	c.(445-447)Gtc>Atc	p.V149I	CHMP7_ENST00000313219.7_Missense_Mutation_p.V149I	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	149					endosomal transport (GO:0016197)|late endosome to vacuole transport (GO:0045324)|membrane organization (GO:0061024)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|ESCRT III complex (GO:0000815)	protein transporter activity (GO:0008565)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		AGCTGAGGAGGTCCTTGTCGC	0.557																																						ENST00000397677.1											0			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(445-447)Gtc>Atc	charged multivesicular body protein 7						66.0	58.0	61.0					8																	23106868		2203	4300	6503	SO:0001583	missense	91782			cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity	g.chr8:23106868G>A	BC019110	BC019110	CCDS6040.1	CCDS6040.1	8p21.2	2011-09-21	2011-09-21		2011-09-21	2011-09-21		ENSG00000147457	ENSG00000147457	ENSG00000147457	ENSG00000147457		"""Charged multivesicular body proteins"""	"""Charged multivesicular body proteins"""	28439	28439	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611130	611130	"""CHMP family, member 7"""		"""CHMP family, member 7"""			16856878	16856878	Standard	Standard	NM_152272	NM_152272		Approved	MGC29816	uc003xdc.2	uc003xdc.2	Q8WUX9	Q8WUX9	OTTHUMG00000131785	OTTHUMG00000131785	ENST00000397677.1:c.445G>A	8.37:g.23106868G>A	ENSP00000380794:p.Val149Ile		CHMP7_ENST00000313219.7_Missense_Mutation_p.V149I	p.V149I	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)	3	1093	+		Prostate(55;0.0513)	149		B2RDT3|B4DKJ6|D3DSS1|Q8NDM1|Q9BT50	Missense_Mutation	SNP	ENST00000397677.1	37	c.445G>A	CCDS6040.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.920655	0.33908	.	.	ENSG00000147457	ENST00000397677;ENST00000313219	T;T	0.57107	0.42;0.42	5.33	5.33	0.75918	5.33	5.33	0.75918	.	0.335174	0.32416	N	0.006140	T	0.35885	0.0947	N	0.22421	0.69	0.31742	N	0.635666	P	0.39216	0.664	B	0.35353	0.201	T	0.47799	-0.9089	10	0.35671	T	0.21	-13.4	11.1296	0.48339	0.0845:0.0:0.9155:0.0	.	149	Q8WUX9	CHMP7_HUMAN	I	149	ENSP00000380794:V149I;ENSP00000324491:V149I	ENSP00000324491:V149I	V	+	1	0	0	CHMP7	23162813	23162813	1.000000	0.71417	0.993000	0.49108	0.861000	0.49209	5.057000	0.64294	2.495000	0.84180	0.591000	0.81541	GTC		0.557	CHMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254717.1		48.174410	27	27	47	47	NM_152272		16	48.599199	48.599199	9	0.640000	0	0	0	1	0	16	9	0.64
MEST	4232	broad.mit.edu	37	7	130138026	130138026	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:130138026C>T	ENST00000223215.4	+	5	607	c.386C>T	c.(385-387)gCg>gTg	p.A129V	MEST_ENST00000437945.1_Missense_Mutation_p.A129V|MEST_ENST00000462132.1_3'UTR|MIR335_ENST00000362173.1_RNA|hsa-mir-335_ENST00000604666.1_RNA|MEST_ENST00000416162.2_Missense_Mutation_p.A120V|MEST_ENST00000341441.5_Missense_Mutation_p.A120V|MEST_ENST00000378576.4_Missense_Mutation_p.A120V|MEST_ENST00000393187.1_Missense_Mutation_p.A120V	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN	mesoderm specific transcript	129					mesoderm development (GO:0007498)|regulation of lipid storage (GO:0010883)|response to retinoic acid (GO:0032526)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					ATCGTGGAAGCGCTTTTGCGG	0.502																																					Colon(126;2182 2305 6517 35181)	ENST00000223215.4											0			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12						c.(385-387)gCg>gTg	mesoderm specific transcript						83.0	82.0	82.0					7																	130138026		2203	4300	6503	SO:0001583	missense	4232			mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding	g.chr7:130138026C>T			CCDS5822.1, CCDS5823.1, CCDS59081.1	CCDS5822.1, CCDS5823.1, CCDS59081.1	7q32	2014-08-22	2012-12-07		2014-08-22	2012-12-07		ENSG00000106484	ENSG00000106484	ENSG00000106484	ENSG00000106484				7028	7028	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""Paternally-expressed gene 1"""	"""Paternally-expressed gene 1"""	601029	601029	"""mesoderm specific transcript (mouse) homolog"", ""mesoderm specific transcript homolog (mouse)"""		"""mesoderm specific transcript (mouse) homolog"", ""mesoderm specific transcript homolog (mouse)"""			8884280	8884280	Standard	Standard	NM_002402	NM_002402		Approved	PEG1	uc003vqg.3	uc003vqg.3	Q5EB52	Q5EB52	OTTHUMG00000156661	OTTHUMG00000156661	ENST00000223215.4:c.386C>T	7.37:g.130138026C>T	ENSP00000223215:p.Ala129Val		MEST_ENST00000462132.1_3'UTR|hsa-mir-335_ENST00000604666.1_RNA|MEST_ENST00000393187.1_Missense_Mutation_p.A120V|MEST_ENST00000437945.1_Missense_Mutation_p.A129V|MEST_ENST00000378576.4_Missense_Mutation_p.A120V|MEST_ENST00000416162.2_Missense_Mutation_p.A120V|MEST_ENST00000341441.5_Missense_Mutation_p.A120V	p.A129V	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN			5	607	+	Melanoma(18;0.0435)		129		B2R6S1|O14973|O15007|Q6AI49|Q92571	Missense_Mutation	SNP	ENST00000223215.4	37	c.386C>T	CCDS5822.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.870403	0.33069	.	.	ENSG00000106484	ENST00000341441;ENST00000427521;ENST00000416162;ENST00000378576;ENST00000433159;ENST00000393187;ENST00000421001;ENST00000223215;ENST00000437945;ENST00000437637;ENST00000458161	T;T;T;T;T;T;T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59	5.33	3.41	0.39046	5.33	3.41	0.39046	.	0.421745	0.26407	N	0.024542	T	0.63402	0.2508	L	0.55017	1.72	0.39887	D	0.973712	B;B;B;B	0.25351	0.124;0.113;0.016;0.008	B;B;B;B	0.24269	0.052;0.019;0.008;0.004	T	0.65076	-0.6256	10	0.52906	T	0.07	-5.5175	9.7535	0.40490	0.0:0.7105:0.2066:0.0829	.	115;129;129;120	B4DQW6;C9JW74;Q5EB52;Q5EB52-3	.;.;MEST_HUMAN;.	V	120;120;120;120;120;120;120;129;129;120;120	ENSP00000342749:A120V;ENSP00000409505:A120V;ENSP00000408933:A120V;ENSP00000367839:A120V;ENSP00000409768:A120V;ENSP00000376884:A120V;ENSP00000407222:A120V;ENSP00000223215:A129V;ENSP00000401657:A129V;ENSP00000393709:A120V	ENSP00000223215:A129V	A	+	2	0	0	MEST	129925262	129925262	0.959000	0.32827	0.295000	0.24960	0.286000	0.27126	2.122000	0.41987	1.390000	0.46547	0.561000	0.74099	GCG		0.502	MEST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345183.2		19.013391	18	18	94	94	NM_002402		10	25.113488	25.113488	49	0.169492	0	0	0	1	0	10	49	0.169492
LRRC30	339291	broad.mit.edu	37	18	7231425	7231425	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr18:7231425G>A	ENST00000383467.2	+	1	303	c.289G>A	c.(289-291)Gtg>Atg	p.V97M		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	97										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GACCCGGATCGTGGTCCTGAA	0.582																																						ENST00000383467.2											0			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						c.(289-291)Gtg>Atg	leucine rich repeat containing 30						46.0	50.0	49.0					18																	7231425		1943	4136	6079	SO:0001583	missense	339291						g.chr18:7231425G>A			CCDS42409.1	CCDS42409.1	18p11.23	2005-01-06			2005-01-06				ENSG00000206422		ENSG00000206422				30219	30219	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001105581	NM_001105581		Approved		uc010wzk.2	uc010wzk.2	A6NM36	A6NM36			ENST00000383467.2:c.289G>A	18.37:g.7231425G>A	ENSP00000372959:p.Val97Met			p.V97M	NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN			1	303	+			97			Missense_Mutation	SNP	ENST00000383467.2	37	c.289G>A	CCDS42409.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316624	0.60524	.	.	ENSG00000206422	ENST00000383467	T	0.09817	2.94	5.65	4.78	0.61160	5.65	4.78	0.61160	.	0.107337	0.64402	N	0.000006	T	0.10294	0.0252	L	0.39467	1.215	0.41749	D	0.989658	P	0.48162	0.906	B	0.38954	0.286	T	0.14755	-1.0461	10	0.33141	T	0.24	.	14.9243	0.70866	0.0688:0.0:0.9312:0.0	.	97	A6NM36	LRC30_HUMAN	M	97	ENSP00000372959:V97M	ENSP00000372959:V97M	V	+	1	0	0	LRRC30	7221425	7221425	1.000000	0.71417	0.923000	0.36655	0.997000	0.91878	7.263000	0.78421	1.530000	0.49136	0.650000	0.86243	GTG		0.582	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442140.1		17.910025	-2	-2	45	45	XM_292678		7	19.862383	19.862383	23	0.233333	0	0	0	1	0	7	23	0.233333
MYOF	26509	broad.mit.edu	37	10	95119637	95119637	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr10:95119637G>A	ENST00000359263.4	-	29	3072	c.3073C>T	c.(3073-3075)Cga>Tga	p.R1025*	MYOF_ENST00000371502.4_Nonsense_Mutation_p.R1025*|MYOF_ENST00000358334.5_Nonsense_Mutation_p.R1012*|MYOF_ENST00000371501.4_Nonsense_Mutation_p.R1025*	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1025					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTGCGTTTTCGGACCAGCCTT	0.512																																						ENST00000371501.4											0			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(3073-3075)Cga>Tga	myoferlin						203.0	192.0	196.0					10																	95119637		1951	4138	6089	SO:0001587	stop_gained	26509			blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95119637G>A	AB033033	AB033033	CCDS41550.1, CCDS41551.1	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119	ENSG00000138119	ENSG00000138119				3656	3656	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	"""fer-1-like family member 3"""	604603	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	10607832, 10995573, 17702744	Standard	Standard	NM_013451	NM_013451		Approved	KIAA1207	uc001kin.3	uc001kin.3	Q9NZM1	Q9NZM1	OTTHUMG00000018772	OTTHUMG00000018772	ENST00000359263.4:c.3073C>T	10.37:g.95119637G>A	ENSP00000352208:p.Arg1025*		MYOF_ENST00000358334.5_Nonsense_Mutation_p.R1012*|MYOF_ENST00000359263.4_Nonsense_Mutation_p.R1025*|MYOF_ENST00000371502.4_Nonsense_Mutation_p.R1025*	p.R1025*			Q9NZM1	MYOF_HUMAN			29	3195	-			1025		B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Nonsense_Mutation	SNP	ENST00000359263.4	37	c.3073C>T	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	G	43	10.062300	0.99327	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	.	.	.	5.36	4.45	0.53987	5.36	4.45	0.53987	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.5338	15.6043	0.76649	0.0:0.0:0.8615:0.1385	.	.	.	.	X	1012;1025;1025;1025	.	ENSP00000351094:R1012X	R	-	1	2	2	MYOF	95109627	95109627	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.607000	0.36836	1.478000	0.48253	0.561000	0.74099	CGA		0.512	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2		44.008663	-24	-24	116	116	NM_013451		18	50.730648	50.730648	68	0.209302	0	0	0	1	0	18	68	0.209302
SUGP2	10147	broad.mit.edu	37	19	19115139	19115139	+	Missense_Mutation	SNP	C	C	T	rs144507791		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:19115139C>T	ENST00000601879.1	-	7	3064	c.2767G>A	c.(2767-2769)Ggc>Agc	p.G923S	SUGP2_ENST00000456085.2_Missense_Mutation_p.G692S|SUGP2_ENST00000600377.1_Missense_Mutation_p.G937S|SUGP2_ENST00000452918.2_Missense_Mutation_p.G923S|SUGP2_ENST00000337018.6_Missense_Mutation_p.G923S			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	923					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CCGGGAAGGCCGTCGGCAGGG	0.677																																						ENST00000601879.1											0			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(2767-2769)Ggc>Agc	SURP and G patch domain containing 2	C	SER/GLY,SER/GLY	1,4405	2.1+/-5.4	0,1,2202	33.0	33.0	33.0		2767,2767	2.9	0.7	19	dbSNP_134	33	0,8600		0,0,4300	no	missense,missense	SUGP2	NM_001017392.3,NM_014884.3	56,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	923/1083,923/1083	19115139	1,13005	2203	4300	6503	SO:0001583	missense	10147			mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:19115139C>T	AB002363	AB002363	CCDS12392.1	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607	ENSG00000064607	ENSG00000064607		"""G patch domain containing"""	"""G patch domain containing"""	18641	18641	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607993	607993	"""splicing factor, arginine/serine-rich 14"""	SFRS14	"""splicing factor, arginine/serine-rich 14"""	SFRS14		12594045	12594045	Standard	Standard	NM_014884	NM_014884		Approved	KIAA0365	uc002nkx.2	uc002nkx.2	Q8IX01	Q8IX01			ENST00000601879.1:c.2767G>A	19.37:g.19115139C>T	ENSP00000472286:p.Gly923Ser		SUGP2_ENST00000600377.1_Missense_Mutation_p.G937S|SUGP2_ENST00000337018.6_Missense_Mutation_p.G923S|SUGP2_ENST00000456085.2_Missense_Mutation_p.G692S|SUGP2_ENST00000452918.2_Missense_Mutation_p.G923S	p.G923S			Q8IX01	SUGP2_HUMAN			7	3064	-			923		C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Missense_Mutation	SNP	ENST00000601879.1	37	c.2767G>A	CCDS12392.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.576429	0.28092	2.27E-4	0.0	ENSG00000064607	ENST00000337018;ENST00000452918;ENST00000456085	T;T;T	0.11063	3.0;3.0;2.81	5.12	2.9	0.33743	5.12	2.9	0.33743	.	0.643972	0.14370	N	0.323824	T	0.04861	0.0131	N	0.17082	0.46	0.09310	N	1	B;B;B	0.28470	0.213;0.213;0.052	B;B;B	0.16289	0.015;0.015;0.005	T	0.42015	-0.9476	10	0.07644	T	0.81	-10.7151	6.6204	0.22800	0.1775:0.7294:0.0:0.093	.	692;923;923	E7ETX7;A8K5G0;Q8IX01	.;.;SUGP2_HUMAN	S	923;923;692	ENSP00000337926:G923S;ENSP00000389380:G923S;ENSP00000409603:G692S	ENSP00000337926:G923S	G	-	1	0	0	SUGP2	18976139	18976139	0.900000	0.30661	0.689000	0.30133	0.018000	0.09664	0.484000	0.22308	0.483000	0.27608	0.462000	0.41574	GGC		0.677	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1		10.295619	-6	-6	28	28	NM_001017392		4	10.723956	10.723956	9	0.307692	0	0	0	1	0	4	9	0.307692
EGF	1950	broad.mit.edu	37	4	110882146	110882146	+	Splice_Site	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr4:110882146G>A	ENST00000265171.5	+	7	1634		c.e7+1		EGF_ENST00000509793.1_Splice_Site|EGF_ENST00000503392.1_Splice_Site	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor						activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	CGATGTCATCGTAAGTTATAG	0.403																																						ENST00000265171.5											0			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.e7+1	epidermal growth factor						192.0	169.0	177.0					4																	110882146		2203	4300	6503	SO:0001630	splice_region_variant	1950			angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110882146G>A	X04571	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798	ENSG00000138798	ENSG00000138798				3229	3229	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			131530	131530	"""epidermal growth factor (beta-urogastrone)"""		"""epidermal growth factor (beta-urogastrone)"""					Standard	Standard	NM_001963	NM_001963		Approved		uc003hzy.4	uc003hzy.4	P01133	P01133	OTTHUMG00000132044	OTTHUMG00000132044	ENST00000265171.5:c.1189+1G>A	4.37:g.110882146G>A			EGF_ENST00000503392.1_Splice_Site|EGF_ENST00000509793.1_Splice_Site		NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	7	1634	+		Hepatocellular(203;0.0893)			B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Splice_Site	SNP	ENST00000265171.5	37		CCDS3689.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.284818	0.40394	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	.	.	.	4.82	4.82	0.62117	4.82	4.82	0.62117	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9396	0.89023	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	EGF	111101595	111101595	1.000000	0.71417	0.945000	0.38365	0.293000	0.27360	8.711000	0.91396	2.225000	0.72522	0.561000	0.74099	.		0.403	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1		5.637207	6	6	93	93		Intron	8	18.683629	18.683629	73	0.098765	0	0	0	1	0	8	73	0.098765
SPSB1	80176	broad.mit.edu	37	1	9416004	9416004	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:9416004G>A	ENST00000328089.6	+	2	395	c.54G>A	c.(52-54)acG>acA	p.T18T	SPSB1_ENST00000357898.3_Silent_p.T18T|SPSB1_ENST00000377399.2_Silent_p.T18T	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1	18					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		GGGACCCCACGTACAGGCCCC	0.582																																						ENST00000328089.6											0			breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13						c.(52-54)acG>acA	splA/ryanodine receptor domain and SOCS box containing 1						91.0	93.0	93.0					1																	9416004		2203	4300	6503	SO:0001819	synonymous_variant	80176			intracellular signal transduction	cytoplasm		g.chr1:9416004G>A			CCDS102.1	CCDS102.1	1p36.22	2008-02-05			2008-02-05			ENSG00000171621	ENSG00000171621	ENSG00000171621	ENSG00000171621				30628	30628	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611657	611657						15713673, 12076535	15713673, 12076535	Standard	Standard	NM_025106	NM_025106		Approved	SSB-1	uc010oae.2	uc010oae.2	Q96BD6	Q96BD6	OTTHUMG00000001279	OTTHUMG00000001279	ENST00000328089.6:c.54G>A	1.37:g.9416004G>A			SPSB1_ENST00000377399.2_Silent_p.T18T|SPSB1_ENST00000357898.3_Silent_p.T18T	p.T18T	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)	2	395	+	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	18		A2A275|Q59FA1|Q5TIH9|Q9BRY9|Q9H6C5	Silent	SNP	ENST00000328089.6	37	c.54G>A	CCDS102.1																																																																																									0.582	SPSB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003727.2		-3.918084	-7	-7	59	59	NM_025106		3	6.75262	6.752620	49	0.057692	0	0	0	1	0	3	49	0.057692
MIR518F	574472	broad.mit.edu	37	19	54206018	54206018	+	RNA	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:54206018G>A	ENST00000384973.1	+	0	87				MIR518B_ENST00000385127.1_RNA|MIR520B_ENST00000384989.1_RNA	NR_030194.1				microRNA 518f																		AGAGGGAAGCGCTTTCTGTTG	0.433																																						ENST00000385127.1											0																	75.0	70.0	71.0					19																	54206018		1568	3582	5150			0						g.chr19:54206018G>A					19q13.42	2011-09-12		2008-12-18	2011-09-12		2008-12-18	ENSG00000207706	ENSG00000207706	ENSG00000207706	ENSG00000207706		"""ncRNAs / Micro RNAs"""	"""ncRNAs / Micro RNAs"""	32104	32104	non-coding RNA	RNA, micro	non-coding RNA	RNA, micro						MIRN518F		MIRN518F				Standard	Standard	NR_030194	NR_030194		Approved	hsa-mir-518f	uc021uzx.1	uc021uzx.1						19.37:g.54206018G>A					NR_030196.1						0	28	+						RNA	SNP	ENST00000384973.1	37																																																																																											0.433	MIR518F-201	KNOWN	basic	miRNA	miRNA			0.861729	3	3	81	81	NR_030194		4	9.331493	9.331493	44	0.083333	0	0	0	1	0	4	44	0.083333
MEN1	4221	broad.mit.edu	37	11	64575121	64575121	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:64575121C>T	ENST00000337652.1	-	4	1204	c.701G>A	c.(700-702)cGc>cAc	p.R234H	MEN1_ENST00000377316.2_Missense_Mutation_p.R229H|MEN1_ENST00000377313.1_Missense_Mutation_p.R234H|MEN1_ENST00000394376.1_Missense_Mutation_p.R234H|MEN1_ENST00000394374.2_Missense_Mutation_p.R234H|MEN1_ENST00000377321.1_Missense_Mutation_p.R194H|MEN1_ENST00000478548.1_5'Flank|MEN1_ENST00000377326.3_Missense_Mutation_p.R229H|MEN1_ENST00000443283.1_Missense_Mutation_p.R234H|MEN1_ENST00000315422.4_Missense_Mutation_p.R229H|MEN1_ENST00000312049.6_Missense_Mutation_p.R229H	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	234	Interaction with FANCD2.		R -> L (in MEN1). {ECO:0000269|PubMed:10993647}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						GCGGTCACAGCGCATGTATGA	0.562			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	ENST00000337652.1	yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	multiple endocrine neoplasia type 1 gene		E	0			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337	GRCh37	CM004415|CM045305	MEN1	M		c.(700-702)cGc>cAc	multiple endocrine neoplasia I						125.0	109.0	114.0					11																	64575121		2201	4297	6498	SO:0001583	missense	0	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	g.chr11:64575121C>T	U93236	U93236	CCDS8083.1, CCDS31600.1	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			2014-09-17			ENSG00000133895	ENSG00000133895	ENSG00000133895	ENSG00000133895				7010	7010	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""menin"""	"""menin"""	613733	613733								Standard	Standard	NM_130799	NM_130799		Approved		uc001obn.3	uc001obn.3	O00255	O00255	OTTHUMG00000045366	OTTHUMG00000045366	ENST00000337652.1:c.701G>A	11.37:g.64575121C>T	ENSP00000337088:p.Arg234His		MEN1_ENST00000377326.3_Missense_Mutation_p.R229H|MEN1_ENST00000394374.2_Missense_Mutation_p.R234H|MEN1_ENST00000312049.6_Missense_Mutation_p.R229H|MEN1_ENST00000377316.2_Missense_Mutation_p.R229H|MEN1_ENST00000443283.1_Missense_Mutation_p.R234H|MEN1_ENST00000394376.1_Missense_Mutation_p.R234H|MEN1_ENST00000377321.1_Missense_Mutation_p.R194H|MEN1_ENST00000315422.4_Missense_Mutation_p.R229H|MEN1_ENST00000377313.1_Missense_Mutation_p.R234H	p.R234H	NM_130803.2	NP_570715	O00255	MEN1_HUMAN			4	1204	-			234	Interaction with FANCD2.	A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000337652.1	37	c.701G>A	CCDS8083.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.847087	0.51164	.	.	ENSG00000133895	ENST00000377316;ENST00000377321;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313;ENST00000440873;ENST00000450708;ENST00000413626	D;D;D;D;D;D;D;D;D;D;D;D;D	0.99394	-5.82;-5.82;-5.82;-5.82;-5.82;-5.82;-5.82;-5.82;-5.82;-5.82;-5.82;-5.82;-5.82	4.8	4.8	0.61643	4.8	4.8	0.61643	.	0.064279	0.64402	D	0.000019	D	0.97433	0.9160	N	0.14661	0.345	0.41211	D	0.986448	B;D;P	0.64830	0.388;0.994;0.633	B;P;B	0.48488	0.041;0.579;0.095	D	0.97644	1.0150	10	0.39692	T	0.17	-24.3381	15.7433	0.77920	0.0:1.0:0.0:0.0	.	229;194;234	O00255-2;O00255-3;O00255	.;.;MEN1_HUMAN	H	229;194;229;229;229;234;234;234;234;234;229;229;229	ENSP00000366533:R229H;ENSP00000366538:R194H;ENSP00000366543:R229H;ENSP00000308975:R229H;ENSP00000323747:R229H;ENSP00000337088:R234H;ENSP00000377901:R234H;ENSP00000377899:R234H;ENSP00000396940:R234H;ENSP00000366530:R234H;ENSP00000413944:R229H;ENSP00000394933:R229H;ENSP00000411218:R229H	ENSP00000308975:R229H	R	-	2	0	0	MEN1	64331697	64331697	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.678000	0.61641	2.386000	0.81285	0.462000	0.41574	CGC		0.562	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1		39.335551	10	10	89	89			14	40.496006	40.496006	29	0.325581	0	0	0	1	0	14	29	0.325581
LTBP4	8425	broad.mit.edu	37	19	41129854	41129854	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:41129854C>T	ENST00000308370.7	+	30	3897	c.3897C>T	c.(3895-3897)tgC>tgT	p.C1299C	LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000204005.9_Silent_p.C1262C|LTBP4_ENST00000545697.1_Silent_p.C667C|LTBP4_ENST00000396819.3_Silent_p.C1232C	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1300	EGF-like 14; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ATGACGAGTGCGCCGATGAGG	0.582																																						ENST00000308370.7											0			central_nervous_system(1)	1						c.(3895-3897)tgC>tgT	latent transforming growth factor beta binding protein 4						34.0	41.0	39.0					19																	41129854		2036	4183	6219	SO:0001819	synonymous_variant	8425			growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41129854C>T	Y13622	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20			2011-10-20				ENSG00000090006		ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	"""Latent transforming growth factor, beta binding proteins"""	6717	6717	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604710	604710						9660815, 9271198	9660815, 9271198	Standard	Standard	NM_003573	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	uc002ooh.1	Q8N2S1	Q8N2S1			ENST00000308370.7:c.3897C>T	19.37:g.41129854C>T			LTBP4_ENST00000396819.3_Silent_p.C1232C|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000545697.1_Silent_p.C667C|LTBP4_ENST00000204005.9_Silent_p.C1262C|LTBP4_ENST00000243562.9_3'UTR	p.C1299C	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		30	3897	+			1300	EGF-like 14; calcium-binding (Potential).	O00508|O75412|O75413	Silent	SNP	ENST00000308370.7	37	c.3897C>T																																																																																										0.582	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			15.139766	1	1	47	47	NM_003573		6	16.164437	16.164437	16	0.272727	0	0	0	1	0	6	16	0.272727
CYP17A1	1586	broad.mit.edu	37	10	104592367	104592367	+	Missense_Mutation	SNP	C	C	T	rs61754278	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr10:104592367C>T	ENST00000369887.3	-	6	1211	c.1040G>A	c.(1039-1041)cGt>cAt	p.R347H	CYP17A1_ENST00000489268.1_5'Flank|CYP17A1-AS1_ENST00000369884.4_RNA	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	347			R -> C (in AH5). {ECO:0000269|PubMed:12466376}.|R -> H (in AH5; selectively ablates 17,20-lyase activity, while preserving most 17alpha-hydroxylase activity). {ECO:0000269|PubMed:11549685, ECO:0000269|PubMed:12466376, ECO:0000269|Ref.20}.		adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|biphenyl metabolic process (GO:0018879)|cellular response to antibiotic (GO:0071236)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to lipopolysaccharide (GO:0071222)|dibenzo-p-dioxin metabolic process (GO:0018894)|glucocorticoid biosynthetic process (GO:0006704)|hippocampus development (GO:0021766)|hormone biosynthetic process (GO:0042446)|Leydig cell differentiation (GO:0033327)|ovulation (GO:0030728)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|progesterone metabolic process (GO:0042448)|response to acetate (GO:0010034)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to insecticide (GO:0017085)|response to ionizing radiation (GO:0010212)|response to methylmercury (GO:0051597)|response to nutrient levels (GO:0031667)|response to retinoic acid (GO:0032526)|response to steroid hormone (GO:0048545)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	axon (GO:0030424)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)	17-alpha-hydroxyprogesterone aldolase activity (GO:0047442)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|steroid 17-alpha-monooxygenase activity (GO:0004508)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	Abiraterone(DB05812)|Aminophenazone(DB01424)|Dexamethasone(DB01234)|Metoclopramide(DB01233)|Progesterone(DB00396)	GAGACGGTTACGGTCACTGAT	0.572																																						ENST00000369887.3											0			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18	GRCh37	CM960476	CYP17A1	M	rs61754278	c.(1039-1041)cGt>cAt	cytochrome P450, family 17, subfamily A, polypeptide 1						154.0	127.0	136.0					10																	104592367		2203	4300	6503	SO:0001583	missense	1586			androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity	g.chr10:104592367C>T	M19489	M19489	CCDS7541.1	CCDS7541.1	10q24.3	2010-05-04	2003-02-14	2003-02-28	2010-05-04	2003-02-14	2003-02-28	ENSG00000148795	ENSG00000148795	ENSG00000148795	ENSG00000148795	1.14.99.9	"""Cytochrome P450s"""	"""Cytochrome P450s"""	2593	2593	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""Steroid 17-alpha-monooxygenase"""	"""Steroid 17-alpha-monooxygenase"""	609300	609300	"""cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia"""	CYP17	"""cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia"""	CYP17		1347802	1347802	Standard	Standard	NM_000102	NM_000102		Approved	P450C17, CPT7, S17AH	uc001kwg.3	uc001kwg.3	P05093	P05093	OTTHUMG00000018969	OTTHUMG00000018969	ENST00000369887.3:c.1040G>A	10.37:g.104592367C>T	ENSP00000358903:p.Arg347His			p.R347H	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	6	1211	-		Colorectal(252;0.122)|all_hematologic(284;0.152)	347		Q5TZV7	Missense_Mutation	SNP	ENST00000369887.3	37	c.1040G>A	CCDS7541.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466936	0.63625	.	.	ENSG00000148795	ENST00000369887	T	0.70164	-0.46	5.37	4.46	0.54185	5.37	4.46	0.54185	.	0.107006	0.64402	D	0.000007	T	0.81631	0.4863	M	0.81802	2.56	0.58432	D	0.999995	D	0.89917	1.0	D	0.77004	0.989	D	0.84511	0.0622	10	0.87932	D	0	.	13.9121	0.63873	0.0:0.9253:0.0:0.0747	rs61754278	347	P05093	CP17A_HUMAN	H	347	ENSP00000358903:R347H	ENSP00000358903:R347H	R	-	2	0	0	CYP17A1	104582357	104582357	1.000000	0.71417	0.952000	0.39060	0.049000	0.14656	7.368000	0.79567	1.393000	0.46605	0.561000	0.74099	CGT		0.572	CYP17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050101.1		49.991615	-17	-17	91	91	NM_000102		19	53.789695	53.789695	54	0.260274	0	0	0	1	0	19	54	0.260274
MYL10	93408	broad.mit.edu	37	7	101259574	101259574	+	Silent	SNP	C	C	T	rs567400190		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:101259574C>T	ENST00000223167.4	-	6	636	c.459G>A	c.(457-459)acG>acA	p.T153T		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	153						mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						CCTCTGGGTCCGTGCCTATAA	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		18592	0.001		0.0	False		,,,				2504	0.0				Esophageal Squamous(24;575 709 17516 40384 51639)	ENST00000223167.4											0			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						c.(457-459)acG>acA	myosin, light chain 10, regulatory						101.0	80.0	87.0					7																	101259574		2203	4300	6503	SO:0001819	synonymous_variant	93408				mitochondrion	calcium ion binding	g.chr7:101259574C>T	BC002778	BC002778	CCDS34713.1	CCDS34713.1	7q22.1	2013-01-10			2013-01-10			ENSG00000106436	ENSG00000106436	ENSG00000106436	ENSG00000106436		"""Myosins / Light chain"", ""EF-hand domain containing"""	"""Myosins / Light chain"", ""EF-hand domain containing"""	29825	29825	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										1628631	1628631	Standard	Standard	NM_138403	NM_138403		Approved	MGC3479, MYLC2PL, PLRLC	uc003uyr.3	uc003uyr.3	Q9BUA6	Q9BUA6	OTTHUMG00000157137	OTTHUMG00000157137	ENST00000223167.4:c.459G>A	7.37:g.101259574C>T				p.T153T	NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN			6	636	-			153			Silent	SNP	ENST00000223167.4	37	c.459G>A	CCDS34713.1																																																																																									0.592	MYL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347575.1		9.891388	18	18	37	37	NM_138403		4	10.980863	10.980863	13	0.235294	0	0	0	1	0	4	13	0.235294
VWF	7450	broad.mit.edu	37	12	6128639	6128639	+	Silent	SNP	G	G	A	rs143009893		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:6128639G>A	ENST00000261405.5	-	28	4199	c.3945C>T	c.(3943-3945)cgC>cgT	p.R1315R		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1315	VWFA 1; binding site for platelet glycoprotein Ib. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCACGGCCACGCGGACCCACT	0.632													g|||	1	0.000199681	0.0	0.0	5008	,	,		17187	0.001		0.0	False		,,,				2504	0.0					ENST00000261405.5											0			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(3943-3945)cgC>cgT	von Willebrand factor	A		0,4406		0,0,2203	58.0	58.0	58.0		3945	-10.0	0.3	12	dbSNP_134	58	1,8599		0,1,4299	no	coding-synonymous	VWF	NM_000552.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1315/2814	6128639	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7450			blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6128639G>A			CCDS8539.1	CCDS8539.1	12p13.3	2014-09-17			2014-09-17			ENSG00000110799	ENSG00000110799	ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	"""Endogenous ligands"""	12726	12726	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613160	613160		F8VWF		F8VWF		2251280	2251280	Standard	Standard	NM_000552	NM_000552		Approved		uc001qnn.1	uc001qnn.1	P04275	P04275	OTTHUMG00000168265	OTTHUMG00000168265	ENST00000261405.5:c.3945C>T	12.37:g.6128639G>A				p.R1315R	NM_000552.3	NP_000543	P04275	VWF_HUMAN			28	4199	-			1315	VWFA 1; binding site for platelet glycoprotein Ib.	Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	c.3945C>T	CCDS8539.1																																																																																									0.632	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1		85.325797	-14	-14	70	70	NM_000552		27	85.48872	85.488720	21	0.562500	0	0	0	1	0	27	21	0.5625
KMT2C	58508	broad.mit.edu	37	7	151879152	151879152	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:151879152C>T	ENST00000262189.6	-	36	6011	c.5793G>A	c.(5791-5793)tcG>tcA	p.S1931S	KMT2C_ENST00000355193.2_Silent_p.S1931S	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1931	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GCCTAGATACCGATGATAAAG	0.448																																						ENST00000355193.2											0										c.(5791-5793)tcG>tcA	lysine (K)-specific methyltransferase 2C						96.0	99.0	98.0					7																	151879152		2203	4300	6503	SO:0001819	synonymous_variant	58508						g.chr7:151879152C>T	AF264750	AF264750	CCDS5931.1	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	13726	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606833	606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	10819331	Standard	Standard	XM_005250026	XM_005250026		Approved	KIAA1506, HALR			Q8NEZ4	Q8NEZ4	OTTHUMG00000150553	OTTHUMG00000150553	ENST00000262189.6:c.5793G>A	7.37:g.151879152C>T			KMT2C_ENST00000262189.6_Silent_p.S1931S	p.S1931S							36	6011	-					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.5793G>A	CCDS5931.1																																																																																									0.448	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		14.928640	-13	-13	77	77			9	24.093327	24.093327	60	0.130435	0	0	0	1	0	9	60	0.130435
ADIPOR1	51094	broad.mit.edu	37	1	202920081	202920081	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:202920081G>A	ENST00000340990.5	-	2	416	c.118C>T	c.(118-120)Cgg>Tgg	p.R40W	ADIPOR1_ENST00000367254.3_Missense_Mutation_p.R40W|ADIPOR1_ENST00000436244.1_Missense_Mutation_p.R40W	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	40					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|hormone-mediated signaling pathway (GO:0009755)|leptin-mediated signaling pathway (GO:0033210)|negative regulation of cell growth (GO:0030308)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of JAK-STAT cascade (GO:0046427)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			GCGATTACCCGTTTGCCCTTC	0.512																																						ENST00000340990.5											0			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16						c.(118-120)Cgg>Tgg	adiponectin receptor 1						184.0	169.0	174.0					1																	202920081		2203	4300	6503	SO:0001583	missense	51094			fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity	g.chr1:202920081G>A			CCDS1430.1	CCDS1430.1	1q32.1	2012-08-22			2012-08-22			ENSG00000159346	ENSG00000159346	ENSG00000159346	ENSG00000159346		"""GPCR / Unclassified : Adiponectin receptors"""	"""GPCR / Unclassified : Adiponectin receptors"""	24040	24040	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607945	607945						12802337	12802337	Standard	Standard	XM_006711360	XM_006711360		Approved	PAQR1, ACDCR1	uc001gyq.5	uc001gyq.5	Q96A54	Q96A54	OTTHUMG00000041391	OTTHUMG00000041391	ENST00000340990.5:c.118C>T	1.37:g.202920081G>A	ENSP00000341785:p.Arg40Trp		ADIPOR1_ENST00000367254.3_Missense_Mutation_p.R40W|ADIPOR1_ENST00000436244.1_Missense_Mutation_p.R40W	p.R40W	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.141)		2	416	-			40		B3KMB0|Q53HS7|Q53YY6|Q9Y360	Missense_Mutation	SNP	ENST00000340990.5	37	c.118C>T	CCDS1430.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.436512	0.62955	.	.	ENSG00000159346	ENST00000340990;ENST00000436244;ENST00000417068;ENST00000367254;ENST00000426229	D;D;D;D;D	0.96885	-4.16;-4.16;-4.16;-4.16;-4.16	5.96	5.96	0.96718	5.96	5.96	0.96718	.	0.307883	0.35235	N	0.003343	D	0.90638	0.7064	N	0.22421	0.69	0.52501	D	0.999959	P	0.48589	0.912	B	0.26969	0.075	D	0.92131	0.5712	10	0.66056	D	0.02	.	17.1315	0.86727	0.0:0.0:1.0:0.0	.	40	Q96A54	ADR1_HUMAN	W	40	ENSP00000341785:R40W;ENSP00000395469:R40W;ENSP00000402178:R40W;ENSP00000356223:R40W;ENSP00000392946:R40W	ENSP00000341785:R40W	R	-	1	2	2	ADIPOR1	201186704	201186704	1.000000	0.71417	0.918000	0.36340	0.729000	0.41735	6.601000	0.74136	2.824000	0.97209	0.655000	0.94253	CGG		0.512	ADIPOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099160.2		79.743232	-22	-22	94	94	NM_015999		26	80.309671	80.309671	39	0.400000	0	0	0	1	0	26	39	0.4
HUWE1	10075	broad.mit.edu	37	X	53602625	53602625	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:53602625G>A	ENST00000342160.3	-	44	6465	c.6008C>T	c.(6007-6009)aCg>aTg	p.T2003M	HUWE1_ENST00000262854.6_Missense_Mutation_p.T2003M			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2003					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ACCTGACTGCGTATCAAAGTC	0.458																																						ENST00000342160.3											0			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(6007-6009)aCg>aTg	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase						111.0	87.0	95.0					X																	53602625		2203	4300	6503	SO:0001583	missense	10075			base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53602625G>A	AB071605	AB071605	CCDS35301.1	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758	ENSG00000086758	ENSG00000086758				30892	30892	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300697	300697	"""HECT, UBA and WWE domain containing 1"""		"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	9205841, 10998601	Standard	Standard	NM_031407	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	uc004dsp.4	Q7Z6Z7	Q7Z6Z7	OTTHUMG00000021617	OTTHUMG00000021617	ENST00000342160.3:c.6008C>T	X.37:g.53602625G>A	ENSP00000340648:p.Thr2003Met		HUWE1_ENST00000262854.6_Missense_Mutation_p.T2003M	p.T2003M			Q7Z6Z7	HUWE1_HUMAN			44	6465	-			2003		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.6008C>T	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.449154	0.26074	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.37411	1.2;1.2	5.43	4.55	0.56014	5.43	4.55	0.56014	.	0.844996	0.10359	N	0.684181	T	0.22627	0.0546	N	0.08118	0	0.09310	N	1	D;D	0.56521	0.958;0.976	B;B	0.41571	0.197;0.36	T	0.06935	-1.0799	10	0.45353	T	0.12	.	12.7868	0.57510	0.0:0.3067:0.6933:0.0	.	2003;2003	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	M	2003	ENSP00000340648:T2003M;ENSP00000262854:T2003M	ENSP00000262854:T2003M	T	-	2	0	0	HUWE1	53619350	53619350	0.951000	0.32395	0.464000	0.27143	0.881000	0.50899	5.027000	0.64109	1.049000	0.40321	0.600000	0.82982	ACG		0.458	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1		5.943443	-2	-2	57	57	XM_497119		5	12.42209	12.422090	39	0.113636	0	0	0	1	0	5	39	0.113636
CACNA1D	776	broad.mit.edu	37	3	53769529	53769529	+	Splice_Site	SNP	C	C	T	rs145327253		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr3:53769529C>T	ENST00000350061.5	+	20	3261	c.2750C>T	c.(2749-2751)aCg>aTg	p.T917M	CACNA1D_ENST00000422281.2_Splice_Site_p.T917M|CACNA1D_ENST00000288139.4_Splice_Site_p.T937M	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	917					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TTCCGGAACACGGTAAGTCCC	0.622																																						ENST00000288139.4											0			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(2809-2811)aCg>aTg	calcium channel, voltage-dependent, L type, alpha 1D subunit	C	MET/THR,MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	54.0	49.0	51.0		2810,2750,2750	4.3	1.0	3	dbSNP_134	51	0,8600		0,0,4300	no	missense-near-splice,missense-near-splice,missense-near-splice	CACNA1D	NM_000720.2,NM_001128839.1,NM_001128840.1	81,81,81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign	937/2182,917/2138,917/2162	53769529	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	776			axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53769529C>T	AB209171	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			2012-03-07			ENSG00000157388	ENSG00000157388	ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	1391	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			114206	114206		CCHL1A2, CACNL1A2		CCHL1A2, CACNL1A2		1664412	1664412	Standard	Standard	NM_000720	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	uc003dgu.5	Q01668	Q01668	OTTHUMG00000158278	OTTHUMG00000158278	ENST00000350061.5:c.2751+1C>T	3.37:g.53769529C>T			CACNA1D_ENST00000422281.2_Splice_Site_p.T917M|CACNA1D_ENST00000350061.5_Splice_Site_p.T917M	p.T937M	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	21	2928	+					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Splice_Site	SNP	ENST00000350061.5	37	c.2810C>T	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.245047	0.22796	2.27E-4	0.0	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	D;D;D;D	0.97505	-4.41;-4.41;-4.41;-4.41	5.22	4.33	0.51752	5.22	4.33	0.51752	.	0.213333	0.39475	N	0.001349	D	0.93413	0.7899	N	0.24115	0.695	0.80722	D	1	P;P;P;D	0.54047	0.939;0.82;0.68;0.964	B;B;B;P	0.47075	0.335;0.172;0.172;0.536	D	0.91665	0.5345	10	0.46703	T	0.11	.	7.7477	0.28879	0.2688:0.6458:0.0:0.0853	.	917;610;917;937	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	M	917;937;917;610	ENSP00000288133:T917M;ENSP00000288139:T937M;ENSP00000409174:T917M;ENSP00000418014:T610M	ENSP00000288139:T937M	T	+	2	0	0	CACNA1D	53744569	53744569	0.979000	0.34478	0.968000	0.41197	0.332000	0.28634	2.257000	0.43240	2.604000	0.88044	0.555000	0.69702	ACG		0.622	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1		27.158392	-12	-12	38	38	NM_000720	Missense_Mutation	8	28.451255	28.451255	1	0.888889	0	0	0	1	0	8	1	0.888889
ROBO1	6091	broad.mit.edu	37	3	78700895	78700895	+	Silent	SNP	C	C	T	rs374375350		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr3:78700895C>T	ENST00000464233.1	-	19	2912	c.2799G>A	c.(2797-2799)gcG>gcA	p.A933A	ROBO1_ENST00000495273.1_Silent_p.A897A|ROBO1_ENST00000467549.1_Silent_p.A897A|ROBO1_ENST00000436010.2_Silent_p.A894A	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	933					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TTCTGATACCCGCGTAGGTAC	0.373													C|||	1	0.000199681	0.0	0.0	5008	,	,		16226	0.0		0.001	False		,,,				2504	0.0					ENST00000436010.2											0			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.(2680-2682)gcG>gcA	roundabout, axon guidance receptor, homolog 1 (Drosophila)	C	,,	0,3760		0,0,1880	61.0	57.0	58.0		2691,2799,2691	-3.3	0.9	3		58	1,8227		0,1,4113	no	coding-synonymous,coding-synonymous,coding-synonymous	ROBO1	NM_001145845.1,NM_002941.3,NM_133631.3	,,	0,1,5993	TT,TC,CC		0.0122,0.0,0.0083	,,	897/1552,933/1652,897/1607	78700895	1,11987	1880	4114	5994	SO:0001819	synonymous_variant	6091			activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78700895C>T	AF040990	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855	ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	10249	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602430	602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""		"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	9458045, 9608531	Standard	Standard	NM_002941	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	uc003dqe.2	Q9Y6N7	Q9Y6N7	OTTHUMG00000158843	OTTHUMG00000158843	ENST00000464233.1:c.2799G>A	3.37:g.78700895C>T			ROBO1_ENST00000464233.1_Silent_p.A933A|ROBO1_ENST00000495273.1_Silent_p.A897A|ROBO1_ENST00000467549.1_Silent_p.A897A	p.A894A			Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	17	3679	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	933		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Silent	SNP	ENST00000464233.1	37	c.2682G>A	CCDS54611.1																																																																																									0.373	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1		35.294551	-5	-5	17	17	NM_002941		9	35.292597	35.292597	0	1.000000	0	0	0	1	0	9	0	1.0
EPPK1	83481	broad.mit.edu	37	8	144945210	144945210	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr8:144945210C>T	ENST00000525985.1	-	2	2283	c.2212G>A	c.(2212-2214)Gtg>Atg	p.V738M				P58107	EPIPL_HUMAN	epiplakin 1	738						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCCACGGGCACGCGGTGGCTG	0.657																																						ENST00000525985.1											0			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2212-2214)Gtg>Atg	epiplakin 1						74.0	78.0	77.0					8																	144945210		2038	4153	6191	SO:0001583	missense	83481				cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144945210C>T	AB051895	AB051895	CCDS75800.1	CCDS75800.1	8q24.3	2014-09-17			2014-09-17				ENSG00000261150		ENSG00000261150				15577	15577	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	"""epidermal autoantigen 450K"""	607553	607553						11278896, 15671067	11278896, 15671067	Standard	Standard	NM_031308	NM_031308		Approved	EPIPL1	uc003zaa.1	uc003zaa.1	P58107	P58107			ENST00000525985.1:c.2212G>A	8.37:g.144945210C>T	ENSP00000436337:p.Val738Met			p.V738M			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	2283	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		738		Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.2212G>A		.	.	.	.	.	.	.	.	.	.	C	18.36	3.606780	0.66558	.	.	ENSG00000227184	ENST00000525985	T	0.72725	-0.68	5.06	-0.187	0.13268	5.06	-0.187	0.13268	.	.	.	.	.	T	0.77512	0.4141	M	0.63208	1.945	0.19300	N	0.999978	D	0.69078	0.997	P	0.61003	0.882	T	0.68375	-0.5425	9	0.59425	D	0.04	.	11.4787	0.50312	0.0:0.4244:0.5017:0.0739	.	738	E9PPU0	.	M	738	ENSP00000436337:V738M	ENSP00000436337:V738M	V	-	1	0	0	EPPK1	145017198	145017198	0.000000	0.05858	0.707000	0.30419	0.869000	0.49853	-2.418000	0.01034	0.021000	0.15133	-0.165000	0.13383	GTG		0.657	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1		3.482423	-20	-20	91	91	NM_031308		7	14.921057	14.921057	64	0.098592	0	0	0	1	0	7	64	0.098592
TCHH	7062	broad.mit.edu	37	1	152081633	152081633	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:152081633G>A	ENST00000368804.1	-	2	4059	c.4060C>T	c.(4060-4062)Cgc>Tgc	p.R1354C		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1354	23 X 26 AA approximate tandem repeats.			R -> L (in Ref. 1; AAA65582). {ECO:0000305}.	keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTTGGCGGCGCAGCGGCTGT	0.572																																						ENST00000368804.1											0			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(4060-4062)Cgc>Tgc	trichohyalin						138.0	144.0	142.0					1																	152081633		1890	4107	5997	SO:0001583	missense	7062			keratinization	cytoskeleton	calcium ion binding	g.chr1:152081633G>A	L09190	L09190	CCDS41396.1	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	"""EF-hand domain containing"""	11791	11791	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			190370	190370		THH		THH		1431214	1431214	Standard	Standard	NM_007113	NM_007113		Approved		uc001ezp.3	uc001ezp.3	Q07283	Q07283	OTTHUMG00000013066	OTTHUMG00000013066	ENST00000368804.1:c.4060C>T	1.37:g.152081633G>A	ENSP00000357794:p.Arg1354Cys			p.R1354C	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4059	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1354	23 X 26 AA approximate tandem repeats.	Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.4060C>T	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	G	6.776	0.512198	0.12944	.	.	ENSG00000159450	ENST00000368804	T	0.07327	3.2	3.89	0.815	0.18763	3.89	0.815	0.18763	.	.	.	.	.	T	0.01905	0.0060	L	0.46157	1.445	0.09310	N	1	P	0.34587	0.458	B	0.19391	0.025	T	0.42716	-0.9435	9	0.54805	T	0.06	-0.0532	5.1338	0.14924	0.2864:0.0:0.5642:0.1494	.	1354	Q07283	TRHY_HUMAN	C	1354	ENSP00000357794:R1354C	ENSP00000357794:R1354C	R	-	1	0	0	TCHH	150348257	150348257	0.005000	0.15991	0.001000	0.08648	0.067000	0.16453	0.756000	0.26419	-0.124000	0.11724	-1.135000	0.01939	CGC		0.572	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2		9.409212	-61	-61	210	210	NM_007113		18	40.494369	40.494369	171	0.095238	0	0	0	1	0	18	171	0.095238
MRGPRX2	117194	broad.mit.edu	37	11	19077851	19077851	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:19077851C>T	ENST00000329773.2	-	2	186	c.99G>A	c.(97-99)ccG>ccA	p.P33P		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	33					positive regulation of cytokinesis (GO:0032467)|sensory perception of pain (GO:0019233)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide binding (GO:0042923)			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						TCAGGAAGACCGGGATCAGGG	0.562																																					GBM(198;1966 2199 4849 37227 49954)	ENST00000329773.2											0			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						c.(97-99)ccG>ccA	MAS-related GPR, member X2						148.0	158.0	154.0					11																	19077851		2199	4293	6492	SO:0001819	synonymous_variant	117194			sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	g.chr11:19077851C>T			CCDS7847.1	CCDS7847.1	11p15.1	2013-10-10			2013-10-10			ENSG00000183695	ENSG00000183695	ENSG00000183695	ENSG00000183695		"""GPCR / Class A : Orphans"""	"""GPCR / Class A : Orphans"""	17983	17983	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607228	607228						11551509	11551509	Standard	Standard	NM_054030	NM_054030		Approved	MRGX2	uc001mph.3	uc001mph.3	Q96LB1	Q96LB1	OTTHUMG00000166098	OTTHUMG00000166098	ENST00000329773.2:c.99G>A	11.37:g.19077851C>T				p.P33P	NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN			2	186	-			33		B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7	Silent	SNP	ENST00000329773.2	37	c.99G>A	CCDS7847.1																																																																																									0.562	MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387819.1		50.486404	-33	-33	120	120	NM_054030		22	60.723103	60.723103	93	0.191304	0	0	0	1	0	22	93	0.191304
TXN2	25828	broad.mit.edu	37	22	36876736	36876736	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr22:36876736C>T	ENST00000216185.2	-	2	615	c.149G>A	c.(148-150)cGg>cAg	p.R50Q	TXN2_ENST00000487725.1_5'UTR|TXN2_ENST00000416967.1_5'UTR|TXN2_ENST00000403313.1_Missense_Mutation_p.R50Q			Q99757	THIOM_HUMAN	thioredoxin 2	50					cell redox homeostasis (GO:0045454)|cellular response to nutrient levels (GO:0031669)|glycerol ether metabolic process (GO:0006662)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|response to oxidative stress (GO:0006979)	dendrite (GO:0030425)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)	protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|lung(1)|prostate(1)	3						GTATATTGTCCGGGCTGGGTT	0.552																																						ENST00000216185.2											0			breast(1)|lung(1)|prostate(1)	3						c.(148-150)cGg>cAg	thioredoxin 2						157.0	133.0	142.0					22																	36876736		2203	4300	6503	SO:0001583	missense	25828			cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	mitochondrion|nucleolus	electron carrier activity	g.chr22:36876736C>T	U78678	U78678	CCDS13928.1	CCDS13928.1	22q13.1	2008-06-11			2008-06-11			ENSG00000100348	ENSG00000100348	ENSG00000100348	ENSG00000100348				17772	17772	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609063	609063						9006939, 17220299	9006939, 17220299	Standard	Standard	NM_012473	NM_012473		Approved	MT-TRX	uc003apk.1	uc003apk.1	Q99757	Q99757	OTTHUMG00000150596	OTTHUMG00000150596	ENST00000216185.2:c.149G>A	22.37:g.36876736C>T	ENSP00000216185:p.Arg50Gln		TXN2_ENST00000487725.1_5'UTR|TXN2_ENST00000416967.1_5'UTR|TXN2_ENST00000403313.1_Missense_Mutation_p.R50Q	p.R50Q			Q99757	THIOM_HUMAN			2	615	-			50		Q5JZA0|Q6FH60|Q9UH29	Missense_Mutation	SNP	ENST00000216185.2	37	c.149G>A	CCDS13928.1	.	.	.	.	.	.	.	.	.	.	c	16.64	3.179378	0.57800	.	.	ENSG00000100348	ENST00000216185;ENST00000403313	T;T	0.13657	2.57;2.57	5.59	1.16	0.20824	5.59	1.16	0.20824	Thioredoxin-like fold (1);	0.194220	0.42294	N	0.000734	T	0.13670	0.0331	M	0.66939	2.045	0.33751	D	0.620594	D	0.58620	0.983	B	0.43052	0.406	T	0.23976	-1.0173	10	0.46703	T	0.11	-13.0814	5.2403	0.15467	0.0:0.5432:0.1382:0.3186	.	50	Q99757	THIOM_HUMAN	Q	50	ENSP00000216185:R50Q;ENSP00000385393:R50Q	ENSP00000216185:R50Q	R	-	2	0	0	TXN2	35206682	35206682	0.912000	0.30974	0.969000	0.41365	0.090000	0.18270	2.182000	0.42556	0.343000	0.23821	-0.355000	0.07637	CGG		0.552	TXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319016.1		77.665512	-37	-37	73	73	NM_012473		25	78.029008	78.029008	35	0.416667	0	0	0	1	0	25	35	0.416667
COL5A1	1289	broad.mit.edu	37	9	137697060	137697060	+	Splice_Site	SNP	G	G	A	rs372844807		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:137697060G>A	ENST00000371817.3	+	41	3672	c.3258G>A	c.(3256-3258)gcG>gcA	p.A1086A		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1086	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CAGGCCCTGCGGTGAGTCAAA	0.602																																						ENST00000371817.3											0			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(3256-3258)gcG>gcA	collagen, type V, alpha 1	G		1,4405	2.1+/-5.4	0,1,2202	80.0	79.0	79.0		3258	3.2	1.0	9		79	0,8600		0,0,4300	no	coding-synonymous-near-splice	COL5A1	NM_000093.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1086/1839	137697060	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	1289			axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137697060G>A	D90279	D90279	CCDS6982.1, CCDS75932.1	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			2014-09-17			ENSG00000130635	ENSG00000130635	ENSG00000130635	ENSG00000130635		"""Collagens"""	"""Collagens"""	2209	2209	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	"""alpha 1 type V collagen"""	120215	120215						1572660	1572660	Standard	Standard	NM_001278074	NM_001278074		Approved		uc031tfl.1	uc031tfl.1	P20908	P20908	OTTHUMG00000020891	OTTHUMG00000020891	ENST00000371817.3:c.3258+1G>A	9.37:g.137697060G>A				p.A1086A	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	41	3672	+		Myeloproliferative disorder(178;0.0341)	1086	Triple-helical region.	Q15094|Q5SUX4	Splice_Site	SNP	ENST00000371817.3	37	c.3258G>A	CCDS6982.1																																																																																									0.602	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2		62.023428	-6	-6	59	59	NM_000093	Silent	19	62.045121	62.045121	21	0.475000	0	0	0	1	0	19	21	0.475
MAP3K19	80122	broad.mit.edu	37	2	135738851	135738851	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:135738851G>A	ENST00000375845.3	-	9	3490	c.3460C>T	c.(3460-3462)Cgt>Tgt	p.R1154C	MAP3K19_ENST00000315513.3_Missense_Mutation_p.R15C|MAP3K19_ENST00000375844.3_Missense_Mutation_p.R336C|MAP3K19_ENST00000358371.4_Missense_Mutation_p.R1041C|MAP3K19_ENST00000392918.3_Missense_Mutation_p.R288C|MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000392917.3_Missense_Mutation_p.R286C	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	1154	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										GGCCCAAAACGGTTTATAATA	0.418																																						ENST00000375845.3											0										c.(3460-3462)Cgt>Tgt	mitogen-activated protein kinase kinase kinase 19						120.0	118.0	119.0					2																	135738851		2203	4300	6503	SO:0001583	missense	80122						g.chr2:135738851G>A	AK026727	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	26249	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4	"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	12477932	Standard	Standard	NM_001282883	NM_001282883		Approved	FLJ23074	uc002tue.1	uc002tue.1	Q56UN5	Q56UN5	OTTHUMG00000074083	OTTHUMG00000074083	ENST00000375845.3:c.3460C>T	2.37:g.135738851G>A	ENSP00000365005:p.Arg1154Cys		MAP3K19_ENST00000392918.3_Missense_Mutation_p.R288C|MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000392917.3_Missense_Mutation_p.R286C|MAP3K19_ENST00000375844.3_Missense_Mutation_p.R336C|MAP3K19_ENST00000315513.3_Missense_Mutation_p.R15C|MAP3K19_ENST00000358371.4_Missense_Mutation_p.R1041C	p.R1154C	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3					9	3490	-					B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.3460C>T	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441430	0.63067	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000375844;ENST00000392918;ENST00000392917;ENST00000437365;ENST00000315513	T;T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.75	5.75	0.90469	5.75	5.75	0.90469	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.47093	D	0.000250	D	0.86272	0.5893	M	0.91354	3.2	0.46798	D	0.999206	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.981;0.996;0.99;0.99;0.999	D	0.88535	0.3105	10	0.72032	D	0.01	.	18.9458	0.92621	0.0:0.0:1.0:0.0	.	286;1041;288;336;1154	B7ZMH9;Q56UN5-3;Q56UN5-4;Q56UN5-5;Q56UN5	.;.;.;.;YSK4_HUMAN	C	1154;1041;336;288;286;544;15	ENSP00000365005:R1154C;ENSP00000351140:R1041C;ENSP00000365004:R336C;ENSP00000376650:R288C;ENSP00000376649:R286C;ENSP00000392827:R544C;ENSP00000321160:R15C	ENSP00000321160:R15C	R	-	1	0	0	YSK4	135455321	135455321	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	4.931000	0.63469	2.714000	0.92807	0.563000	0.77884	CGT		0.418	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1		143.703909	-39	-39	98	98	NM_025052		44	143.727027	143.727027	41	0.517647	0	0	0	1	0	44	41	0.517647
HSPG2	3339	broad.mit.edu	37	1	22176662	22176662	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:22176662G>A	ENST00000374695.3	-	57	7397	c.7318C>T	c.(7318-7320)Cgg>Tgg	p.R2440W	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2440	Ig-like C2-type 10.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GACTCGATCCGGACCGTGGGG	0.637																																						ENST00000374695.3											0			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(7318-7320)Cgg>Tgg	heparan sulfate proteoglycan 2						45.0	50.0	48.0					1																	22176662		2203	4300	6503	SO:0001583	missense	3339			angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22176662G>A	M85289	M85289	CCDS30625.1	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	5273	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	"""perlecan proteoglycan"""	142461	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	1685141, 11941538	Standard	Standard	XM_005245863	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	uc001bfj.3	P98160	P98160	OTTHUMG00000002674	OTTHUMG00000002674	ENST00000374695.3:c.7318C>T	1.37:g.22176662G>A	ENSP00000363827:p.Arg2440Trp		HSPG2_ENST00000430507.1_3'UTR	p.R2440W	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	57	7397	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	2440	Ig-like C2-type 10.	Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.7318C>T	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844619	0.71488	.	.	ENSG00000142798	ENST00000374695	T	0.15487	2.42	5.29	4.29	0.51040	5.29	4.29	0.51040	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.34725	N	0.003728	T	0.43942	0.1270	M	0.83603	2.65	0.47584	D	0.99946	D;D	0.89917	1.0;1.0	D;D	0.72982	0.978;0.979	T	0.47787	-0.9090	10	0.66056	D	0.02	.	14.2236	0.65843	0.0:0.0:0.8404:0.1596	.	380;2440	Q59EG0;P98160	.;PGBM_HUMAN	W	2440	ENSP00000363827:R2440W	ENSP00000363827:R2440W	R	-	1	2	2	HSPG2	22049249	22049249	0.919000	0.31177	1.000000	0.80357	0.875000	0.50365	1.513000	0.35823	2.478000	0.83669	0.561000	0.74099	CGG		0.637	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1		29.605460	-15	-15	58	58	NM_005529		11	31.930212	31.930212	32	0.255814	0	0	0	1	0	11	32	0.255814
CDCP2	200008	broad.mit.edu	37	1	54610386	54610386	+	Silent	SNP	G	G	A	rs150004831		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:54610386G>A	ENST00000371330.1	-	2	1027	c.180C>T	c.(178-180)atC>atT	p.I60I	RP11-446E24.4_ENST00000525949.1_5'UTR|RP11-446E24.4_ENST00000311841.7_3'UTR	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	60	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						CGGCCACCACGATCAGCCAGC	0.557																																						ENST00000371330.1											0			kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						c.(178-180)atC>atT	CUB domain containing protein 2	G		1,4405	2.1+/-5.4	0,1,2202	95.0	78.0	84.0		180	-2.2	1.0	1	dbSNP_134	84	0,8600		0,0,4300	no	coding-synonymous	CDCP2	NM_201546.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		60/450	54610386	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	200008				extracellular region		g.chr1:54610386G>A			CCDS588.2	CCDS588.2	1p32.3	2011-02-10			2011-02-10			ENSG00000157211	ENSG00000157211	ENSG00000157211	ENSG00000157211				27297	27297	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612320	612320						12477932	12477932	Standard	Standard	NM_201546	NM_201546		Approved		uc001cwv.2	uc001cwv.2	Q5VXM1	Q5VXM1	OTTHUMG00000155307	OTTHUMG00000155307	ENST00000371330.1:c.180C>T	1.37:g.54610386G>A			RP11-446E24.4_ENST00000311841.7_3'UTR|RP11-446E24.4_ENST00000525949.1_5'UTR	p.I60I	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN			2	1027	-			60	CUB 1.	Q6ZWJ3	Silent	SNP	ENST00000371330.1	37	c.180C>T	CCDS588.2																																																																																									0.557	CDCP2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000022209.2		31.050285	-1	-1	29	29	NM_201546		10	31.061722	31.061722	9	0.526316	0	0	0	1	0	10	9	0.526316
GIT1	28964	broad.mit.edu	37	17	27902157	27902157	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:27902157G>A	ENST00000225394.3	-	19	2261	c.2013C>T	c.(2011-2013)ttC>ttT	p.F671F	GIT1_ENST00000394869.3_Silent_p.F680F|GIT1_ENST00000581348.1_Silent_p.F657F|GIT1_ENST00000579937.1_Silent_p.F671F|RP11-68I3.2_ENST00000581474.1_RNA	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	671	Interaction with PXN and TGFB1I1. {ECO:0000250}.				regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		AGCAGGGCACGAAGCTGCGGG	0.607																																					Colon(81;41 1719 20078 35068)	ENST00000225394.3											0			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(2011-2013)ttC>ttT	G protein-coupled receptor kinase interacting ArfGAP 1						69.0	70.0	70.0					17																	27902157		2203	4300	6503	SO:0001819	synonymous_variant	28964			regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr17:27902157G>A	AF124490	AF124490	CCDS11250.1, CCDS42290.1	CCDS11250.1, CCDS42290.1	17p11.2	2013-01-10	2008-09-05		2013-01-10	2008-09-05		ENSG00000108262	ENSG00000108262	ENSG00000108262	ENSG00000108262		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4272	4272	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608434	608434	"""G protein-coupled receptor kinase interactor 1"""		"""G protein-coupled receptor kinase interactor 1"""			9826657, 10896954	9826657, 10896954	Standard	Standard	NM_014030	NM_014030		Approved		uc002heg.2	uc002heg.2	Q9Y2X7	Q9Y2X7	OTTHUMG00000132730	OTTHUMG00000132730	ENST00000225394.3:c.2013C>T	17.37:g.27902157G>A			GIT1_ENST00000579937.1_Silent_p.F671F|GIT1_ENST00000394869.3_Silent_p.F680F|GIT1_ENST00000581348.1_Silent_p.F657F|RP11-68I3.2_ENST00000581474.1_RNA	p.F671F	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN		READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)	19	2261	-			671	Interaction with PXN and TGFB1I1 (By similarity).	B4DGU9|B4DSV3|Q86SS0|Q9BRJ4	Silent	SNP	ENST00000225394.3	37	c.2013C>T	CCDS11250.1																																																																																									0.607	GIT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256073.1		45.886716	4	4	78	78	NM_014030		16	46.826616	46.826616	30	0.347826	0	0	0	1	0	16	30	0.347826
THSD1	55901	broad.mit.edu	37	13	52952669	52952669	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr13:52952669G>A	ENST00000258613.4	-	5	1614	c.1436C>T	c.(1435-1437)tCg>tTg	p.S479L	THSD1_ENST00000349258.4_Missense_Mutation_p.S426L|THSD1_ENST00000544466.1_Missense_Mutation_p.S100L	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	479					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		TCCCCCATCCGAGAAGCTCCC	0.652																																						ENST00000349258.4											0			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1276-1278)tCg>tTg	thrombospondin, type I, domain containing 1						45.0	51.0	49.0					13																	52952669		2203	4300	6503	SO:0001583	missense	55901				extracellular region|integral to membrane|intracellular membrane-bounded organelle		g.chr13:52952669G>A	AK096289	AK096289	CCDS9432.1, CCDS9433.1	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114	ENSG00000136114	ENSG00000136114				17754	17754	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""thrombospondin, type I, domain 1"""		"""thrombospondin, type I, domain 1"""					Standard	Standard	NM_018676	NM_018676		Approved	TMTSP	uc001vgo.3	uc001vgo.3	Q9NS62	Q9NS62	OTTHUMG00000016963	OTTHUMG00000016963	ENST00000258613.4:c.1436C>T	13.37:g.52952669G>A	ENSP00000258613:p.Ser479Leu		THSD1_ENST00000258613.4_Missense_Mutation_p.S479L|THSD1_ENST00000544466.1_Missense_Mutation_p.S100L	p.S426L	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN		GBM - Glioblastoma multiforme(99;2.8e-08)	4	1821	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	479		A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	ENST00000258613.4	37	c.1277C>T	CCDS9432.1	.	.	.	.	.	.	.	.	.	.	g	16.22	3.061347	0.55432	.	.	ENSG00000136114	ENST00000349258;ENST00000544466;ENST00000258613	T;T;T	0.47528	1.51;0.84;1.72	6.06	5.22	0.72569	6.06	5.22	0.72569	.	0.069945	0.64402	D	0.000015	T	0.44767	0.1309	M	0.71581	2.175	0.47621	D	0.999472	P;P	0.37525	0.588;0.598	B;B	0.29524	0.103;0.076	T	0.51942	-0.8641	10	0.87932	D	0	-9.7381	12.488	0.55885	0.1382:0.0:0.8618:0.0	.	426;479	Q9NS62-2;Q9NS62	.;THSD1_HUMAN	L	426;100;479	ENSP00000340650:S426L;ENSP00000438512:S100L;ENSP00000258613:S479L	ENSP00000258613:S479L	S	-	2	0	0	THSD1	51850670	51850670	1.000000	0.71417	0.909000	0.35828	0.012000	0.07955	5.899000	0.69846	1.577000	0.49804	0.650000	0.86243	TCG		0.652	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3		38.869962	-6	-6	45	45			13	39.045813	39.045813	18	0.419355	0	0	0	1	0	13	18	0.419355
ZDHHC5	25921	broad.mit.edu	37	11	57466582	57466582	+	Silent	SNP	G	G	A	rs200500149	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:57466582G>A	ENST00000287169.3	+	11	3036	c.1674G>A	c.(1672-1674)ccG>ccA	p.P558P	ZDHHC5_ENST00000527985.1_Silent_p.P505P	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	558					protein palmitoylation (GO:0018345)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						CCCCACTCCCGGGCCGTGAGG	0.592													A|||	9	0.00179712	0.0015	0.0	5008	,	,		20462	0.003		0.0	False		,,,				2504	0.0041					ENST00000287169.3											0			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						c.(1672-1674)ccG>ccA	zinc finger, DHHC-type containing 5	A		1,4401	825.4+/-416.5	0,1,2200	63.0	69.0	67.0		1674	-5.3	0.3	11		67	0,8592		0,0,4296	no	coding-synonymous	ZDHHC5	NM_015457.2		0,1,6496	AA,AG,GG		0.0,0.0227,0.0077		558/716	57466582	1,12993	2201	4296	6497	SO:0001819	synonymous_variant	25921				integral to membrane	acyltransferase activity|zinc ion binding	g.chr11:57466582G>A	AB051535	AB051535	CCDS7965.1	CCDS7965.1	11q13.1	2008-05-02			2008-05-02			ENSG00000156599	ENSG00000156599	ENSG00000156599	ENSG00000156599		"""Zinc fingers, DHHC-type"""	"""Zinc fingers, DHHC-type"""	18472	18472	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614586	614586						11214970	11214970	Standard	Standard	NM_015457	NM_015457		Approved	KIAA1748, ZNF375	uc001nkx.1	uc001nkx.1	Q9C0B5	Q9C0B5	OTTHUMG00000167198	OTTHUMG00000167198	ENST00000287169.3:c.1674G>A	11.37:g.57466582G>A			ZDHHC5_ENST00000527985.1_Silent_p.P505P	p.P558P	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN			11	3036	+			558		Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	Silent	SNP	ENST00000287169.3	37	c.1674G>A	CCDS7965.1																																																																																									0.592	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393694.1		103.973015	17	17	117	117	NM_015457		33	104.001205	104.001205	36	0.478261	0	0	0	1	0	33	36	0.478261
KLHL26	55295	broad.mit.edu	37	19	18778890	18778890	+	Missense_Mutation	SNP	G	G	A	rs148044384		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:18778890G>A	ENST00000300976.4	+	3	773	c.683G>A	c.(682-684)cGc>cAc	p.R228H	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	228	BACK.									breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GACCTGTTCCGCGCGGCCGTC	0.687																																						ENST00000300976.4											0			breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(682-684)cGc>cAc	kelch-like family member 26	G	HIS/ARG	1,4405		0,1,2202	31.0	31.0	31.0		683	0.0	0.2	19	dbSNP_134	31	0,8594		0,0,4297	no	missense	KLHL26	NM_018316.1	29	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	benign	228/616	18778890	1,12999	2203	4297	6500	SO:0001583	missense	55295						g.chr19:18778890G>A			CCDS12384.1	CCDS12384.1	19p13.11	2013-10-15	2013-02-22		2013-10-15	2013-02-22		ENSG00000167487	ENSG00000167487	ENSG00000167487	ENSG00000167487		"""Kelch-like"", ""BTB/POZ domain containing"""	"""Kelch-like"", ""BTB/POZ domain containing"""	25623	25623	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""kelch-like 26 (Drosophila)"""		"""kelch-like 26 (Drosophila)"""					Standard	Standard	XM_006722785	XM_006722785		Approved		uc002njz.1	uc002njz.1	Q53HC5	Q53HC5	OTTHUMG00000183114	OTTHUMG00000183114	ENST00000300976.4:c.683G>A	19.37:g.18778890G>A	ENSP00000300976:p.Arg228His		KLHL26_ENST00000599006.1_Intron	p.R228H	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN			3	773	+			228	BACK.	Q8TAP0|Q9NUX3	Missense_Mutation	SNP	ENST00000300976.4	37	c.683G>A	CCDS12384.1	.	.	.	.	.	.	.	.	.	.	G	0.987	-0.695228	0.03303	2.27E-4	0.0	ENSG00000167487	ENST00000300976	T	0.68903	-0.36	5.04	0.0318	0.14172	5.04	0.0318	0.14172	BTB/Kelch-associated (2);	0.315983	0.35207	N	0.003378	T	0.31734	0.0806	N	0.02120	-0.675	0.32269	N	0.569086	B	0.06786	0.001	B	0.06405	0.002	T	0.26326	-1.0106	9	.	.	.	.	8.1212	0.30971	0.448:0.0:0.552:0.0	.	228	Q53HC5	KLH26_HUMAN	H	228	ENSP00000300976:R228H	.	R	+	2	0	0	KLHL26	18639890	18639890	0.018000	0.18449	0.188000	0.23233	0.110000	0.19582	0.301000	0.19174	0.077000	0.16863	0.591000	0.81541	CGC		0.687	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465145.1		49.771245	-11	-11	45	45	NM_018316		17	49.77751	49.777510	18	0.485714	0	0	0	1	0	17	18	0.485714
GGA1	26088	broad.mit.edu	37	22	38013030	38013030	+	Intron	SNP	G	G	A	rs367961742		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr22:38013030G>A	ENST00000343632.4	+	3	590				GGA1_ENST00000325180.8_Intron|GGA1_ENST00000381756.5_Missense_Mutation_p.R77H|GGA1_ENST00000337437.4_Intron|GGA1_ENST00000414350.3_Missense_Mutation_p.R77H|GGA1_ENST00000405147.3_Intron|GGA1_ENST00000406772.1_Intron	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1						intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					GCCACCATCCGTCCCCCGCCA	0.627													A|||	1	0.000199681	0.0008	0.0	5008	,	,		17786	0.0		0.0	False		,,,				2504	0.0					ENST00000381756.5											0			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10						c.(229-231)cGt>cAt	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	A	,HIS/ARG,,,	7,4393		0,7,2193	47.0	47.0	47.0		,230,,,	-3.1	0.0	22		47	0,8588		0,0,4294	yes	intron,missense,intron,intron,intron	GGA1	NM_001001560.2,NM_001001561.2,NM_001172687.1,NM_001172688.1,NM_013365.4	,29,,,	0,7,6487	AA,AG,GG		0.0,0.1591,0.0539	,,,,	,77/90,,,	38013030	7,12981	2200	4294	6494	SO:0001627	intron_variant	26088			intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding	g.chr22:38013030G>A	AF190862	AF190862	CCDS13951.1, CCDS33643.1, CCDS54526.1	CCDS13951.1, CCDS33643.1, CCDS54526.1	22q13.31	2010-02-12	2010-02-12		2010-02-12	2010-02-12		ENSG00000100083	ENSG00000100083	ENSG00000100083	ENSG00000100083				17842	17842	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606004	606004						10747088, 10747089, 16407204	10747088, 10747089, 16407204	Standard	Standard	NM_013365	NM_013365		Approved		uc003atc.3	uc003atc.3	Q9UJY5	Q9UJY5	OTTHUMG00000030985	OTTHUMG00000030985	ENST00000343632.4:c.204+26G>A	22.37:g.38013030G>A			GGA1_ENST00000325180.8_Intron|GGA1_ENST00000337437.4_Intron|GGA1_ENST00000343632.4_Intron|GGA1_ENST00000406772.1_Intron|GGA1_ENST00000414350.3_Missense_Mutation_p.R77H|GGA1_ENST00000405147.3_Intron	p.R77H			Q9UJY5	GGA1_HUMAN			3	366	+	Melanoma(58;0.0574)		69	VHS.	A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1	Missense_Mutation	SNP	ENST00000343632.4	37	c.230G>A	CCDS13951.1	.	.	.	.	.	.	.	.	.	.	A	11.15	1.553170	0.27739	0.001591	0.0	ENSG00000100083	ENST00000414350;ENST00000381756	T	0.18016	2.24	3.72	-3.1	0.05315	3.72	-3.1	0.05315	.	3.014390	0.01323	N	0.010992	T	0.09158	0.0226	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21518	-1.0243	8	.	.	.	20.4463	4.4418	0.11577	0.2843:0.0:0.4628:0.253	.	77	Q8NCS6	.	H	77	ENSP00000371175:R77H	.	R	+	2	0	0	GGA1	36342976	36342976	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.498000	0.06420	-0.516000	0.06470	-0.939000	0.02691	CGT		0.627	GGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075873.3		6.451906	-2	-2	9	9	NM_013365		2	6.524597	6.524597	1	0.666667	0	0	0	1	0	2	1	0.666667
LRRC8A	56262	broad.mit.edu	37	9	131670351	131670351	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:131670351C>T	ENST00000259324.5	+	3	1431	c.908C>T	c.(907-909)aCg>aTg	p.T303M	LRRC8A_ENST00000372599.3_Missense_Mutation_p.T303M|LRRC8A_ENST00000372600.4_Missense_Mutation_p.T303M	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	303					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						GAGAGCCTGACGGGCTACCGC	0.547																																						ENST00000259324.5											0			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						c.(907-909)aCg>aTg	leucine rich repeat containing 8 family, member A						240.0	182.0	202.0					9																	131670351		2203	4300	6503	SO:0001583	missense	56262			pre-B cell differentiation	integral to membrane		g.chr9:131670351C>T	AB037858	AB037858	CCDS35155.1	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802	ENSG00000136802	ENSG00000136802				19027	19027	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608360	608360	"""leucine rich repeat containing 8"""	LRRC8	"""leucine rich repeat containing 8"""	LRRC8				Standard	Standard	NM_001127244	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	uc010myp.3	Q8IWT6	Q8IWT6	OTTHUMG00000020766	OTTHUMG00000020766	ENST00000259324.5:c.908C>T	9.37:g.131670351C>T	ENSP00000259324:p.Thr303Met		LRRC8A_ENST00000372599.3_Missense_Mutation_p.T303M|LRRC8A_ENST00000372600.4_Missense_Mutation_p.T303M	p.T303M	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN			3	1431	+			303		Q6UXM2|Q8NCI0|Q9P2B1	Missense_Mutation	SNP	ENST00000259324.5	37	c.908C>T	CCDS35155.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.956518	0.53293	.	.	ENSG00000136802	ENST00000372600;ENST00000372599;ENST00000259324	T;T;T	0.52983	0.64;0.64;0.64	5.09	5.09	0.68999	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.70272	0.3205	M	0.78456	2.415	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	T	0.73597	-0.3932	10	0.56958	D	0.05	.	17.4817	0.87674	0.0:1.0:0.0:0.0	.	303	Q8IWT6	LRC8A_HUMAN	M	303	ENSP00000361682:T303M;ENSP00000361680:T303M;ENSP00000259324:T303M	ENSP00000259324:T303M	T	+	2	0	0	LRRC8A	130710172	130710172	1.000000	0.71417	0.993000	0.49108	0.960000	0.62799	7.818000	0.86416	2.365000	0.80145	0.462000	0.41574	ACG		0.547	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2		115.041408	-1	-1	85	85	NM_019594		38	115.206988	115.206988	46	0.452381	0	0	0	1	0	38	46	0.452381
SBF1	6305	broad.mit.edu	37	22	50899059	50899059	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr22:50899059G>A	ENST00000390679.3	-	24	3234	c.3050C>T	c.(3049-3051)cCg>cTg	p.P1017L	SBF1_ENST00000380817.3_Missense_Mutation_p.P1017L|SBF1_ENST00000348911.6_Missense_Mutation_p.P1018L			O95248	MTMR5_HUMAN	SET binding factor 1	1017					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GATGTCCGGCGGGTACCGCAG	0.602																																						ENST00000380817.3											0			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(3049-3051)cCg>cTg	SET binding factor 1						91.0	99.0	96.0					22																	50899059		2053	4186	6239	SO:0001583	missense	6305			protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50899059G>A	U93181	U93181	CCDS14091.1, CCDS14091.2	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			2013-01-10			ENSG00000100241	ENSG00000100241	ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	10542	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560	603560						9537414, 9736772	9537414, 9736772	Standard	Standard	NM_002972	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	uc003blh.3	O95248	O95248	OTTHUMG00000150204	OTTHUMG00000150204	ENST00000390679.3:c.3050C>T	22.37:g.50899059G>A	ENSP00000375097:p.Pro1017Leu		SBF1_ENST00000390679.3_Missense_Mutation_p.P1017L|SBF1_ENST00000348911.6_Missense_Mutation_p.P1018L	p.P1017L	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	24	3233	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)			A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.3050C>T		.	.	.	.	.	.	.	.	.	.	G	15.91	2.973524	0.53720	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000337034;ENST00000390679	D;D;D	0.89415	-2.51;-2.51;-2.51	4.47	4.47	0.54385	4.47	4.47	0.54385	.	0.061206	0.64402	D	0.000003	D	0.94248	0.8153	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.935;0.999	D	0.95181	0.8299	10	0.87932	D	0	.	16.711	0.85385	0.0:0.0:1.0:0.0	.	1017;1017	O95248;O95248-4	MTMR5_HUMAN;.	L	1017;1018;1027;1017	ENSP00000370196:P1017L;ENSP00000252027:P1018L;ENSP00000375097:P1017L	ENSP00000336522:P1027L	P	-	2	0	0	SBF1	49245925	49245925	1.000000	0.71417	0.899000	0.35326	0.199000	0.23934	6.301000	0.72782	2.027000	0.59764	0.467000	0.42956	CCG		0.602	SBF1-201	KNOWN	basic	protein_coding	protein_coding			48.525240	-7	-7	144	144			18	52.608843	52.608843	54	0.250000	0	0	0	1	0	18	54	0.25
CXCR2P1	3580	broad.mit.edu	37	2	218925542	218925542	+	RNA	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:218925542C>T	ENST00000439871.1	-	0	838					NR_002712.1				chemokine (C-X-C motif) receptor 2 pseudogene 1																		TGTATTGTTGCCCATGTCCTC	0.517																																						ENST00000439871.1											0																																																0						g.chr2:218925542C>T	M98335	M98335			2q35	2012-05-02	2010-04-14	2010-04-14	2012-05-02	2010-04-14	2010-04-14	ENSG00000229754	ENSG00000229754	ENSG00000229754	ENSG00000229754				6028	6028	pseudogene	pseudogene	pseudogene	pseudogene					"""interleukin 8 receptor, beta pseudogene"", ""chemokine (C-X-C motif) receptor 2 pseudogene"""	IL8RBP, CXCR2P	"""interleukin 8 receptor, beta pseudogene"", ""chemokine (C-X-C motif) receptor 2 pseudogene"""	IL8RBP, CXCR2P		1427896, 1303245	1427896, 1303245	Standard	Standard	NR_002712	NR_002712		Approved		uc002vgx.3	uc002vgx.3			OTTHUMG00000155244	OTTHUMG00000155244		2.37:g.218925542C>T					NR_002712.1						0	838	-						RNA	SNP	ENST00000439871.1	37																																																																																											0.517	CXCR2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338985.1		18.210568	-2	-2	47	47	NR_002712		7	19.97982	19.979820	22	0.241379	0	0	0	1	0	7	22	0.241379
MYCBPAP	84073	broad.mit.edu	37	17	48597028	48597028	+	Nonsense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:48597028C>T	ENST00000323776.5	+	7	1087	c.925C>T	c.(925-927)Cga>Tga	p.R309*	MYCBPAP_ENST00000436259.2_Nonsense_Mutation_p.R272*|MYCBPAP_ENST00000468821.1_3'UTR	NM_032133.4	NP_115509.4			MYCBP associated protein											breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GTTCTGGAGTCGACTGGAATA	0.532																																						ENST00000323776.5											0			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31						c.(925-927)Cga>Tga	MYCBP associated protein						90.0	81.0	84.0					17																	48597028		2203	4300	6503	SO:0001587	stop_gained	84073			cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding	g.chr17:48597028C>T	BC028393	BC028393	CCDS32680.2	CCDS32680.2	17q21.33	2004-02-19			2004-02-19			ENSG00000136449	ENSG00000136449	ENSG00000136449	ENSG00000136449				19677	19677	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609835	609835						12151104	12151104	Standard	Standard	NM_032133	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	uc010wmr.2	Q8TBZ2	Q8TBZ2	OTTHUMG00000157184	OTTHUMG00000157184	ENST00000323776.5:c.925C>T	17.37:g.48597028C>T	ENSP00000323184:p.Arg309*		MYCBPAP_ENST00000468821.1_3'UTR|MYCBPAP_ENST00000436259.2_Nonsense_Mutation_p.R272*	p.R309*	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.23e-09)		7	1087	+	Breast(11;1.23e-18)		272			Nonsense_Mutation	SNP	ENST00000323776.5	37	c.925C>T	CCDS32680.2	.	.	.	.	.	.	.	.	.	.	C	36	5.838983	0.97009	.	.	ENSG00000136449	ENST00000323776;ENST00000436259	.	.	.	5.86	5.86	0.93980	5.86	5.86	0.93980	.	0.756894	0.12151	N	0.494885	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	0.0517	9.8612	0.41116	0.0:0.7871:0.1406:0.0723	.	.	.	.	X	309;272	.	ENSP00000323184:R309X	R	+	1	2	2	MYCBPAP	45952027	45952027	0.082000	0.21442	0.886000	0.34754	0.931000	0.56810	2.335000	0.43929	2.775000	0.95449	0.563000	0.77884	CGA		0.532	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347814.1		11.359220	7	7	65	65	NM_032133		5	13.86778	13.867780	22	0.185185	0	0	0	1	0	5	22	0.185185
SRSF4	6429	broad.mit.edu	37	1	29475634	29475634	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:29475634C>T	ENST00000373795.4	-	6	1007	c.773G>A	c.(772-774)cGc>cAc	p.R258H	SRSF4_ENST00000546138.1_Silent_p.P156P|RP11-242O24.3_ENST00000413004.1_lincRNA|SRSF4_ENST00000466448.1_5'UTR	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	258	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						GCTATGGCTGCGGCTGCGGCT	0.597																																						ENST00000373795.4											0			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						c.(772-774)cGc>cAc	serine/arginine-rich splicing factor 4						133.0	148.0	143.0					1																	29475634		2203	4300	6503	SO:0001583	missense	6429			mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding	g.chr1:29475634C>T	BC002781	BC002781	CCDS333.1	CCDS333.1	1p35.3	2013-02-12	2010-06-22	2010-06-22	2013-02-12	2010-06-22	2010-06-22	ENSG00000116350	ENSG00000116350	ENSG00000116350	ENSG00000116350		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10786	10786	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""SR splicing factor 4"""	"""SR splicing factor 4"""	601940	601940	"""splicing factor, arginine/serine-rich 4"""	SFRS4	"""splicing factor, arginine/serine-rich 4"""	SFRS4		8321209, 20516191	8321209, 20516191	Standard	Standard	NM_005626	NM_005626		Approved	SRP75	uc001bro.3	uc001bro.3	Q08170	Q08170	OTTHUMG00000003663	OTTHUMG00000003663	ENST00000373795.4:c.773G>A	1.37:g.29475634C>T	ENSP00000362900:p.Arg258His		SRSF4_ENST00000546138.1_Silent_p.P156P|SRSF4_ENST00000466448.1_5'UTR	p.R258H	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN			6	1007	-			258	Arg/Ser-rich (RS domain).	Q5VXP1|Q9BUA4|Q9UEB5	Missense_Mutation	SNP	ENST00000373795.4	37	c.773G>A	CCDS333.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.679701	0.47886	.	.	ENSG00000116350	ENST00000373795;ENST00000434636	T	0.16897	2.31	5.62	5.62	0.85841	5.62	5.62	0.85841	.	0.230484	0.38548	N	0.001647	T	0.33469	0.0864	L	0.48642	1.525	0.80722	D	1	D	0.71674	0.998	P	0.59487	0.858	T	0.00787	-1.1566	10	0.52906	T	0.07	.	18.6474	0.91416	0.0:1.0:0.0:0.0	.	258	Q08170	SRSF4_HUMAN	H	258	ENSP00000362900:R258H	ENSP00000362900:R258H	R	-	2	0	0	SRSF4	29348221	29348221	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	2.380000	0.44327	2.653000	0.90120	0.655000	0.94253	CGC		0.597	SRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010392.1		329.327359	-94	-94	214	214	NM_005626		106	329.90029	329.900290	131	0.447257	0	0	0	1	0	106	131	0.447257
RBL1	5933	broad.mit.edu	37	20	35635830	35635830	+	Missense_Mutation	SNP	G	G	A	rs374029496		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr20:35635830G>A	ENST00000373664.3	-	20	2921	c.2855C>T	c.(2854-2856)gCg>gTg	p.A952V	RBL1_ENST00000344359.3_Missense_Mutation_p.A952V	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	952					chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				GTCCTGATTCGCCAAGTCGTA	0.323																																						ENST00000373664.3											0			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42						c.(2854-2856)gCg>gTg	retinoblastoma-like 1 (p107)	G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	136.0	131.0	133.0		2855,2855	5.3	1.0	20		133	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RBL1	NM_183404.1,NM_002895.2	64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	952/1015,952/1069	35635830	1,13005	2203	4300	6503	SO:0001583	missense	5933			cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	g.chr20:35635830G>A	L14812	L14812	CCDS13289.1, CCDS13290.1	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839	ENSG00000080839	ENSG00000080839				9893	9893	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			116957	116957						1833063	1833063	Standard	Standard	NM_183404	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	uc002xgi.3	P28749	P28749	OTTHUMG00000032406	OTTHUMG00000032406	ENST00000373664.3:c.2855C>T	20.37:g.35635830G>A	ENSP00000362768:p.Ala952Val		RBL1_ENST00000344359.3_Missense_Mutation_p.A952V	p.A952V	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN			20	2921	-		Myeloproliferative disorder(115;0.00878)	952		A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Missense_Mutation	SNP	ENST00000373664.3	37	c.2855C>T	CCDS13289.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.621766	0.66787	0.0	1.16E-4	ENSG00000080839	ENST00000373664;ENST00000344359	T;T	0.51071	0.72;0.72	5.29	5.29	0.74685	5.29	5.29	0.74685	Cyclin-like (2);	0.303746	0.30302	N	0.009927	T	0.38825	0.1055	L	0.27053	0.805	0.22754	N	0.998774	B;B	0.25719	0.132;0.109	B;B	0.24269	0.049;0.052	T	0.20840	-1.0263	10	0.34782	T	0.22	-7.4906	19.1061	0.93296	0.0:0.0:1.0:0.0	.	952;952	P28749-2;P28749	.;RBL1_HUMAN	V	952	ENSP00000362768:A952V;ENSP00000343646:A952V	ENSP00000343646:A952V	A	-	2	0	0	RBL1	35069244	35069244	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.882000	0.87258	2.752000	0.94435	0.585000	0.79938	GCG		0.323	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2		17.709772	-9	-9	54	54	NM_002895		7	19.662332	19.662332	23	0.233333	0	0	0	1	0	7	23	0.233333
TAS1R2	80834	broad.mit.edu	37	1	19181079	19181079	+	Silent	SNP	G	G	A	rs148401055		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:19181079G>A	ENST00000375371.3	-	3	906	c.885C>T	c.(883-885)ggC>ggT	p.G295G	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	295					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)	p.G295G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	TCCACACGGCGCCAGTGAAGT	0.632																																						ENST00000375371.3											1	Substitution - coding silent(1)	breast(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45						c.(883-885)ggC>ggT	taste receptor, type 1, member 2	G		0,4406		0,0,2203	55.0	53.0	53.0		885	1.9	0.0	1	dbSNP_134	53	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TAS1R2	NM_152232.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		295/840	19181079	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80834			detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19181079G>A			CCDS187.1	CCDS187.1	1p36.13	2012-08-22	2003-03-07		2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002	ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	14905	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606226	606226	"""G protein-coupled receptor 71"""	GPR71	"""G protein-coupled receptor 71"""	GPR71				Standard	Standard	NM_152232	NM_152232		Approved	T1R2, TR2	uc001bba.1	uc001bba.1	Q8TE23	Q8TE23	OTTHUMG00000002442	OTTHUMG00000002442	ENST00000375371.3:c.885C>T	1.37:g.19181079G>A			RP13-279N23.2_ENST00000494072.3_3'UTR	p.G295G	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	3	906	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	295		Q5TZ19	Silent	SNP	ENST00000375371.3	37	c.885C>T	CCDS187.1																																																																																									0.632	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1		19.721867	-17	-17	28	28			7	19.736468	19.736468	8	0.466667	0	0	0	1	0	7	8	0.466667
LRP8	7804	broad.mit.edu	37	1	53742398	53742398	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:53742398G>A	ENST00000306052.6	-	5	950	c.849C>T	c.(847-849)cgC>cgT	p.R283R	LRP8_ENST00000371454.2_Silent_p.R283R|LRP8_ENST00000354412.3_Intron|LRP8_ENST00000347547.2_Intron|LRP8_ENST00000465675.1_Intron	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	283	LDL-receptor class A 6. {ECO:0000255|PROSITE-ProRule:PRU00124}.				ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						CTTTGCAGTCGCGGTCGCCGT	0.731																																						ENST00000306052.6											0			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						c.(847-849)cgC>cgT	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor						8.0	5.0	6.0					1																	53742398		1817	3584	5401	SO:0001819	synonymous_variant	7804			cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity	g.chr1:53742398G>A	D50678	D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			2013-05-29			ENSG00000157193	ENSG00000157193	ENSG00000157193	ENSG00000157193		"""Low density lipoprotein receptors"""	"""Low density lipoprotein receptors"""	6700	6700	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602600	602600						8626535, 9079678	8626535, 9079678	Standard	Standard	NM_004631	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	uc001cvi.2	Q14114	Q14114	OTTHUMG00000008924	OTTHUMG00000008924	ENST00000306052.6:c.849C>T	1.37:g.53742398G>A			LRP8_ENST00000354412.3_Intron|LRP8_ENST00000371454.2_Silent_p.R283R|LRP8_ENST00000347547.2_Intron|LRP8_ENST00000465675.1_Intron	p.R283R	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN			5	950	-			283	LDL-receptor class A 6.	B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Silent	SNP	ENST00000306052.6	37	c.849C>T	CCDS578.1																																																																																									0.731	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024699.1		7.676970	4	4	9	9	NM_004631		2	7.453751	7.453751	0	1.000000	0	0	0	1	0	2	0	1.0
RRNAD1	51093	broad.mit.edu	37	1	156703898	156703898	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:156703898C>T	ENST00000368216.4	+	6	1364	c.734C>T	c.(733-735)cCg>cTg	p.P245L	RRNAD1_ENST00000476229.1_Intron|RRNAD1_ENST00000368218.4_Intron	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	245						integral component of membrane (GO:0016021)	rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						CTGGAGAACCCGTGTCAGGGC	0.622																																						ENST00000368216.4											0			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						c.(733-735)cCg>cTg	ribosomal RNA adenine dimethylase domain containing 1						71.0	71.0	71.0					1																	156703898		2203	4300	6503	SO:0001583	missense	51093				integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity	g.chr1:156703898C>T	BC011382	BC011382	CCDS1154.1, CCDS44246.1	CCDS1154.1, CCDS44246.1	1q23.1	2011-01-28	2011-01-28	2011-01-28	2011-01-28	2011-01-28	2011-01-28	ENSG00000143303	ENSG00000143303	ENSG00000143303	ENSG00000143303				24273	24273	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""chromosome 1 open reading frame 66"""	C1orf66	"""chromosome 1 open reading frame 66"""	C1orf66		10810093, 310876	10810093, 310876	Standard	Standard	NM_015997	NM_015997		Approved	CGI-41	uc001fpu.3	uc001fpu.3	Q96FB5	Q96FB5	OTTHUMG00000041302	OTTHUMG00000041302	ENST00000368216.4:c.734C>T	1.37:g.156703898C>T	ENSP00000357199:p.Pro245Leu		RRNAD1_ENST00000476229.1_Intron|RRNAD1_ENST00000368218.4_Intron	p.P245L	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN			6	1364	+			245		D3DVC7|Q4VX71|Q5SZ03|Q9Y358	Missense_Mutation	SNP	ENST00000368216.4	37	c.734C>T	CCDS1154.1	.	.	.	.	.	.	.	.	.	.	C	4.524	0.097211	0.08681	.	.	ENSG00000143303	ENST00000368216;ENST00000519086	T	0.45276	0.9	4.76	4.76	0.60689	4.76	4.76	0.60689	.	1.221540	0.05517	N	0.561443	T	0.09862	0.0242	N	0.02973	-0.45	0.27299	N	0.957646	B	0.02656	0.0	B	0.06405	0.002	T	0.16217	-1.0410	10	0.23891	T	0.37	-2.1015	13.1218	0.59331	0.0:1.0:0.0:0.0	.	245	Q96FB5	RRNAD_HUMAN	L	245;224	ENSP00000357199:P245L	ENSP00000357199:P245L	P	+	2	0	0	RRNAD1	154970522	154970522	0.000000	0.05858	0.005000	0.12908	0.241000	0.25554	0.750000	0.26334	2.494000	0.84150	0.561000	0.74099	CCG		0.622	RRNAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098973.1		49.693684	-2	-2	53	53	NM_015997		16	49.967837	49.967837	23	0.410256	0	0	0	1	0	16	23	0.410256
RXRG	6258	broad.mit.edu	37	1	165378811	165378811	+	Missense_Mutation	SNP	C	C	T	rs568135949		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:165378811C>T	ENST00000359842.5	-	7	1332	c.1030G>A	c.(1030-1032)Ggc>Agc	p.G344S	RXRG_ENST00000470566.1_5'Flank	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	344	Ligand-binding. {ECO:0000250}.				gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	AAGATGGAGCCGACCCCAGCA	0.517													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19197	0.0		0.0	False		,,,				2504	0.0					ENST00000359842.5											0			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38						c.(1030-1032)Ggc>Agc	retinoid X receptor, gamma						88.0	72.0	78.0					1																	165378811		2203	4300	6503	SO:0001583	missense	6258			regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr1:165378811C>T	U38480	U38480	CCDS1248.1, CCDS72970.1	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			2013-01-16			ENSG00000143171	ENSG00000143171	ENSG00000143171	ENSG00000143171		"""Nuclear hormone receptors"""	"""Nuclear hormone receptors"""	10479	10479	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 3"""	"""nuclear receptor subfamily 2 group B member 3"""	180247	180247						8034312	8034312	Standard	Standard	NR_033824	NR_033824		Approved	NR2B3	uc001gda.3	uc001gda.3	P48443	P48443	OTTHUMG00000034626	OTTHUMG00000034626	ENST00000359842.5:c.1030G>A	1.37:g.165378811C>T	ENSP00000352900:p.Gly344Ser			p.G344S	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN			7	1332	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		344	Ligand-binding (By similarity).	A6NIP1|Q6IBU7	Missense_Mutation	SNP	ENST00000359842.5	37	c.1030G>A	CCDS1248.1	.	.	.	.	.	.	.	.	.	.	C	31	5.065622	0.93898	.	.	ENSG00000143171	ENST00000359842	D	0.96265	-3.96	5.08	5.08	0.68730	5.08	5.08	0.68730	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.97676	0.9238	M	0.77712	2.385	0.80722	D	1.000000	D	0.89917	1.0	D	0.97110	1.0	D	0.96886	0.9649	9	0.37606	T	0.19	.	17.222	0.86960	0.0:1.0:0.0:0.0	.	344	P48443	RXRG_HUMAN	S	344	ENSP00000352900:G344S	ENSP00000352900:G344S	G	-	1	0	0	RXRG	163645435	163645435	1.000000	0.71417	0.963000	0.40424	0.998000	0.95712	7.400000	0.79949	2.620000	0.88729	0.655000	0.94253	GGC		0.517	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2		19.150633	-18	-18	11	11	NM_006917		6	19.170391	19.170391	5	0.545455	0	0	0	1	0	6	5	0.545455
SLC27A6	28965	broad.mit.edu	37	5	128363005	128363005	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:128363005C>T	ENST00000262462.4	+	7	2445	c.1435C>T	c.(1435-1437)Cgt>Tgt	p.R479C	SLC27A6_ENST00000506176.1_Missense_Mutation_p.R479C|SLC27A6_ENST00000395266.1_Missense_Mutation_p.R479C			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	479					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TTTTTGGGACCGTACTGGAGA	0.373																																						ENST00000262462.4											0			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44						c.(1435-1437)Cgt>Tgt	solute carrier family 27 (fatty acid transporter), member 6						116.0	107.0	110.0					5																	128363005		2203	4300	6503	SO:0001583	missense	28965			long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128363005C>T	AF064254	AF064254	CCDS4145.1	CCDS4145.1	5q23.3	2013-05-22			2013-05-22			ENSG00000113396	ENSG00000113396	ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	11000	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196	604196						12556534, 10479480	12556534, 10479480	Standard	Standard	XM_005271967	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	uc003kuy.3	Q9Y2P4	Q9Y2P4	OTTHUMG00000128991	OTTHUMG00000128991	ENST00000262462.4:c.1435C>T	5.37:g.128363005C>T	ENSP00000262462:p.Arg479Cys		SLC27A6_ENST00000395266.1_Missense_Mutation_p.R479C|SLC27A6_ENST00000506176.1_Missense_Mutation_p.R479C	p.R479C			Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	7	2445	+		all_cancers(142;0.0483)|Prostate(80;0.055)	479		Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	37	c.1435C>T	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.097919	0.56075	.	.	ENSG00000113396	ENST00000262462;ENST00000395266;ENST00000506176	D;D;D	0.83075	-1.68;-1.68;-1.68	4.31	3.44	0.39384	4.31	3.44	0.39384	AMP-dependent synthetase/ligase (1);	0.101662	0.64402	D	0.000006	D	0.93314	0.7869	H	0.98466	4.24	0.58432	D	0.999996	D	0.76494	0.999	D	0.74023	0.982	D	0.92912	0.6348	9	.	.	.	1.3458	7.588	0.28004	0.3234:0.5433:0.1334:0.0	.	479	Q9Y2P4	S27A6_HUMAN	C	479	ENSP00000262462:R479C;ENSP00000378684:R479C;ENSP00000421024:R479C	.	R	+	1	0	0	SLC27A6	128390904	128390904	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.096000	0.50243	1.393000	0.46605	0.460000	0.39030	CGT		0.373	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1		5.344801	-23	-23	69	69	NM_014031		5	11.576791	11.576791	38	0.116279	0	0	0	1	0	5	38	0.116279
ABCA3	21	broad.mit.edu	37	16	2373673	2373673	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:2373673C>T	ENST00000301732.5	-	7	1164	c.464G>A	c.(463-465)cGg>cAg	p.R155Q	ABCA3_ENST00000382381.3_Missense_Mutation_p.R155Q|ABCA3_ENST00000567910.1_Missense_Mutation_p.R155Q	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	155					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.R155L(1)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	GTAACTGAACCGTAGGTGATA	0.498																																						ENST00000301732.5											1	Substitution - Missense(1)	lung(1)	breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70	GRCh37	CM074651	ABCA3	M		c.(463-465)cGg>cAg	ATP-binding cassette, sub-family A (ABC1), member 3						212.0	237.0	228.0					16																	2373673		2198	4300	6498	SO:0001583	missense	21			response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2373673C>T	U78735	U78735	CCDS10466.1	CCDS10466.1	16p13.3	2012-03-14			2012-03-14			ENSG00000167972	ENSG00000167972	ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	"""ATP binding cassette transporters / subfamily A"""	33	33	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601615	601615		ABC3		ABC3		8706931	8706931	Standard	Standard	NM_001089	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	uc002cpy.1	Q99758	Q99758	OTTHUMG00000128845	OTTHUMG00000128845	ENST00000301732.5:c.464G>A	16.37:g.2373673C>T	ENSP00000301732:p.Arg155Gln		ABCA3_ENST00000382381.3_Missense_Mutation_p.R155Q|ABCA3_ENST00000567910.1_Missense_Mutation_p.R155Q	p.R155Q	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN			7	1164	-		Ovarian(90;0.17)	155		B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	c.464G>A	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	C	36	5.693146	0.96793	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.97352	-4.35	5.43	5.43	0.79202	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.98972	0.9650	H	0.95294	3.65	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.991;1.0;1.0	D;P;D;D	0.97110	1.0;0.782;0.997;1.0	D	0.99395	1.0926	10	0.87932	D	0	.	17.9832	0.89147	0.0:1.0:0.0:0.0	.	155;217;155;155	A7MBM9;Q4LE27;Q6P5P9;Q99758	.;.;.;ABCA3_HUMAN	Q	155;217	ENSP00000301732:R155Q	ENSP00000301732:R155Q	R	-	2	0	0	ABCA3	2313674	2313674	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	6.974000	0.76122	2.824000	0.97209	0.655000	0.94253	CGG		0.498	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2		92.829140	-44	-44	284	284	NM_001089		45	117.546412	117.546412	208	0.177866	0	0	0	1	0	45	208	0.177866
KIR3DL1	3811	broad.mit.edu	37	19	55316274	55316274	+	Intron	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:55316274G>A	ENST00000538269.1	+	2	61				KIR2DL4_ENST00000359085.4_Missense_Mutation_p.A35T|KIR2DL4_ENST00000463062.1_3'UTR|KIR2DL4_ENST00000396293.1_Intron|KIR2DL4_ENST00000346587.4_Intron|KIR2DL4_ENST00000396284.2_Missense_Mutation_p.A33T|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000345540.5_Missense_Mutation_p.A35T|KIR2DL4_ENST00000357494.4_Missense_Mutation_p.A35T			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CTTCTGCTCTGCCTGGCCCAG	0.567																																						ENST00000396284.2											0			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	17						c.(97-99)Gcc>Acc	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4						34.0	33.0	33.0					19																	55316274		2121	3783	5904	SO:0001627	intron_variant	0						g.chr19:55316274G>A	L41269	X97229	CCDS42621.1	CCDS42619.1, CCDS42620.1	19q13.4	2014-05-22			2013-01-29			ENSG00000167633	ENSG00000167633		ENSG00000189013		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	6332	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604946	604945		KIR				7716543, 7749980	8946682	Standard	Standard	NM_013289	NM_001080772		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2			P43629	Q99706	OTTHUMG00000065933	OTTHUMG00000065880	ENST00000538269.1:c.35-12715G>A	19.37:g.55316274G>A			KIR2DL4_ENST00000357494.4_Missense_Mutation_p.A35T|KIR2DL4_ENST00000396293.1_Intron|KIR2DL4_ENST00000346587.4_Intron|KIR2DL4_ENST00000345540.5_Missense_Mutation_p.A35T|KIR2DL4_ENST00000359085.4_Missense_Mutation_p.A35T|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000463062.1_3'UTR|KIR3DL1_ENST00000402254.2_Intron	p.A33T						GBM - Glioblastoma multiforme(193;0.0192)	3	97	+					O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000538269.1	37	c.97G>A		.	.	.	.	.	.	.	.	.	.	G	13.45	2.239658	0.39598	.	.	ENSG00000189013	ENST00000396284;ENST00000359085;ENST00000345540;ENST00000357494;ENST00000396289	T;T;T;T;T	0.00864	5.6;5.6;5.6;5.6;5.6	1.42	0.342	0.15996	1.42	0.342	0.15996	Immunoglobulin-like fold (1);	0.551703	0.13505	U	0.382927	T	0.04048	0.0113	M	0.83603	2.65	0.09310	N	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D	0.87578	0.989;0.993;0.992;0.998;0.996;0.993	T	0.32877	-0.9890	10	0.87932	D	0	.	3.5227	0.07748	0.2683:0.0:0.7317:0.0	.	35;33;35;35;35;35	Q99706;E7EST5;Q8N741;Q99706-4;Q99706-2;Q99706-3	KI2L4_HUMAN;.;.;.;.;.	T	33;35;35;35;33	ENSP00000379580:A33T;ENSP00000351988:A35T;ENSP00000339634:A35T;ENSP00000350088:A35T;ENSP00000379584:A33T	ENSP00000339634:A35T	A	+	1	0	0	KIR2DL4	60008086	60008086	0.000000	0.05858	0.001000	0.08648	0.103000	0.19146	0.244000	0.18124	0.156000	0.19299	0.205000	0.17691	GCC		0.567	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding			12.330236	25	25	58	58	NM_013289		6	15.257325	15.257325	26	0.187500	0	0	0	1	0	6	26	0.1875
NCKAP5L	57701	broad.mit.edu	37	12	50188796	50188796	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:50188796C>T	ENST00000335999.6	-	8	3048	c.2847G>A	c.(2845-2847)ccG>ccA	p.P949P		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	945										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CCCTCCGGAGCGGGGAGCCCC	0.652																																						ENST00000335999.6											0			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						c.(2845-2847)ccG>ccA	NCK-associated protein 5-like						13.0	14.0	14.0					12																	50188796		1915	4108	6023	SO:0001819	synonymous_variant	57701						g.chr12:50188796C>T	AB046822	AB046822	CCDS41781.2	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566	ENSG00000167566	ENSG00000167566				29321	29321	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615104	615104	"""KIAA1602"""	KIAA1602	"""KIAA1602"""	KIAA1602				Standard	Standard	NM_001037806	NM_001037806		Approved		uc009zlk.2	uc009zlk.2	Q9HCH0	Q9HCH0	OTTHUMG00000156969	OTTHUMG00000156969	ENST00000335999.6:c.2847G>A	12.37:g.50188796C>T				p.P949P	NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN			8	3048	-			945		Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Silent	SNP	ENST00000335999.6	37	c.2847G>A	CCDS41781.2	.	.	.	.	.	.	.	.	.	.	C	2.115	-0.402750	0.04865	.	.	ENSG00000167566	ENST00000433948	.	.	.	5.23	-6.45	0.01914	5.23	-6.45	0.01914	.	.	.	.	.	T	0.38719	0.1051	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41875	-0.9484	4	.	.	.	-18.0814	3.866	0.09016	0.0958:0.4002:0.0947:0.4093	.	.	.	.	T	664	.	.	A	-	1	0	0	NCKAP5L	48475063	48475063	0.000000	0.05858	0.810000	0.32431	0.478000	0.33099	-2.900000	0.00704	-1.077000	0.03121	-0.448000	0.05591	GCT		0.652	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2		4.310418	-11	-11	14	14	XM_035497		3	6.89239	6.892390	18	0.142857	0	0	0	1	0	3	18	0.142857
GIT1	28964	broad.mit.edu	37	17	27903361	27903361	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:27903361G>A	ENST00000225394.3	-	14	1736	c.1488C>T	c.(1486-1488)ggC>ggT	p.G496G	GIT1_ENST00000394869.3_Silent_p.G505G|GIT1_ENST00000581348.1_Silent_p.G505G|GIT1_ENST00000579937.1_Silent_p.G496G|RP11-68I3.2_ENST00000581474.1_RNA	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	496					regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		GTGTGCTCCCGCCTGGCGCCA	0.677																																					Colon(81;41 1719 20078 35068)	ENST00000225394.3											0			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(1486-1488)ggC>ggT	G protein-coupled receptor kinase interacting ArfGAP 1						61.0	71.0	68.0					17																	27903361		2203	4300	6503	SO:0001819	synonymous_variant	28964			regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr17:27903361G>A	AF124490	AF124490	CCDS11250.1, CCDS42290.1	CCDS11250.1, CCDS42290.1	17p11.2	2013-01-10	2008-09-05		2013-01-10	2008-09-05		ENSG00000108262	ENSG00000108262	ENSG00000108262	ENSG00000108262		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4272	4272	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608434	608434	"""G protein-coupled receptor kinase interactor 1"""		"""G protein-coupled receptor kinase interactor 1"""			9826657, 10896954	9826657, 10896954	Standard	Standard	NM_014030	NM_014030		Approved		uc002heg.2	uc002heg.2	Q9Y2X7	Q9Y2X7	OTTHUMG00000132730	OTTHUMG00000132730	ENST00000225394.3:c.1488C>T	17.37:g.27903361G>A			GIT1_ENST00000579937.1_Silent_p.G496G|GIT1_ENST00000394869.3_Silent_p.G505G|GIT1_ENST00000581348.1_Silent_p.G505G|RP11-68I3.2_ENST00000581474.1_RNA	p.G496G	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN		READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)	14	1736	-			496		B4DGU9|B4DSV3|Q86SS0|Q9BRJ4	Silent	SNP	ENST00000225394.3	37	c.1488C>T	CCDS11250.1																																																																																									0.677	GIT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256073.1		7.319179	-10	-10	100	100	NM_014030		6	14.398425	14.398425	44	0.120000	0	0	0	1	0	6	44	0.12
ZSCAN10	84891	broad.mit.edu	37	16	3139813	3139813	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:3139813C>T	ENST00000252463.2	-	5	1544	c.1457G>A	c.(1456-1458)cGg>cAg	p.R486Q	ZSCAN10_ENST00000575108.1_Missense_Mutation_p.R147Q|RP11-473M20.9_ENST00000571404.1_lincRNA|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.R404Q	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	486					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						GTGCACCCTCCGGTGGGCCAC	0.731																																						ENST00000252463.2											0			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						c.(1456-1458)cGg>cAg	zinc finger and SCAN domain containing 10						6.0	7.0	7.0					16																	3139813		2101	4166	6267	SO:0001583	missense	84891			negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3139813C>T	AA206569	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		ENSG00000130182		"""-"", ""Zinc fingers, C2H2-type"""	"""-"", ""Zinc fingers, C2H2-type"""	12997	12997	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""zinc finger protein 206"""	ZNF206	"""zinc finger protein 206"""	ZNF206		9653642	9653642	Standard	Standard	NM_032805	NM_032805		Approved		uc002ctv.1	uc002ctv.1	Q96SZ4	Q96SZ4			ENST00000252463.2:c.1457G>A	16.37:g.3139813C>T	ENSP00000252463:p.Arg486Gln		ZSCAN10_ENST00000538082.2_Missense_Mutation_p.R404Q|ZSCAN10_ENST00000575108.1_Missense_Mutation_p.R147Q	p.R486Q	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN			5	1544	-			486		B3KQD3|H0YFS6|Q1WWM2	Missense_Mutation	SNP	ENST00000252463.2	37	c.1457G>A	CCDS10493.1	.	.	.	.	.	.	.	.	.	.	C	1.414	-0.574578	0.03882	.	.	ENSG00000130182	ENST00000538082;ENST00000252463	T	0.07444	3.19	5.34	-0.863	0.10669	5.34	-0.863	0.10669	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.824186	0.10424	N	0.676268	T	0.02380	0.0073	N	0.04148	-0.265	0.58432	D	0.999999	B;B;B	0.26120	0.014;0.142;0.03	B;B;B	0.14578	0.009;0.011;0.004	T	0.48043	-0.9069	10	0.02654	T	1	-11.4591	3.7963	0.08740	0.1993:0.2839:0.0:0.5169	.	147;419;486	Q96SZ4-2;Q1WWM2;Q96SZ4	.;.;ZSC10_HUMAN	Q	419;486	ENSP00000252463:R486Q	ENSP00000252463:R486Q	R	-	2	0	0	ZSCAN10	3079814	3079814	0.000000	0.05858	0.914000	0.36105	0.946000	0.59487	-2.348000	0.01094	-0.024000	0.13941	-0.253000	0.11424	CGG		0.731	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2		9.325414	-8	-8	9	9	NM_032805		3	9.369058	9.369058	2	0.600000	0	0	0	1	0	3	2	0.6
DSCAML1	57453	broad.mit.edu	37	11	117651409	117651409	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:117651409C>T	ENST00000321322.6	-	2	344	c.343G>A	c.(343-345)Gcg>Acg	p.A115T	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	55	Ig-like C2-type 1.|Ig-like C2-type 2.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CGAAGGGCCGCGCTGGGGGAG	0.657																																						ENST00000321322.6											0			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(343-345)Gcg>Acg	Down syndrome cell adhesion molecule like 1						43.0	49.0	47.0					11																	117651409		2201	4295	6496	SO:0001583	missense	57453			axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117651409C>T			CCDS8384.1	CCDS8384.1	11q22.2-q22.3	2013-02-11			2013-02-11			ENSG00000177103	ENSG00000177103	ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	14656	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611782	611782						11453658	11453658	Standard	Standard	NM_020693	NM_020693		Approved	KIAA1132	uc001prh.1	uc001prh.1	Q8TD84	Q8TD84	OTTHUMG00000167071	OTTHUMG00000167071	ENST00000321322.6:c.343G>A	11.37:g.117651409C>T	ENSP00000315465:p.Ala115Thr		DSCAML1_ENST00000527706.1_Intron	p.A115T	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	2	344	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	55	Ig-like C2-type 1.|Ig-like C2-type 2.	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.343G>A	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	36	5.604637	0.96626	.	.	ENSG00000177103	ENST00000321322	T	0.39787	1.06	5.1	5.1	0.69264	5.1	5.1	0.69264	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.46483	0.1395	L	0.27053	0.805	0.80722	D	1	D	0.64830	0.994	P	0.53954	0.738	T	0.48375	-0.9041	9	0.59425	D	0.04	.	18.9124	0.92491	0.0:1.0:0.0:0.0	.	55	Q8TD84	DSCL1_HUMAN	T	115	ENSP00000315465:A115T	ENSP00000315465:A115T	A	-	1	0	0	DSCAML1	117156619	117156619	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.536000	0.85505	0.563000	0.77884	GCG		0.657	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2		81.453087	7	7	66	66	NM_020693		26	81.470653	81.470653	24	0.520000	0	0	0	1	0	26	24	0.52
ZHX3	23051	broad.mit.edu	37	20	39831218	39831218	+	Missense_Mutation	SNP	C	C	T	rs371613858		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr20:39831218C>T	ENST00000309060.3	-	4	2754	c.2339G>A	c.(2338-2340)cGg>cAg	p.R780Q	ZHX3_ENST00000432768.2_Missense_Mutation_p.R780Q|ZHX3_ENST00000559234.1_Missense_Mutation_p.R780Q|ZHX3_ENST00000540170.1_Missense_Mutation_p.R780Q|ZHX3_ENST00000544979.2_Missense_Mutation_p.R780Q|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000560361.1_Missense_Mutation_p.R780Q|ZHX3_ENST00000557816.1_Intron			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	780					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				AAAGAGCTGCCGCAGCAAGTG	0.587																																						ENST00000309060.3											0			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(2338-2340)cGg>cAg	zinc fingers and homeoboxes 3	C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	77.0	82.0	80.0		2339	6.1	1.0	20		80	0,8600		0,0,4300	no	missense	ZHX3	NM_015035.3	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	780/957	39831218	1,13005	2203	4300	6503	SO:0001583	missense	23051			negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:39831218C>T	AB007855	AB007855	CCDS13315.1	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306	ENSG00000174306	ENSG00000174306		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	15935	15935	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609598	609598	"""triple homeobox 1"""	TIX1	"""triple homeobox 1"""	TIX1		9455477	9455477	Standard	Standard	XM_005260343	XM_005260343		Approved	KIAA0395	uc002xjs.1	uc002xjs.1	Q9H4I2	Q9H4I2	OTTHUMG00000032481	OTTHUMG00000032481	ENST00000309060.3:c.2339G>A	20.37:g.39831218C>T	ENSP00000312222:p.Arg780Gln		ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000540170.1_Missense_Mutation_p.R780Q|ZHX3_ENST00000544979.2_Missense_Mutation_p.R780Q|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000432768.2_Missense_Mutation_p.R780Q|ZHX3_ENST00000559234.1_Missense_Mutation_p.R780Q|ZHX3_ENST00000560361.1_Missense_Mutation_p.R780Q	p.R780Q			Q9H4I2	ZHX3_HUMAN			4	2754	-		Myeloproliferative disorder(115;0.00425)	780		E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	ENST00000309060.3	37	c.2339G>A	CCDS13315.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.788874	0.70337	2.27E-4	0.0	ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000373262	D;D;D	0.91686	-2.89;-2.89;-2.89	6.07	6.07	0.98685	6.07	6.07	0.98685	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.051068	0.64402	D	0.000001	D	0.92479	0.7612	M	0.70275	2.135	0.47153	D	0.999331	P;D;D	0.60575	0.919;0.963;0.988	B;P;P	0.51999	0.407;0.489;0.687	D	0.91027	0.4861	10	0.42905	T	0.14	-26.6728	7.9852	0.30207	0.0:0.8162:0.0:0.1838	.	780;780;780	A8K8Q0;Q9H4I2;F5H820	.;ZHX3_HUMAN;.	Q	780;780;780;780;558	ENSP00000362360:R780Q;ENSP00000442290:R780Q;ENSP00000443783:R780Q	ENSP00000312222:R780Q	R	-	2	0	0	ZHX3	39264632	39264632	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.085000	0.57657	2.884000	0.98904	0.655000	0.94253	CGG		0.587	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3		2.862408	-3	-3	123	123	NM_015035		7	17.155861	17.155861	75	0.085366	0	0	0	1	0	7	75	0.085366
DCDC1	341019	hgsc.bcm.edu	37	11	30938461	30938461	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:30938461C>T	ENST00000597505.1	-	24	3407	c.3408G>A	c.(3406-3408)acG>acA	p.T1136T	DCDC1_ENST00000339794.5_Silent_p.T215T|DCDC1_ENST00000406071.2_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GCCCTTTTTCCGTTTTCTTTG	0.413																																																	0																	143.0	142.0	142.0					11																	30938461		2202	4299	6501	SO:0001819	synonymous_variant	100506627							AY247970	AY247970	CCDS7872.1	CCDS7872.1	11p14.1	2013-05-22			2013-05-22			ENSG00000170959	ENSG00000170959	ENSG00000170959	ENSG00000170959				20625	20625	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608062	608062						12820024	12820024	Standard	Standard	NM_181807	NM_181807		Approved		uc001msv.3	uc001msv.3	P59894	P59894	OTTHUMG00000150144	OTTHUMG00000150144	ENST00000597505.1:c.3408G>A	11.37:g.30938461C>T																		A6PVL6|B7WNX6|Q6ZU04	Silent	SNP	ENST00000597505.1	37																																																																																											0.413	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1			9	9	51	51	NM_181807		8			24							8	24	
SYTL3	94120	broad.mit.edu	37	6	159181683	159181683	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:159181683C>T	ENST00000297239.9	+	14	1514	c.1320C>T	c.(1318-1320)taC>taT	p.Y440Y	SYTL3_ENST00000367081.3_Silent_p.Y166Y|SYTL3_ENST00000360448.3_Silent_p.Y372Y			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	440					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		CGGAGAAATACGAAGACAGCG	0.547																																						ENST00000297239.9											0			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20						c.(1318-1320)taC>taT	synaptotagmin-like 3						114.0	106.0	109.0					6																	159181683		2203	4300	6503	SO:0001819	synonymous_variant	94120			intracellular protein transport	endomembrane system|membrane	Rab GTPase binding	g.chr6:159181683C>T	AK055750	AK055750	CCDS34563.1, CCDS56458.1	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			2008-07-04			ENSG00000164674	ENSG00000164674	ENSG00000164674	ENSG00000164674				15587	15587	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										11773082	11773082	Standard	Standard	NM_001242384	NM_001242384		Approved	SLP3, exophilin-6	uc003qrp.3	uc003qrp.3	Q4VX76	Q4VX76	OTTHUMG00000015916	OTTHUMG00000015916	ENST00000297239.9:c.1320C>T	6.37:g.159181683C>T			SYTL3_ENST00000360448.3_Silent_p.Y372Y|SYTL3_ENST00000367081.3_Silent_p.Y166Y	p.Y440Y			Q4VX76	SYTL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)	14	1514	+		Breast(66;0.000776)|Ovarian(120;0.0303)	440		Q496J4|Q496J6|Q5U3B9	Silent	SNP	ENST00000297239.9	37	c.1320C>T	CCDS56458.1																																																																																									0.547	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042876.1		50.690701	-17	-17	100	100			19	54.8322	54.832200	56	0.253333	0	0	0	1	0	19	56	0.253333
STON1	11037	broad.mit.edu	37	2	48809431	48809431	+	Silent	SNP	G	G	A	rs370458736		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:48809431G>A	ENST00000406226.1	+	3	1854	c.1659G>A	c.(1657-1659)gcG>gcA	p.A553A	STON1-GTF2A1L_ENST00000309827.2_Silent_p.A553A|STON1-GTF2A1L_ENST00000394754.1_Silent_p.A553A|STON1_ENST00000309835.3_Silent_p.A553A|STON1-GTF2A1L_ENST00000402114.2_Silent_p.A553A|STON1-GTF2A1L_ENST00000394751.3_Silent_p.A553A|STON1-GTF2A1L_ENST00000405008.1_Silent_p.A553A|STON1_ENST00000404752.1_Silent_p.A553A	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	553	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)		p.A553A(2)		NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCTCATTGGCGCAGAGGTCAT	0.478																																						ENST00000309835.3											2	Substitution - coding silent(2)	large_intestine(2)	NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37						c.(1657-1659)gcG>gcA	stonin 1	G	,,,,	0,4406		0,0,2203	148.0	146.0	146.0		1659,1659,1659,1659,1659	-4.0	0.0	2		146	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	STON1,STON1-GTF2A1L	NM_001198593.1,NM_001198594.1,NM_001198595.1,NM_006873.3,NM_172311.2	,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,	553/1159,553/1136,553/736,553/736,553/1183	48809431	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	11037						g.chr2:48809431G>A	AF026169	AF026169	CCDS1841.1	CCDS1841.1	2p16.3	2008-02-05			2008-02-05			ENSG00000243244	ENSG00000243244	ENSG00000243244	ENSG00000243244				17003	17003	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""stoned B homolog 1 (Drosophila)"""	"""stoned B homolog 1 (Drosophila)"""	605357	605357						14504226, 10364255	14504226, 10364255	Standard	Standard	NM_001198595	NM_001198595		Approved	SBLF, stoned-b1			Q9Y6Q2	Q9Y6Q2	OTTHUMG00000129169	OTTHUMG00000129169	ENST00000406226.1:c.1659G>A	2.37:g.48809431G>A			STON1-GTF2A1L_ENST00000309827.2_Silent_p.A553A|STON1-GTF2A1L_ENST00000402114.2_Silent_p.A553A|STON1_ENST00000404752.1_Silent_p.A553A|STON1-GTF2A1L_ENST00000394751.3_Silent_p.A553A|STON1-GTF2A1L_ENST00000405008.1_Silent_p.A553A|STON1-GTF2A1L_ENST00000394754.1_Silent_p.A553A|STON1_ENST00000406226.1_Silent_p.A553A	p.A553A					Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		1	1669	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Silent	SNP	ENST00000406226.1	37	c.1659G>A	CCDS1841.1																																																																																									0.478	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2		91.037351	-23	-23	90	90	NM_006873		30	91.12156	91.121560	35	0.461538	0	0	0	1	0	30	35	0.461538
FXR2	9513	broad.mit.edu	37	17	7499190	7499190	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:7499190G>A	ENST00000250113.7	-	8	1117	c.783C>T	c.(781-783)acC>acT	p.T261T		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	261	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.					cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		ACTCAATGGCGGTCACCCCAG	0.547																																						ENST00000250113.7											0			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26						c.(781-783)acC>acT	fragile X mental retardation, autosomal homolog 2						87.0	87.0	87.0					17																	7499190		1980	4161	6141	SO:0001819	synonymous_variant	9513				cytosolic large ribosomal subunit	protein binding|RNA binding	g.chr17:7499190G>A	U31501	U31501	CCDS45604.1	CCDS45604.1	17p13.3	2014-09-17			2014-09-17				ENSG00000129245		ENSG00000129245				4024	4024	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605339	605339		FMR1L2		FMR1L2		7489725, 9259278	7489725, 9259278	Standard	Standard	NM_004860	NM_004860		Approved		uc002gia.2	uc002gia.2	P51116	P51116			ENST00000250113.7:c.783C>T	17.37:g.7499190G>A				p.T261T	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN		READ - Rectum adenocarcinoma(115;0.17)	8	1117	-			261	KH 1.	B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Silent	SNP	ENST00000250113.7	37	c.783C>T	CCDS45604.1																																																																																									0.547	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1		19.145113	-30	-30	57	57			9	24.174684	24.174684	42	0.176471	0	0	0	1	0	9	42	0.176471
KIR3DL1	3811	broad.mit.edu	37	19	55284980	55284980	+	Intron	SNP	G	G	A	rs543746914		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:55284980G>A	ENST00000538269.1	+	2	61				KIR2DL3_ENST00000434419.2_Intron|KIR2DL1_ENST00000336077.6_Missense_Mutation_p.R89H|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.R89H|CTB-61M7.1_ENST00000400864.3_RNA			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)	p.R89H(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		TCCATCAGTCGCATGACGCAA	0.537													.|||	1	0.000199681	0.0	0.0	5008	,	,		18723	0.001		0.0	False		,,,				2504	0.0					ENST00000336077.6											1	Substitution - Missense(1)	prostate(1)	breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						c.(265-267)cGc>cAc	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1						254.0	223.0	233.0					19																	55284980		2178	4210	6388	SO:0001627	intron_variant	3802			immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr19:55284980G>A	L41269	L41267	CCDS42621.1	CCDS12904.1	19q13.4	2014-05-22			2013-01-29			ENSG00000167633	ENSG00000167633	ENSG00000125498	ENSG00000125498		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	6329	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604946	604936		KIR				7716543, 7749980	7749980, 7716543	Standard	Standard	NM_013289	NM_014218		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		uc002qhb.1	P43629	P43626	OTTHUMG00000065933	OTTHUMG00000065885	ENST00000538269.1:c.35-44009G>A	19.37:g.55284980G>A			KIR2DL3_ENST00000434419.2_Intron|KIR2DL4_ENST00000396284.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.R89H|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron	p.R89H	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	3	306	+			89	Ig-like C2-type 1.	O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000538269.1	37	c.266G>A		.	.	.	.	.	.	.	.	.	.	a	7.047	0.563636	0.13498	.	.	ENSG00000125498	ENST00000336077;ENST00000291633	T;T	0.23147	1.92;1.92	1.24	0.114	0.14639	1.24	0.114	0.14639	.	.	.	.	.	T	0.12263	0.0298	N	0.11756	0.17	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.0;0.002	T	0.25187	-1.0139	9	0.66056	D	0.02	.	3.5284	0.07768	0.2873:0.4304:0.2823:0.0	.	89;89	Q6IST4;Q6H2H3	.;.	H	89	ENSP00000336769:R89H;ENSP00000291633:R89H	ENSP00000291633:R89H	R	+	2	0	0	KIR2DL1	59976792	59976792	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.081000	0.14823	-0.274000	0.09232	-2.943000	0.00086	CGC		0.537	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding			72.348324	83	83	239	239	NM_013289		31	85.111598	85.111598	123	0.201299	0	0	0	1	0	31	123	0.201299
KIF4B	285643	broad.mit.edu	37	5	154395374	154395374	+	Missense_Mutation	SNP	G	G	A	rs199820075		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:154395374G>A	ENST00000435029.4	+	1	2115	c.1955G>A	c.(1954-1956)cGt>cAt	p.R652H		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	652					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)	p.R652H(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGTTAATGCGTCAAATGAAA	0.408													G|||	1	0.000199681	0.0	0.0	5008	,	,		22303	0.001		0.0	False		,,,				2504	0.0					ENST00000435029.4											2	Substitution - Missense(2)	lung(2)	breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(1954-1956)cGt>cAt	kinesin family member 4B						157.0	156.0	156.0					5																	154395374		2203	4300	6503	SO:0001583	missense	285643			axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154395374G>A	AF241316	AF241316	CCDS47324.1	CCDS47324.1	5q33.2	2010-06-22			2010-06-22			ENSG00000226650	ENSG00000226650	ENSG00000226650	ENSG00000226650		"""Kinesins"""	"""Kinesins"""	6322	6322	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609184	609184								Standard	Standard	NM_001099293	NM_001099293		Approved		uc010jih.1	uc010jih.1	Q2VIQ3	Q2VIQ3	OTTHUMG00000164143	OTTHUMG00000164143	ENST00000435029.4:c.1955G>A	5.37:g.154395374G>A	ENSP00000387875:p.Arg652His			p.R652H	NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	2115	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	652			Missense_Mutation	SNP	ENST00000435029.4	37	c.1955G>A	CCDS47324.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	12.12	1.842099	0.32513	.	.	ENSG00000226650	ENST00000435029	T	0.18174	2.23	2.54	0.587	0.17439	2.54	0.587	0.17439	.	.	.	.	.	T	0.12178	0.0296	L	0.47716	1.5	0.48236	D	0.999614	B	0.31256	0.316	B	0.24269	0.052	T	0.09164	-1.0687	9	0.59425	D	0.04	.	5.0708	0.14606	0.3293:0.0:0.6707:0.0	.	652	Q2VIQ3	KIF4B_HUMAN	H	652	ENSP00000387875:R652H	ENSP00000387875:R652H	R	+	2	0	0	KIF4B	154375567	154375567	1.000000	0.71417	0.985000	0.45067	0.996000	0.88848	4.427000	0.59888	-0.177000	0.10690	0.563000	0.77884	CGT		0.408	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1		-2.954351	-25	-25	117	117			7	15.595008	15.595008	91	0.071429	0	0	0	1	0	7	91	0.071429
LRRC8A	56262	broad.mit.edu	37	9	131670589	131670589	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:131670589C>T	ENST00000259324.5	+	3	1669	c.1146C>T	c.(1144-1146)taC>taT	p.Y382Y	LRRC8A_ENST00000372599.3_Silent_p.Y382Y|LRRC8A_ENST00000372600.4_Silent_p.Y382Y	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	382					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						TTGACCAATACGACCCGCTCT	0.562																																						ENST00000259324.5											0			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						c.(1144-1146)taC>taT	leucine rich repeat containing 8 family, member A						132.0	112.0	119.0					9																	131670589		2203	4300	6503	SO:0001819	synonymous_variant	56262			pre-B cell differentiation	integral to membrane		g.chr9:131670589C>T	AB037858	AB037858	CCDS35155.1	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802	ENSG00000136802	ENSG00000136802				19027	19027	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608360	608360	"""leucine rich repeat containing 8"""	LRRC8	"""leucine rich repeat containing 8"""	LRRC8				Standard	Standard	NM_001127244	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	uc010myp.3	Q8IWT6	Q8IWT6	OTTHUMG00000020766	OTTHUMG00000020766	ENST00000259324.5:c.1146C>T	9.37:g.131670589C>T			LRRC8A_ENST00000372599.3_Silent_p.Y382Y|LRRC8A_ENST00000372600.4_Silent_p.Y382Y	p.Y382Y	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN			3	1669	+			382		Q6UXM2|Q8NCI0|Q9P2B1	Silent	SNP	ENST00000259324.5	37	c.1146C>T	CCDS35155.1																																																																																									0.562	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2		56.982212	-21	-21	72	72	NM_019594		20	58.457144	58.457144	40	0.333333	0	0	0	1	0	20	40	0.333333
MLST8	64223	broad.mit.edu	37	16	2258519	2258519	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:2258519C>T	ENST00000569417.1	+	8	1121	c.767C>T	c.(766-768)aCg>aTg	p.T256M	MLST8_ENST00000565250.1_Missense_Mutation_p.T256M|MLST8_ENST00000382450.4_Missense_Mutation_p.T255M|MLST8_ENST00000397124.1_Missense_Mutation_p.T256M|MLST8_ENST00000301725.7_3'UTR|MLST8_ENST00000301724.10_Missense_Mutation_p.T256M|MLST8_ENST00000564088.1_Missense_Mutation_p.T256M	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	256					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of TOR signaling (GO:0032008)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Rac GTPase activity (GO:0032314)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				large_intestine(3)|lung(2)|skin(1)	6						TCCCTGATGACGGAGCTGAGC	0.647																																						ENST00000569417.1											0			large_intestine(3)|lung(2)|skin(1)	6						c.(766-768)aCg>aTg	MTOR associated protein, LST8 homolog (S. cerevisiae)						70.0	85.0	80.0					16																	2258519		2129	4239	6368	SO:0001583	missense	64223			insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding	g.chr16:2258519C>T			CCDS10462.2, CCDS58409.1	CCDS10462.2, CCDS58409.1	16p13.3	2013-01-09			2013-01-09			ENSG00000167965	ENSG00000167965	ENSG00000167965	ENSG00000167965		"""WD repeat domain containing"""	"""WD repeat domain containing"""	24825	24825	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""G protein beta subunit like"""	"""G protein beta subunit like"""	612190	612190						12477932	12477932	Standard	Standard	NM_022372	NM_022372		Approved	Lst8, Pop3, GBL, GbetaL	uc002cpc.3	uc002cpc.3	Q9BVC4	Q9BVC4	OTTHUMG00000128827	OTTHUMG00000128827	ENST00000569417.1:c.767C>T	16.37:g.2258519C>T	ENSP00000456405:p.Thr256Met		MLST8_ENST00000565250.1_Missense_Mutation_p.T256M|MLST8_ENST00000382450.4_Missense_Mutation_p.T255M|MLST8_ENST00000301725.7_3'UTR|MLST8_ENST00000564088.1_Missense_Mutation_p.T256M|MLST8_ENST00000397124.1_Missense_Mutation_p.T256M|MLST8_ENST00000301724.10_Missense_Mutation_p.T256M	p.T256M	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN			8	1121	+			256		B3KMM4|B4DY00|D3DU88|Q5M800|Q86Y18|Q8WUI5|Q9HA66|Q9UJV6	Missense_Mutation	SNP	ENST00000569417.1	37	c.767C>T	CCDS10462.2	.	.	.	.	.	.	.	.	.	.	C	18.22	3.576300	0.65878	.	.	ENSG00000167965	ENST00000382450;ENST00000301724;ENST00000397124	T;T	0.40225	1.57;1.04	4.83	4.83	0.62350	4.83	4.83	0.62350	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.30448	0.0765	L	0.31120	0.905	0.80722	D	1	P;P	0.43094	0.799;0.783	B;B	0.33890	0.172;0.115	T	0.20840	-1.0263	10	0.51188	T	0.08	-16.3781	16.4983	0.84251	0.0:1.0:0.0:0.0	.	190;256	Q9BVC4-3;Q9BVC4	.;LST8_HUMAN	M	256	ENSP00000301724:T256M;ENSP00000380313:T256M	ENSP00000301724:T256M	T	+	2	0	0	MLST8	2198520	2198520	1.000000	0.71417	0.967000	0.41034	0.899000	0.52679	7.766000	0.85320	2.235000	0.73313	0.313000	0.20887	ACG		0.647	MLST8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250763.2		-5.292687	-13	-13	151	151	NM_022372		5	11.211553	11.211553	77	0.060976	0	0	0	1	0	5	77	0.060976
MATK	4145	broad.mit.edu	37	19	3778526	3778526	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:3778526C>T	ENST00000310132.6	-	13	1663	c.1265G>A	c.(1264-1266)cGg>cAg	p.R422Q	MATK_ENST00000395045.2_Missense_Mutation_p.R423Q|MATK_ENST00000585778.1_Missense_Mutation_p.R421Q|MATK_ENST00000395040.2_Missense_Mutation_p.R381Q	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	422	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GTACGGAGCCCGTCCATATGA	0.647																																						ENST00000310132.6											0			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26						c.(1264-1266)cGg>cAg	megakaryocyte-associated tyrosine kinase						55.0	59.0	58.0					19																	3778526		2203	4299	6502	SO:0001583	missense	4145			cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:3778526C>T	L18974	L18974	CCDS12113.1, CCDS12114.1, CCDS42468.1	CCDS12113.1, CCDS12114.1, CCDS42468.1	19p13.3	2013-02-14			2013-02-14								"""SH2 domain containing"""	"""SH2 domain containing"""	6906	6906	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""Csk-homologous kinase"", ""tyrosine-protein kinase CTK"", ""protein kinase HYL"", ""hematopoietic consensus tyrosine-lacking kinase"", ""tyrosylprotein kinase"", ""hydroxyaryl-protein kinase"", ""Csk-type protein tyrosine kinase"", ""HYL tyrosine kinase"", ""tyrosine kinase MATK"", ""leukocyte carboxyl-terminal src kinase related"""	"""Csk-homologous kinase"", ""tyrosine-protein kinase CTK"", ""protein kinase HYL"", ""hematopoietic consensus tyrosine-lacking kinase"", ""tyrosylprotein kinase"", ""hydroxyaryl-protein kinase"", ""Csk-type protein tyrosine kinase"", ""HYL tyrosine kinase"", ""tyrosine kinase MATK"", ""leukocyte carboxyl-terminal src kinase related"""	600038	600038						8288563, 7530249	8288563, 7530249	Standard	Standard	NM_139355	NM_139355		Approved	HYLTK, CTK, HYL, Lsk, CHK, HHYLTK, DKFZp434N1212, MGC1708, MGC2101	uc002lyt.3	uc002lyt.3	P42679	P42679			ENST00000310132.6:c.1265G>A	19.37:g.3778526C>T	ENSP00000308734:p.Arg422Gln		MATK_ENST00000395045.2_Missense_Mutation_p.R423Q|MATK_ENST00000585778.1_Missense_Mutation_p.R421Q|MATK_ENST00000395040.2_Missense_Mutation_p.R381Q	p.R422Q	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	13	1663	-		Hepatocellular(1079;0.137)	422	Protein kinase.	B3KNZ9|Q9NST8	Missense_Mutation	SNP	ENST00000310132.6	37	c.1265G>A	CCDS12114.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.221554	0.79464	.	.	ENSG00000007264	ENST00000395045;ENST00000310132;ENST00000395040	D;D;D	0.82255	-1.59;-1.59;-1.59	3.74	3.74	0.42951	3.74	3.74	0.42951	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.079304	0.51477	D	0.000084	T	0.81669	0.4871	N	0.05510	-0.035	0.48830	D	0.999713	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.992;0.992	D	0.86103	0.1557	10	0.87932	D	0	-28.0087	14.7571	0.69572	0.0:1.0:0.0:0.0	.	422;423;422	F1T0G6;B3KNZ9;P42679	.;.;MATK_HUMAN	Q	423;422;381	ENSP00000378485:R423Q;ENSP00000308734:R422Q;ENSP00000378481:R381Q	ENSP00000308734:R422Q	R	-	2	0	0	MATK	3729526	3729526	1.000000	0.71417	0.906000	0.35671	0.542000	0.35054	4.592000	0.61027	1.944000	0.56390	0.543000	0.68304	CGG		0.647	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453639.1		17.145791	1	1	24	24	NM_139355		6	17.365341	17.365341	10	0.375000	0	0	0	1	0	6	10	0.375
ELOVL2	54898	broad.mit.edu	37	6	10990061	10990061	+	Missense_Mutation	SNP	C	C	T	rs202019761		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:10990061C>T	ENST00000354666.3	-	7	723	c.640G>A	c.(640-642)Gtg>Atg	p.V214M		NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	ELOVL fatty acid elongase 2	214					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	fatty acid elongase activity (GO:0009922)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			ATGGTGAGCACGAACTGCACC	0.542																																						ENST00000354666.3											0			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14						c.(640-642)Gtg>Atg	ELOVL fatty acid elongase 2						90.0	77.0	82.0					6																	10990061		2203	4300	6503	SO:0001583	missense	54898			fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr6:10990061C>T	AK000341	AK000341	CCDS4518.1	CCDS4518.1	6p24.1	2011-05-25	2011-05-25		2011-05-25	2011-05-25		ENSG00000197977	ENSG00000197977	ENSG00000197977	ENSG00000197977				14416	14416	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611814	611814	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 2"""		"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 2"""			12371743, 16564093	12371743, 16564093	Standard	Standard	NM_017770	NM_017770		Approved	Ssc2	uc003mzp.4	uc003mzp.4	Q9NXB9	Q9NXB9	OTTHUMG00000014252	OTTHUMG00000014252	ENST00000354666.3:c.640G>A	6.37:g.10990061C>T	ENSP00000346693:p.Val214Met			p.V214M	NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	Epithelial(50;0.176)		7	723	-	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	214		Q6P9E1|Q86W94	Missense_Mutation	SNP	ENST00000354666.3	37	c.640G>A	CCDS4518.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	16.46	3.130076	0.56721	.	.	ENSG00000197977	ENST00000354666	T	0.26660	1.72	5.81	-0.939	0.10408	5.81	-0.939	0.10408	.	0.741921	0.12335	N	0.478022	T	0.32224	0.0822	M	0.76727	2.345	0.22719	N	0.998812	P	0.46706	0.883	P	0.51016	0.656	T	0.57106	-0.7868	10	0.66056	D	0.02	-0.011	24.2674	0.99989	0.0:0.261:0.739:0.0	.	214	Q9NXB9	ELOV2_HUMAN	M	214	ENSP00000346693:V214M	ENSP00000346693:V214M	V	-	1	0	0	ELOVL2	11098047	11098047	0.000000	0.05858	0.418000	0.26571	0.910000	0.53928	-0.857000	0.04286	-0.168000	0.10853	0.655000	0.94253	GTG		0.542	ELOVL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039849.1		12.732002	2	2	53	53			6	15.449361	15.449361	25	0.193548	0	0	0	1	0	6	25	0.193548
ASMTL	8623	broad.mit.edu	37	X	1546804	1546804	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:1546804G>A	ENST00000381317.3	-	7	752	c.720C>T	c.(718-720)gaC>gaT	p.D240D	ASMTL_ENST00000463763.1_5'UTR|ASMTL_ENST00000534940.1_Silent_p.D182D|ASMTL_ENST00000381333.4_Silent_p.D224D|ASMTL_ENST00000416733.2_Silent_p.D164D	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	240						cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCCCCTCCACGTCACTGAGGT	0.697													g|||	1	0.000199681	0.0008	0.0	5008	,	,		14700	0.0		0.0	False		,,,				2504	0.0					ENST00000534940.1											0			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23						c.(544-546)gaC>gaT	acetylserotonin O-methyltransferase-like	G	,,	1,4031		0,1,2015	47.0	60.0	56.0		546,672,720	-0.2	0.0	X		56	0,8262		0,0,4131	no	coding-synonymous,coding-synonymous,coding-synonymous	ASMTL	NM_001173473.1,NM_001173474.1,NM_004192.3	,,	0,1,6146	AA,AG,GG		0.0,0.0248,0.0081	,,	182/564,224/606,240/622	1546804	1,12293	2016	4131	6147	SO:0001819	synonymous_variant	8623			melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity	g.chrX:1546804G>A	Y15521	Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			2008-02-05			ENSG00000169093	ENSG00000169093	ENSG00000169093	ENSG00000169093		"""Pseudoautosomal regions / PAR1"""	"""Pseudoautosomal regions / PAR1"""	751	751	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300162, 400011	300162, 400011						9736779	9736779	Standard	Standard	NM_004192	NM_004192		Approved		uc004cpx.2	uc004cpx.2	O95671	O95671	OTTHUMG00000021057	OTTHUMG00000021057	ENST00000381317.3:c.720C>T	X.37:g.1546804G>A			ASMTL_ENST00000381333.4_Silent_p.D224D|ASMTL_ENST00000381317.3_Silent_p.D240D|ASMTL_ENST00000416733.2_Silent_p.D164D|ASMTL_ENST00000463763.1_5'UTR	p.D182D	NM_001173473.1	NP_001166944.1	O95671	ASML_HUMAN			7	771	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	240	MAF-like.	B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Silent	SNP	ENST00000381317.3	37	c.546C>T	CCDS43917.1																																																																																									0.697	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055595.1		-3.515046	-34	-34	42	42	NM_004192		3	6.605552	6.605552	47	0.060000	0	0	0	1	0	3	47	0.06
B4GALNT2	124872	broad.mit.edu	37	17	47233948	47233948	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:47233948G>A	ENST00000300404.2	+	5	720	c.661G>A	c.(661-663)Gat>Aat	p.D221N	B4GALNT2_ENST00000393354.2_Missense_Mutation_p.D161N|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.D135N	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	221					lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			TGAAGGACCCGATGCCCCCGT	0.562																																					GBM(124;244 1635 8663 18097 33175)	ENST00000300404.2											0			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(661-663)Gat>Aat	beta-1,4-N-acetyl-galactosaminyl transferase 2						174.0	156.0	162.0					17																	47233948		2203	4300	6503	SO:0001583	missense	124872			lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity	g.chr17:47233948G>A	AJ517770	AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	ENSG00000167080	ENSG00000167080	2.4.1.-	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	24136	24136	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			111730	111730	"""UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"""	GALGT2	"""UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"""	GALGT2		8782649, 12678917	8782649, 12678917	Standard	Standard	NM_153446	NM_153446		Approved	Sda, Cad	uc002ion.2	uc002ion.2	Q8NHY0	Q8NHY0	OTTHUMG00000161307	OTTHUMG00000161307	ENST00000300404.2:c.661G>A	17.37:g.47233948G>A	ENSP00000300404:p.Asp221Asn		B4GALNT2_ENST00000393354.2_Missense_Mutation_p.D161N|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.D135N	p.D221N	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	all cancers(6;0.000316)		5	720	+			221		B4DZE4|Q14CP1|Q86Y40	Missense_Mutation	SNP	ENST00000300404.2	37	c.661G>A	CCDS11544.1	.	.	.	.	.	.	.	.	.	.	G	4.019	0.001034	0.07819	.	.	ENSG00000167080	ENST00000504681;ENST00000393354;ENST00000300404	T;T;T	0.30182	1.54;1.54;1.54	3.68	0.539	0.17156	3.68	0.539	0.17156	.	1.417150	0.04375	N	0.359868	T	0.24353	0.0590	L	0.43152	1.355	0.09310	N	1	B;B	0.21688	0.014;0.059	B;B	0.11329	0.003;0.006	T	0.18116	-1.0347	10	0.29301	T	0.29	-1.2571	3.9275	0.09270	0.2324:0.2195:0.5481:0.0	.	161;221	Q8NHY0-2;Q8NHY0	.;B4GN2_HUMAN	N	135;161;221	ENSP00000425510:D135N;ENSP00000377022:D161N;ENSP00000300404:D221N	ENSP00000300404:D221N	D	+	1	0	0	B4GALNT2	44588947	44588947	0.004000	0.15560	0.060000	0.19600	0.017000	0.09413	0.311000	0.19380	0.165000	0.19558	-0.251000	0.11542	GAT		0.562	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364477.1		114.930334	-21	-21	101	101	NM_153446		35	115.014056	115.014056	30	0.538462	0	0	0	1	0	35	30	0.538462
PLA2G6	8398	broad.mit.edu	37	22	38539156	38539156	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr22:38539156C>T	ENST00000332509.3	-	4	748	c.565G>A	c.(565-567)Gtc>Atc	p.V189I	PLA2G6_ENST00000402064.1_Missense_Mutation_p.V189I|PLA2G6_ENST00000335539.3_Missense_Mutation_p.V189I|PLA2G6_ENST00000436218.1_Intron	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	189					cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)			breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	TAATGGAAGACGGTCTCTCCC	0.597																																						ENST00000332509.3											0			breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24						c.(565-567)Gtc>Atc	phospholipase A2, group VI (cytosolic, calcium-independent)						338.0	287.0	304.0					22																	38539156		2203	4300	6503	SO:0001583	missense	8398			cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane		g.chr22:38539156C>T	AF064594	AF064594	CCDS13967.1, CCDS33645.1	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			2013-01-10			ENSG00000184381	ENSG00000184381	ENSG00000184381	ENSG00000184381	3.1.1.4	"""Patatin-like phospholipase domain containing"", ""Parkinson disease"", ""Ankyrin repeat domain containing"""	"""Patatin-like phospholipase domain containing"", ""Parkinson disease"", ""Ankyrin repeat domain containing"""	9039	9039	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 2"""	"""neurodegeneration with brain iron accumulation 2"""	603604	603604						9417066, 16799181, 19029121	9417066, 16799181, 19029121	Standard	Standard	NM_001199562	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	uc003aux.1	O60733	O60733	OTTHUMG00000151246	OTTHUMG00000151246	ENST00000332509.3:c.565G>A	22.37:g.38539156C>T	ENSP00000333142:p.Val189Ile		PLA2G6_ENST00000335539.3_Missense_Mutation_p.V189I|PLA2G6_ENST00000436218.1_Intron|PLA2G6_ENST00000402064.1_Missense_Mutation_p.V189I	p.V189I	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN			4	748	-	Melanoma(58;0.045)		189		A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Missense_Mutation	SNP	ENST00000332509.3	37	c.565G>A	CCDS13967.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.03|13.03	2.116404|2.116404	0.37339|0.37339	.|.	.|.	ENSG00000184381|ENSG00000184381	ENST00000427114|ENST00000332509;ENST00000335539;ENST00000402064;ENST00000335538;ENST00000396860;ENST00000430886	.|T;T;T;T	.|0.64438	.|-0.1;-0.1;-0.1;-0.1	6.03|6.03	6.03|6.03	0.97812|0.97812	6.03|6.03	6.03|6.03	0.97812|0.97812	.|Ankyrin repeat-containing domain (3);	.|0.301152	.|0.38959	.|N	.|0.001506	T|T	0.44307|0.44307	0.1287|0.1287	N|N	0.11560|0.11560	0.145|0.145	0.80722|0.80722	D|D	1|1	.|B;B	.|0.30526	.|0.283;0.03	.|B;B	.|0.21917	.|0.035;0.037	T|T	0.35475|0.35475	-0.9787|-0.9787	5|10	.|0.29301	.|T	.|0.29	-14.6809|-14.6809	18.7374|18.7374	0.91761|0.91761	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|189;189	.|O60733-2;O60733	.|.;PA2G6_HUMAN	H|I	56|189;189;189;117;189;117	.|ENSP00000333142:V189I;ENSP00000335149:V189I;ENSP00000386100:V189I;ENSP00000395464:V117I	.|ENSP00000333142:V189I	R|V	-|-	2|1	0|0	0|0	PLA2G6|PLA2G6	36869102|36869102	36869102|36869102	1.000000|1.000000	0.71417|0.71417	0.929000|0.929000	0.37066|0.37066	0.772000|0.772000	0.43724|0.43724	4.365000|4.365000	0.59486|0.59486	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	CGT|GTC		0.597	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1		130.395707	-5	-5	285	285	NM_001004426		50	140.356003	140.356003	142	0.260417	0	0	0	1	0	50	142	0.260417
TNS3	64759	broad.mit.edu	37	7	47408251	47408251	+	Silent	SNP	C	C	T	rs374818505		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:47408251C>T	ENST00000398879.1	-	17	2358	c.1992G>A	c.(1990-1992)gcG>gcA	p.A664A	TNS3_ENST00000311160.9_Silent_p.A664A|TNS3_ENST00000355730.3_Silent_p.A424A			Q68CZ2	TENS3_HUMAN	tensin 3	664					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						TGGGTTTGAACGCTTTGCTGG	0.647																																						ENST00000398879.1											0			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						c.(1990-1992)gcG>gcA	tensin 3	C		1,4153		0,1,2076	112.0	129.0	123.0		1992	-10.9	0.0	7		123	0,8414		0,0,4207	no	coding-synonymous	TNS3	NM_022748.11		0,1,6283	TT,TC,CC		0.0,0.0241,0.0080		664/1446	47408251	1,12567	2077	4207	6284	SO:0001819	synonymous_variant	64759				focal adhesion	protein binding	g.chr7:47408251C>T	AF378756	AF378756	CCDS5506.2	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	"""SH2 domain containing"""	21616	21616	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	"""tumor endothelial marker 6"""	606825	606825	"""tensin-like SH2 domain-containing 1"""	TENS1	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	11559528	Standard	Standard	NM_022748	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	uc003tnw.3	Q68CZ2	Q68CZ2	OTTHUMG00000074075	OTTHUMG00000074075	ENST00000398879.1:c.1992G>A	7.37:g.47408251C>T			TNS3_ENST00000311160.9_Silent_p.A664A|TNS3_ENST00000355730.3_Silent_p.A424A	p.A664A			Q68CZ2	TENS3_HUMAN			17	2358	-			664		B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Silent	SNP	ENST00000398879.1	37	c.1992G>A	CCDS5506.2																																																																																									0.647	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1		55.166091	-34	-34	180	180	NM_022748		26	69.622395	69.622395	121	0.176871	0	0	0	1	0	26	121	0.176871
RBM22	55696	broad.mit.edu	37	5	150075212	150075212	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:150075212C>T	ENST00000199814.4	-	7	723	c.602G>A	c.(601-603)cGt>cAt	p.R201H	RBM22_ENST00000447771.2_Missense_Mutation_p.R152H|RBM22_ENST00000540000.1_Missense_Mutation_p.R152H	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	201					cellular response to drug (GO:0035690)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of RNA splicing (GO:0033120)|protein import into nucleus, translocation (GO:0000060)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|snRNA binding (GO:0017069)	p.R201H(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCGTAATAACGGTCTTTAAT	0.433																																						ENST00000199814.4											1	Substitution - Missense(1)	large_intestine(1)	breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17						c.(601-603)cGt>cAt	RNA binding motif protein 22						95.0	90.0	91.0					5																	150075212		2203	4300	6503	SO:0001583	missense	55696			protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding	g.chr5:150075212C>T	AL136933	AL136933	CCDS34278.1	CCDS34278.1	5q33.1	2013-02-12			2013-02-12			ENSG00000086589	ENSG00000086589	ENSG00000086589	ENSG00000086589		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	25503	25503	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 47"""	"""functional spliceosome-associated protein 47"""	612430	612430						20013661, 19133299	20013661, 19133299	Standard	Standard	NM_018047	NM_018047		Approved	FLJ10290, ZC3H16, fSAP47, Cwc2	uc031slu.1	uc031slu.1	Q9NW64	Q9NW64	OTTHUMG00000163589	OTTHUMG00000163589	ENST00000199814.4:c.602G>A	5.37:g.150075212C>T	ENSP00000199814:p.Arg201His		RBM22_ENST00000540000.1_Missense_Mutation_p.R152H|RBM22_ENST00000447771.2_Missense_Mutation_p.R152H	p.R201H	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	723	-		Medulloblastoma(196;0.167)	201		A6NDM5|B4DLI9|O95607	Missense_Mutation	SNP	ENST00000199814.4	37	c.602G>A	CCDS34278.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.460270	0.63401	.	.	ENSG00000086589	ENST00000199814;ENST00000540000;ENST00000447771	T;T;T	0.06528	3.29;3.29;3.29	5.61	4.75	0.60458	5.61	4.75	0.60458	.	0.115109	0.64402	D	0.000010	T	0.31544	0.0800	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.32693	-0.9897	10	0.72032	D	0.01	-1.7723	14.5396	0.67984	0.0:0.9294:0.0:0.0706	.	201	Q9NW64	RBM22_HUMAN	H	201;152;152	ENSP00000199814:R201H;ENSP00000441594:R152H;ENSP00000412118:R152H	ENSP00000199814:R201H	R	-	2	0	0	RBM22	150055405	150055405	1.000000	0.71417	0.990000	0.47175	0.013000	0.08279	7.729000	0.84864	1.374000	0.46228	-0.140000	0.14226	CGT		0.433	RBM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374431.2		116.396595	-26	-26	143	143	NM_018047		39	117.824137	117.824137	65	0.375000	0	0	0	1	0	39	65	0.375
NGFR	4804	broad.mit.edu	37	17	47590285	47590285	+	Missense_Mutation	SNP	G	G	A	rs534528579		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:47590285G>A	ENST00000172229.3	+	6	1323	c.1198G>A	c.(1198-1200)Gcc>Acc	p.A400T	RP5-1029K10.2_ENST00000514506.1_RNA|NGFR_ENST00000504201.1_Missense_Mutation_p.A306T	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	400	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|detection of temperature stimulus (GO:0016048)|glucose homeostasis (GO:0042593)|hair follicle morphogenesis (GO:0031069)|intracellular protein transport (GO:0006886)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell cycle (GO:0045786)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of hair follicle development (GO:0051799)|nerve development (GO:0021675)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of axonogenesis (GO:0050772)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cell surface (GO:0009986)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	death receptor activity (GO:0005035)|Rab GTPase binding (GO:0017137)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A400T(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					CACACTGGACGCCCTCCTGGC	0.682													G|||	1	0.000199681	0.0	0.0014	5008	,	,		12743	0.0		0.0	False		,,,				2504	0.0					ENST00000172229.3											1	Substitution - Missense(1)	large_intestine(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17						c.(1198-1200)Gcc>Acc	nerve growth factor receptor						20.0	21.0	21.0					17																	47590285		2201	4297	6498	SO:0001583	missense	4804			anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm		g.chr17:47590285G>A	M14764	M14764	CCDS11549.1	CCDS11549.1	17q21-q22	2013-05-22	2010-04-28		2013-05-22	2010-04-28		ENSG00000064300	ENSG00000064300	ENSG00000064300	ENSG00000064300		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	7809	7809	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""low affinity nerve growth factor receptor"", ""TNFR superfamily, member 16"""	"""low affinity nerve growth factor receptor"", ""TNFR superfamily, member 16"""	162010	162010	"""nerve growth factor receptor (TNFR superfamily, member 16)"""		"""nerve growth factor receptor (TNFR superfamily, member 16)"""			3022937, 3006050	3022937, 3006050	Standard	Standard	NM_002507	NM_002507		Approved	TNFRSF16, CD271, p75NTR	uc002ioz.4	uc002ioz.4	P08138	P08138	OTTHUMG00000161495	OTTHUMG00000161495	ENST00000172229.3:c.1198G>A	17.37:g.47590285G>A	ENSP00000172229:p.Ala400Thr		RP5-1029K10.2_ENST00000514506.1_RNA|NGFR_ENST00000504201.1_Missense_Mutation_p.A306T	p.A400T	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN			6	1323	+	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)		400	Death.	B2R961|B4E096	Missense_Mutation	SNP	ENST00000172229.3	37	c.1198G>A	CCDS11549.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.630411	0.46944	.	.	ENSG00000064300	ENST00000172229;ENST00000504201	D;D	0.85339	-1.97;-1.97	4.55	3.56	0.40772	4.55	3.56	0.40772	Death (3);DEATH-like (2);	0.684942	0.13412	N	0.389821	T	0.75206	0.3818	L	0.44542	1.39	0.35899	D	0.830258	P	0.43662	0.814	B	0.32022	0.139	T	0.73748	-0.3885	10	0.21540	T	0.41	-17.3422	11.0572	0.47925	0.097:0.0:0.903:0.0	.	400	P08138	TNR16_HUMAN	T	400;306	ENSP00000172229:A400T;ENSP00000421731:A306T	ENSP00000172229:A400T	A	+	1	0	0	NGFR	44945284	44945284	0.997000	0.39634	0.974000	0.42286	0.979000	0.70002	2.515000	0.45512	0.991000	0.38814	0.561000	0.74099	GCC		0.682	NGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365150.1		19.324203	-5	-5	19	19			7	19.338473	19.338473	8	0.466667	0	0	0	1	0	7	8	0.466667
AGAP1	116987	broad.mit.edu	37	2	236659132	236659132	+	Splice_Site	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:236659132G>A	ENST00000304032.8	+	6	1253	c.673G>A	c.(673-675)Gtt>Att	p.V225I	AGAP1_ENST00000409538.1_Splice_Site_p.V490I|AGAP1_ENST00000336665.5_Splice_Site_p.V225I|AGAP1_ENST00000428334.2_Splice_Site_p.V64I|AGAP1_ENST00000409457.1_Splice_Site_p.V225I	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	225	Small GTPase-like.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CTTCCAGGACGGTAAATGCGC	0.542																																						ENST00000304032.8											0			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(673-675)Gtt>Att	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1						187.0	158.0	168.0					2																	236659132		2203	4300	6503	SO:0001630	splice_region_variant	116987			protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr2:236659132G>A	AF413078	AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	16922	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608651	608651	"""centaurin, gamma 2"""	CENTG2	"""centaurin, gamma 2"""	CENTG2				Standard	Standard	NM_001037131	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	uc002vvs.3	Q9UPQ3	Q9UPQ3	OTTHUMG00000133293	OTTHUMG00000133293	ENST00000304032.8:c.673+1G>A	2.37:g.236659132G>A			AGAP1_ENST00000409538.1_Splice_Site_p.V490I|AGAP1_ENST00000428334.2_Splice_Site_p.V64I|AGAP1_ENST00000336665.5_Splice_Site_p.V225I|AGAP1_ENST00000409457.1_Splice_Site_p.V225I	p.V225I	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN			6	1253	+				Small GTPase-like.	B2RTX7|Q541S5|Q6P9D7|Q9NV93	Splice_Site	SNP	ENST00000304032.8	37	c.673G>A	CCDS33408.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.507040	0.85282	.	.	ENSG00000157985	ENST00000409457;ENST00000304032;ENST00000336665;ENST00000409538;ENST00000428334	T;T;T;T;T	0.18810	2.19;2.19;2.19;2.19;2.19	5.16	5.16	0.70880	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000001	T	0.39091	0.1065	L	0.51422	1.61	0.80722	D	1	D;D	0.60160	0.969;0.987	P;P	0.61658	0.595;0.892	T	0.02526	-1.1146	10	0.34782	T	0.22	.	19.0122	0.92877	0.0:0.0:1.0:0.0	.	225;225	Q9UPQ3-2;Q9UPQ3	.;AGAP1_HUMAN	I	225;225;225;490;64	ENSP00000387174:V225I;ENSP00000307634:V225I;ENSP00000338378:V225I;ENSP00000386897:V490I;ENSP00000411824:V64I	ENSP00000307634:V225I	V	+	1	0	0	AGAP1	236323871	236323871	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	9.548000	0.98103	2.581000	0.87130	0.561000	0.74099	GTT		0.542	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2		35.584281	-25	-25	87	87	NM_014914	Missense_Mutation	15	41.657676	41.657676	59	0.202703	0	0	0	1	0	15	59	0.202703
TNNT3	7140	broad.mit.edu	37	11	1950366	1950366	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:1950366C>T	ENST00000397301.1	+	8	140	c.132C>T	c.(130-132)gaC>gaT	p.D44D	TNNT3_ENST00000446240.1_Intron|TNNT3_ENST00000360603.3_Intron|TNNT3_ENST00000381548.3_Silent_p.D35D|TNNT3_ENST00000381579.3_Intron|TNNT3_ENST00000278317.6_Silent_p.D33D|TNNT3_ENST00000381549.3_Intron|TNNT3_ENST00000381589.3_Intron|TNNT3_ENST00000381561.4_Intron|TNNT3_ENST00000381558.1_Intron|TNNT3_ENST00000397304.2_Intron			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	44					ATP catabolic process (GO:0006200)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)|regulation of striated muscle contraction (GO:0006942)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|troponin complex (GO:0005861)	calcium-dependent protein binding (GO:0048306)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		CAGAGGAGGACGCGGAAGGTA	0.667																																						ENST00000278317.6											0			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19						c.(97-99)gaC>gaT	troponin T type 3 (skeletal, fast)						99.0	103.0	102.0					11																	1950366		2202	4299	6501	SO:0001819	synonymous_variant	7140			muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding	g.chr11:1950366C>T	M21984	M21984	CCDS7727.1, CCDS41594.1, CCDS41595.1, CCDS41596.1	CCDS7727.1, CCDS41594.1, CCDS41595.1, CCDS41596.1	11p15.5	2014-09-17	2005-09-12		2014-09-17	2005-09-12		ENSG00000130595	ENSG00000130595	ENSG00000130595	ENSG00000130595				11950	11950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""troponin-T3, skeletal, fast"""	"""troponin-T3, skeletal, fast"""	600692	600692	"""troponin T3, skeletal, fast"""		"""troponin T3, skeletal, fast"""			8172653	8172653	Standard	Standard	NM_001042782	NM_001042782		Approved	AMCD2B, DA2B, FSSV, DKFZp779M2348	uc001lup.4	uc001lup.4	P45378	P45378	OTTHUMG00000012475	OTTHUMG00000012475	ENST00000397301.1:c.132C>T	11.37:g.1950366C>T			TNNT3_ENST00000381589.3_Intron|TNNT3_ENST00000381549.3_Intron|TNNT3_ENST00000360603.3_Intron|TNNT3_ENST00000381579.3_Intron|TNNT3_ENST00000446240.1_Intron|TNNT3_ENST00000381561.4_Intron|TNNT3_ENST00000397301.1_Silent_p.D44D|TNNT3_ENST00000397304.2_Intron|TNNT3_ENST00000381548.3_Silent_p.D35D|TNNT3_ENST00000381558.1_Intron	p.D33D	NM_006757.3	NP_006748.1	P45378	TNNT3_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)	7	318	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	44		A8MQ76|A8MSW1|B3KPX3|B7WP64|B7ZL26|B7ZVV9|Q12975|Q12976|Q12977|Q12978|Q17RG9|Q6FH29|Q6N056|Q86TH6	Silent	SNP	ENST00000397301.1	37	c.99C>T																																																																																										0.667	TNNT3-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000142920.3		26.570240	-18	-18	123	123	NM_006757		12	30.988171	30.988171	45	0.210526	0	0	0	1	0	12	45	0.210526
ZMAT5	55954	broad.mit.edu	37	22	30134421	30134421	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr22:30134421C>T	ENST00000344318.3	-	5	397	c.281G>A	c.(280-282)cGa>cAa	p.R94Q	ZMAT5_ENST00000397781.3_Missense_Mutation_p.R94Q	NM_001003692.1	NP_001003692.1	Q9UDW3	ZMAT5_HUMAN	zinc finger, matrin-type 5	94					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(5;0.000597)|all cancers(5;0.0534)|Epithelial(10;0.0574)			CTCCCTGGCTCGCCTCTCCTC	0.612																																						ENST00000397781.3											0			large_intestine(1)|lung(1)|ovary(1)	3						c.(280-282)cGa>cAa	zinc finger, matrin-type 5						48.0	44.0	45.0					22																	30134421		2203	4300	6503	SO:0001583	missense	55954			mRNA processing	cytoplasm|U12-type spliceosomal complex	nucleic acid binding|zinc ion binding	g.chr22:30134421C>T			CCDS13868.1	CCDS13868.1	22q12.2	2013-09-20	2010-09-15		2013-09-20	2010-09-15		ENSG00000100319	ENSG00000100319	ENSG00000100319	ENSG00000100319		"""Zinc fingers, matrin-type"""	"""Zinc fingers, matrin-type"""	28046	28046	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""U11/U12 snRNP 20K"""	"""U11/U12 snRNP 20K"""								9847074	9847074	Standard	Standard	NM_019103	NM_019103		Approved	SNRNP20	uc003agn.3	uc003agn.3	Q9UDW3	Q9UDW3	OTTHUMG00000151292	OTTHUMG00000151292	ENST00000344318.3:c.281G>A	22.37:g.30134421C>T	ENSP00000344241:p.Arg94Gln		ZMAT5_ENST00000344318.3_Missense_Mutation_p.R94Q	p.R94Q	NM_019103.2	NP_061976.1	Q9UDW3	ZMAT5_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.000597)|all cancers(5;0.0534)|Epithelial(10;0.0574)		6	531	-			94		A8K9F6	Missense_Mutation	SNP	ENST00000344318.3	37	c.281G>A	CCDS13868.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.251849	0.39797	.	.	ENSG00000100319	ENST00000344318;ENST00000397781	.	.	.	5.14	2.94	0.34122	5.14	2.94	0.34122	.	0.112278	0.64402	D	0.000015	T	0.39545	0.1082	M	0.65498	2.005	0.44227	D	0.997061	P	0.39737	0.685	B	0.24541	0.054	T	0.32188	-0.9916	9	0.27785	T	0.31	-35.6225	8.5325	0.33344	0.1618:0.7525:0.0:0.0856	.	94	Q9UDW3	ZMAT5_HUMAN	Q	94	.	ENSP00000344241:R94Q	R	-	2	0	0	ZMAT5	28464421	28464421	1.000000	0.71417	1.000000	0.80357	0.604000	0.37047	3.140000	0.50585	1.401000	0.46761	0.603000	0.83216	CGA		0.612	ZMAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322114.1		11.163508	-7	-7	44	44	NM_019103		5	12.665866	12.665866	17	0.227273	0	0	0	1	0	5	17	0.227273
ERC1	23085	broad.mit.edu	37	12	1137128	1137128	+	Missense_Mutation	SNP	G	G	A	rs549963000		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:1137128G>A	ENST00000397203.2	+	2	465	c.59G>A	c.(58-60)cGt>cAt	p.R20H	ERC1_ENST00000355446.5_Missense_Mutation_p.R20H|ERC1_ENST00000546231.2_Missense_Mutation_p.R20H|ERC1_ENST00000360905.4_Missense_Mutation_p.R20H|ERC1_ENST00000543086.3_Missense_Mutation_p.R20H|ERC1_ENST00000589028.1_Missense_Mutation_p.R20H			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	20					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			AGCCCTGGGCGTTCACCCAGG	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		18809	0.0		0.0	False		,,,				2504	0.001					ENST00000397203.2											0			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(58-60)cGt>cAt	ELKS/RAB6-interacting/CAST family member 1						101.0	100.0	101.0					12																	1137128		2203	4300	6503	SO:0001583	missense	23085			I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	g.chr12:1137128G>A	AB015617	AB015617	CCDS8508.1, CCDS53732.1	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805	ENSG00000082805	ENSG00000082805				17072	17072	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607127	607127	"""RAB6 interacting protein 2"""	RAB6IP2	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	10697956, 11929610	Standard	Standard	NM_178040	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	uc001qjb.2	Q8IUD2	Q8IUD2	OTTHUMG00000130138	OTTHUMG00000130138	ENST00000397203.2:c.59G>A	12.37:g.1137128G>A	ENSP00000380386:p.Arg20His		ERC1_ENST00000360905.4_Missense_Mutation_p.R20H|ERC1_ENST00000589028.1_Missense_Mutation_p.R20H|ERC1_ENST00000355446.5_Missense_Mutation_p.R20H|ERC1_ENST00000543086.3_Missense_Mutation_p.R20H|ERC1_ENST00000546231.2_Missense_Mutation_p.R20H	p.R20H			Q8IUD2	RB6I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		2	465	+	all_epithelial(11;0.0698)|Ovarian(42;0.107)		20		A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	ENST00000397203.2	37	c.59G>A	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375417	0.82682	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000299183;ENST00000543086;ENST00000542302;ENST00000545948;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394	D;D;D;D;D;D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39	5.61	5.61	0.85477	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.91935	0.7446	L	0.34521	1.04	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.994;0.994;0.984	D	0.92721	0.6191	10	0.87932	D	0	-9.6219	19.6214	0.95658	0.0:0.0:1.0:0.0	.	20;20;20	Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;RB6I2_HUMAN	H	20	ENSP00000340054:R20H;ENSP00000380386:R20H;ENSP00000438546:R20H;ENSP00000445336:R20H;ENSP00000442976:R20H;ENSP00000442739:R20H;ENSP00000347621:R20H;ENSP00000354158:R20H;ENSP00000410064:R20H	ENSP00000299183:R20H	R	+	2	0	0	ERC1	1007389	1007389	1.000000	0.71417	0.998000	0.56505	0.945000	0.59286	9.782000	0.99034	2.644000	0.89710	0.655000	0.94253	CGT		0.582	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2		134.485266	-7	-7	94	94	NM_015064		44	134.961218	134.961218	59	0.427184	0	0	0	1	0	44	59	0.427184
ZMAT1	84460	broad.mit.edu	37	X	101159302	101159302	+	Splice_Site	SNP	G	G	A	rs141888312		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:101159302G>A	ENST00000372782.3	-	3	170	c.123C>T	c.(121-123)gaC>gaT	p.D41D	ZMAT1_ENST00000458570.1_De_novo_Start_OutOfFrame|ZMAT1_ENST00000540921.1_Splice_Site_p.D41D	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	41						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TCCAAATGGCGTCTGTGAATA	0.299																																						ENST00000458570.1											0			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22							zinc finger, matrin-type 1	G		0,3833		0,0,0,1631,571	75.0	67.0	69.0		123	2.3	0.1	X	dbSNP_134	69	2,6723		0,1,1,2426,1870	no	coding-synonymous-near-splice	ZMAT1	NM_001011657.3		0,1,1,4057,2441	AA,AG,A,GG,G		0.0297,0.0,0.0189		41/639	101159302	2,10556	2202	4298	6500	SO:0001630	splice_region_variant	84460				nucleus	zinc ion binding	g.chrX:101159302G>A	Z69304	Z69304	CCDS35348.1	CCDS35348.1	Xq21	2012-10-05	2010-09-15		2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432	ENSG00000166432	ENSG00000166432		"""Zinc fingers, matrin-type"""	"""Zinc fingers, matrin-type"""	29377	29377	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001011657	NM_001011657		Approved	KIAA1789	uc011mrl.2	uc011mrl.2	Q5H9K5	Q5H9K5	OTTHUMG00000022044	OTTHUMG00000022044	ENST00000372782.3:c.122-1C>T	X.37:g.101159302G>A			ZMAT1_ENST00000540921.1_Splice_Site_p.D41D|ZMAT1_ENST00000372782.3_Splice_Site_p.D41D		NM_001282401.1	NP_001269330.1	A7MD47	A7MD47_HUMAN			0	316	-					Q8NDS3|Q96JN6	Translation_Start_Site	SNP	ENST00000372782.3	37		CCDS35348.1																																																																																									0.299	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1		10.190169	3	3	43	43		Silent	4	11.467911	11.467911	14	0.222222	0	0	0	1	0	4	14	0.222222
GPR101	83550	broad.mit.edu	37	X	136112961	136112961	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:136112961C>T	ENST00000298110.1	-	1	872	c.873G>A	c.(871-873)acG>acA	p.T291T		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	291						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					CACTGGTCCCCGTGCTTCCTT	0.612																																						ENST00000298110.1											0			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42						c.(871-873)acG>acA	G protein-coupled receptor 101						209.0	142.0	165.0					X																	136112961		2203	4300	6503	SO:0001819	synonymous_variant	83550				integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:136112961C>T	AF411115	AF411115	CCDS14662.1	CCDS14662.1	Xq26.3	2014-01-30			2014-01-30			ENSG00000165370	ENSG00000165370	ENSG00000165370	ENSG00000165370		"""GPCR / Class A : Orphans"""	"""GPCR / Class A : Orphans"""	14963	14963	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300393	300393						11574155	11574155	Standard	Standard	NM_054021	NM_054021		Approved		uc011mwh.2	uc011mwh.2	Q96P66	Q96P66	OTTHUMG00000022521	OTTHUMG00000022521	ENST00000298110.1:c.873G>A	X.37:g.136112961C>T				p.T291T	NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN			1	872	-	Acute lymphoblastic leukemia(192;0.000127)		291		Q5JSM8|Q8NG93	Silent	SNP	ENST00000298110.1	37	c.873G>A	CCDS14662.1																																																																																									0.612	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1		99.355377	-15	-15	104	104			33	100.117324	100.117324	50	0.397590	0	0	0	1	0	33	50	0.39759
JPH2	57158	broad.mit.edu	37	20	42788529	42788529	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr20:42788529G>A	ENST00000372980.3	-	2	1770	c.898C>T	c.(898-900)Cgc>Tgc	p.R300C		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	300					calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			AAGCCCGAGCGTTTGTCGTTC	0.687																																						ENST00000372980.3											0			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32						c.(898-900)Cgc>Tgc	junctophilin 2						58.0	51.0	53.0					20																	42788529		2203	4300	6503	SO:0001583	missense	57158			calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr20:42788529G>A	AL034419	AL034419	CCDS13325.1, CCDS13326.1	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			2014-09-17			ENSG00000149596	ENSG00000149596	ENSG00000149596	ENSG00000149596				14202	14202	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605267	605267						10891348, 10949023	10891348, 10949023	Standard	Standard	XM_006723832	XM_006723832		Approved	JP-2	uc002xli.1	uc002xli.1	Q9BR39	Q9BR39	OTTHUMG00000033037	OTTHUMG00000033037	ENST00000372980.3:c.898C>T	20.37:g.42788529G>A	ENSP00000362071:p.Arg300Cys			p.R300C	NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		2	1770	-		Myeloproliferative disorder(115;0.0122)	300		E1P5X1|O95913|Q5JY74|Q9UJN4	Missense_Mutation	SNP	ENST00000372980.3	37	c.898C>T	CCDS13325.1	.	.	.	.	.	.	.	.	.	.	g	16.62	3.175181	0.57692	.	.	ENSG00000149596	ENST00000372980	T	0.59638	0.25	3.1	3.1	0.35709	3.1	3.1	0.35709	.	0.000000	0.85682	D	0.000000	T	0.75700	0.3885	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80957	-0.1150	10	0.87932	D	0	.	14.3498	0.66694	0.0:0.0:1.0:0.0	.	300	Q9BR39	JPH2_HUMAN	C	300	ENSP00000362071:R300C	ENSP00000362071:R300C	R	-	1	0	0	JPH2	42221943	42221943	1.000000	0.71417	0.998000	0.56505	0.192000	0.23643	9.137000	0.94496	1.545000	0.49373	0.298000	0.19748	CGC		0.687	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1		6.616093	-14	-14	20	20			3	7.872025	7.872025	12	0.200000	0	0	0	1	0	3	12	0.2
ANKRD50	57182	broad.mit.edu	37	4	125592546	125592546	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr4:125592546G>A	ENST00000504087.1	-	4	2923	c.1886C>T	c.(1885-1887)gCa>gTa	p.A629V	ANKRD50_ENST00000515641.1_Missense_Mutation_p.A450V	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	629										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						ATAAAGTAGTGCAGAAACTAC	0.453																																						ENST00000504087.1											0			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						c.(1885-1887)gCa>gTa	ankyrin repeat domain 50						127.0	116.0	120.0					4																	125592546		2203	4300	6503	SO:0001583	missense	57182						g.chr4:125592546G>A	AB033049	AB033049	CCDS34060.1, CCDS54802.1	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			2013-01-10			ENSG00000151458	ENSG00000151458	ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	"""Ankyrin repeat domain containing"""	29223	29223	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_020337	NM_020337		Approved	KIAA1223	uc010inw.3	uc010inw.3	Q9ULJ7	Q9ULJ7	OTTHUMG00000161398	OTTHUMG00000161398	ENST00000504087.1:c.1886C>T	4.37:g.125592546G>A	ENSP00000425658:p.Ala629Val		ANKRD50_ENST00000515641.1_Missense_Mutation_p.A450V	p.A629V	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN			4	2923	-			629		A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	c.1886C>T	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.514877	0.27123	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.64618	-0.11;-0.06	5.21	5.21	0.72293	5.21	5.21	0.72293	Ankyrin repeat-containing domain (4);	0.130432	0.50627	D	0.000115	T	0.52208	0.1720	N	0.10809	0.05	0.80722	D	1	P	0.45986	0.87	P	0.46718	0.525	T	0.54984	-0.8211	10	0.35671	T	0.21	.	18.9425	0.92610	0.0:0.0:1.0:0.0	.	629	Q9ULJ7	ANR50_HUMAN	V	629;450	ENSP00000425658:A629V;ENSP00000425355:A450V	ENSP00000425658:A629V	A	-	2	0	0	ANKRD50	125811996	125811996	1.000000	0.71417	0.813000	0.32504	0.342000	0.28953	7.095000	0.76952	2.714000	0.92807	0.585000	0.79938	GCA		0.453	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1		84.024732	-9	-9	93	93	NM_020337		30	85.028998	85.028998	49	0.379747	0	0	0	1	0	30	49	0.379747
MLC1	23209	broad.mit.edu	37	22	50515862	50515862	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr22:50515862G>A	ENST00000311597.5	-	6	1099	c.493C>T	c.(493-495)Cgg>Tgg	p.R165W	MLC1_ENST00000538737.1_Missense_Mutation_p.R131W|MLC1_ENST00000395876.2_Missense_Mutation_p.R165W|MLC1_ENST00000535444.1_Missense_Mutation_p.R86W|MLC1_ENST00000431262.2_Missense_Mutation_p.R135W|MLC1_ENST00000450140.2_Missense_Mutation_p.R113W	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	165					caveolin-mediated endocytosis (GO:0072584)|cellular response to cholesterol (GO:0071397)|ion transport (GO:0006811)|positive regulation of intracellular transport (GO:0032388)|protein oligomerization (GO:0051259)|regulation of response to osmotic stress (GO:0047484)|transport (GO:0006810)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		TCGCTGGACCGTGCAGCGATG	0.632																																						ENST00000311597.5											0			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18						c.(493-495)Cgg>Tgg	megalencephalic leukoencephalopathy with subcortical cysts 1						77.0	59.0	65.0					22																	50515862		2203	4300	6503	SO:0001583	missense	23209				basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity	g.chr22:50515862G>A	D25217	D25217	CCDS14083.1	CCDS14083.1	22q13.33	2007-03-20			2007-03-20			ENSG00000100427	ENSG00000100427	ENSG00000100427	ENSG00000100427				17082	17082	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605908	605908						7584026, 7584028	7584026, 7584028	Standard	Standard	XR_430476	XR_430476		Approved	MLC, KIAA0027, LVM, VL	uc003bjg.1	uc003bjg.1	Q15049	Q15049	OTTHUMG00000150236	OTTHUMG00000150236	ENST00000311597.5:c.493C>T	22.37:g.50515862G>A	ENSP00000310375:p.Arg165Trp		MLC1_ENST00000431262.2_Missense_Mutation_p.R135W|MLC1_ENST00000535444.1_Missense_Mutation_p.R86W|MLC1_ENST00000450140.2_Missense_Mutation_p.R113W|MLC1_ENST00000538737.1_Missense_Mutation_p.R131W|MLC1_ENST00000395876.2_Missense_Mutation_p.R165W	p.R165W	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)	6	1099	-		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)	165		B3KW61|B7Z659|Q5JZ83|Q8TAG4|Q96RP5|Q9UGY8	Missense_Mutation	SNP	ENST00000311597.5	37	c.493C>T	CCDS14083.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.906176	0.52333	.	.	ENSG00000100427	ENST00000395876;ENST00000311597;ENST00000538737;ENST00000431262;ENST00000535444;ENST00000450140;ENST00000442311	D;D;D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33;-2.33;-2.33	4.38	3.22	0.36961	4.38	3.22	0.36961	.	0.000000	0.85682	D	0.000000	D	0.91209	0.7230	M	0.70275	2.135	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.997;0.996;0.997	D	0.90994	0.4837	10	0.87932	D	0	-5.6194	8.6789	0.34196	0.0:0.0:0.6515:0.3485	.	131;135;113;165	F5H1B9;B7Z659;B7Z1X1;Q15049	.;.;.;MLC1_HUMAN	W	165;165;131;135;86;113;135	ENSP00000379216:R165W;ENSP00000310375:R165W;ENSP00000445805:R131W;ENSP00000415877:R135W;ENSP00000438910:R86W;ENSP00000412448:R113W;ENSP00000401385:R135W	ENSP00000310375:R165W	R	-	1	2	2	MLC1	48857989	48857989	0.998000	0.40836	0.895000	0.35142	0.247000	0.25773	2.843000	0.48238	2.124000	0.65301	0.655000	0.94253	CGG		0.632	MLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316979.2		54.173046	-5	-5	55	55	NM_015166		17	54.225771	54.225771	20	0.459459	0	0	0	1	0	17	20	0.459459
HTT	3064	broad.mit.edu	37	4	3123053	3123053	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr4:3123053C>T	ENST00000355072.5	+	9	1312	c.1167C>T	c.(1165-1167)ccC>ccT	p.P389P		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	389					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CGCCTCCACCCGAGCTTCTGC	0.567																																						ENST00000355072.5											0			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(1165-1167)ccC>ccT	huntingtin						65.0	66.0	66.0					4																	3123053		1946	4153	6099	SO:0001819	synonymous_variant	3064			establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3123053C>T	L12392	L12392	CCDS43206.1	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	"""Endogenous ligands"""	4851	4851	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613004	613004	"""huntingtin (Huntington disease)"""	HD	"""huntingtin (Huntington disease)"""	HD		8458085	8458085	Standard	Standard	NM_002111	NM_002111		Approved	IT15	uc021xkv.1	uc021xkv.1	P42858	P42858	OTTHUMG00000159916	OTTHUMG00000159916	ENST00000355072.5:c.1167C>T	4.37:g.3123053C>T				p.P389P	NM_002111.6	NP_002102	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	9	1312	+		all_epithelial(65;0.18)	389		Q9UQB7	Silent	SNP	ENST00000355072.5	37	c.1167C>T	CCDS43206.1																																																																																									0.567	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2		54.975701	21	21	57	57	NM_002111		17	54.975701	54.975701	17	0.500000	0	0	0	1	0	17	17	0.5
SLC9A3	6550	broad.mit.edu	37	5	476456	476456	+	Missense_Mutation	SNP	G	G	A	rs150973602	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:476456G>A	ENST00000264938.3	-	13	1937	c.1928C>T	c.(1927-1929)aCg>aTg	p.T643M	CTD-2228K2.7_ENST00000607005.1_RNA|CTD-2228K2.7_ENST00000607286.1_RNA|SLC9A3_ENST00000514375.1_Missense_Mutation_p.T634M|CTD-2228K2.7_ENST00000606288.1_RNA|CTD-2228K2.7_ENST00000606319.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	643	Interaction with PDZD3. {ECO:0000250}.				ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CTCGTCCTCCGTGGGCGTGAG	0.612																																						ENST00000264938.3											0			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(1927-1929)aCg>aTg	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	119.0	117.0	118.0		1928	-6.5	0.0	5	dbSNP_134	118	0,8600		0,0,4300	no	missense	SLC9A3	NM_004174.2	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	643/835	476456	1,13005	2203	4300	6503	SO:0001583	missense	6550				cell surface|integral to membrane	sodium:hydrogen antiporter activity	g.chr5:476456G>A			CCDS3855.1, CCDS64116.1	CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230	ENSG00000066230	ENSG00000066230		"""Solute carriers"""	"""Solute carriers"""	11073	11073	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			182307	182307	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3		8096830	8096830	Standard	Standard	NM_004174	NM_004174		Approved		uc003jbe.2	uc003jbe.2	P48764	P48764	OTTHUMG00000090315	OTTHUMG00000090315	ENST00000264938.3:c.1928C>T	5.37:g.476456G>A	ENSP00000264938:p.Thr643Met		CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.7_ENST00000606319.1_RNA|SLC9A3_ENST00000514375.1_Missense_Mutation_p.T634M	p.T643M	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		13	1937	-			643	Interaction with PDZD3 (By similarity).	B7ZKR2|E9PF67|Q3MIW3	Missense_Mutation	SNP	ENST00000264938.3	37	c.1928C>T	CCDS3855.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.270121	0.23221	2.27E-4	0.0	ENSG00000066230	ENST00000264938;ENST00000514375	T;T	0.77358	-1.09;-1.09	4.85	-6.47	0.01902	4.85	-6.47	0.01902	.	1.774650	0.02765	N	0.119060	T	0.61198	0.2328	N	0.22421	0.69	0.09310	N	1	D;P	0.57571	0.98;0.923	B;B	0.40329	0.326;0.266	T	0.64812	-0.6319	10	0.66056	D	0.02	.	6.968	0.24632	0.0:0.3441:0.2995:0.3565	.	634;643	E9PF67;P48764	.;SL9A3_HUMAN	M	643;634	ENSP00000264938:T643M;ENSP00000422983:T634M	ENSP00000264938:T643M	T	-	2	0	0	SLC9A3	529456	529456	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	-0.709000	0.05030	-1.541000	0.01727	-0.499000	0.04595	ACG		0.612	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2		113.363144	-31	-31	130	130	NM_004174		37	113.673254	113.673254	48	0.435294	0	0	0	1	0	37	48	0.435294
NCOA6	23054	broad.mit.edu	37	20	33328468	33328468	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr20:33328468G>A	ENST00000374796.2	-	12	8162	c.5592C>T	c.(5590-5592)ctC>ctT	p.L1864L	NCOA6_ENST00000359003.2_Silent_p.L1864L			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1864	EP300/CRSP3-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CTGTTCCCATGAGCCCCGGAG	0.542																																						ENST00000374796.2											0			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(5590-5592)ctC>ctT	nuclear receptor coactivator 6						107.0	109.0	108.0					20																	33328468		2203	4300	6503	SO:0001819	synonymous_variant	23054			brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33328468G>A	AF128458	AF128458	CCDS13241.1, CCDS74720.1	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			2008-08-01			ENSG00000198646	ENSG00000198646	ENSG00000198646	ENSG00000198646				15936	15936	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299	605299						8724849, 8263591	8724849, 8263591	Standard	Standard	NM_014071	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	uc002xaw.3	Q14686	Q14686	OTTHUMG00000032311	OTTHUMG00000032311	ENST00000374796.2:c.5592C>T	20.37:g.33328468G>A			NCOA6_ENST00000359003.2_Silent_p.L1864L	p.L1864L			Q14686	NCOA6_HUMAN			12	8162	-			1864	EP300/CRSP3-binding region.	A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.5592C>T	CCDS13241.1																																																																																									0.542	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2		105.731545	-13	-13	87	87	NM_014071		35	105.744744	105.744744	33	0.514706	0	0	0	1	0	35	33	0.514706
VPS72	6944	broad.mit.edu	37	1	151149201	151149201	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:151149201G>A	ENST00000354473.4	-	6	1083	c.1047C>T	c.(1045-1047)gcC>gcT	p.A349A	TMOD4_ENST00000601585.1_5'Flank|VPS72_ENST00000496809.1_5'Flank|TMOD4_ENST00000416280.2_5'Flank			Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	338	Poly-Pro.|Pro-rich.				chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CGGGGCCCAGGGCTGAGGCAG	0.572																																					Pancreas(109;1131 2287 3209 24201)	ENST00000354473.4											0			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(1045-1047)gcC>gcT	vacuolar protein sorting 72 homolog (S. cerevisiae)						76.0	83.0	81.0					1																	151149201		2203	4300	6503	SO:0001819	synonymous_variant	6944			chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:151149201G>A	D43642	D43642	CCDS989.1, CCDS59201.1	CCDS989.1, CCDS59201.1	1q21	2008-02-05	2006-12-19	2005-09-08	2008-02-05	2006-12-19	2005-09-08	ENSG00000163159	ENSG00000163159	ENSG00000163159	ENSG00000163159				11644	11644	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600607	600607	"""transcription factor-like 1"", ""vacuolar protein sorting 72 (yeast)"""	TCFL1	"""transcription factor-like 1"", ""vacuolar protein sorting 72 (yeast)"""	TCFL1		7702631	7702631	Standard	Standard	NM_001271087	NM_001271087		Approved	YL-1, YL1, Swc2	uc001exe.2	uc001exe.2	Q15906	Q15906	OTTHUMG00000012345	OTTHUMG00000012345	ENST00000354473.4:c.1047C>T	1.37:g.151149201G>A				p.A349A			Q15906	VPS72_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		6	1083	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		338	Poly-Pro.|Pro-rich.	A6NLK9|A6PW55|Q53GJ2|Q5U0R4	Silent	SNP	ENST00000354473.4	37	c.1047C>T	CCDS59201.1																																																																																									0.572	VPS72-002	NOVEL	mRNA_start_NF|basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000034394.3		-6.423066	14	14	112	112	NM_005997		3	6.461739	6.461739	57	0.050000	0	0	0	1	0	3	57	0.05
MED9	55090	broad.mit.edu	37	17	17394702	17394702	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:17394702G>A	ENST00000268711.3	+	2	390	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K		NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	112						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.E112K(1)		cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CCTGAGCCCCGAACAGCAGCA	0.582																																						ENST00000268711.3											1	Substitution - Missense(1)	endometrium(1)	cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(334-336)Gaa>Aaa	mediator complex subunit 9						81.0	78.0	79.0					17																	17394702		2203	4300	6503	SO:0001583	missense	55090			regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding	g.chr17:17394702G>A	BC000647	BC000647	CCDS11184.1	CCDS11184.1	17p11.2	2007-07-30	2007-07-30		2007-07-30	2007-07-30		ENSG00000141026	ENSG00000141026	ENSG00000141026	ENSG00000141026				25487	25487	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609878	609878	"""mediator of RNA polymerase II transcription, subunit 9 homolog (S. cerevisiae)"""		"""mediator of RNA polymerase II transcription, subunit 9 homolog (S. cerevisiae)"""			11997338	11997338	Standard	Standard	NM_018019	NM_018019		Approved	FLJ10193, MED25	uc002grh.1	uc002grh.1	Q9NWA0	Q9NWA0	OTTHUMG00000059293	OTTHUMG00000059293	ENST00000268711.3:c.334G>A	17.37:g.17394702G>A	ENSP00000268711:p.Glu112Lys			p.E112K	NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN			2	390	+			112			Missense_Mutation	SNP	ENST00000268711.3	37	c.334G>A	CCDS11184.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.033615	0.93575	.	.	ENSG00000141026	ENST00000268711	.	.	.	4.71	4.71	0.59529	4.71	4.71	0.59529	.	0.189070	0.44902	D	0.000401	T	0.63733	0.2536	M	0.78637	2.42	0.80722	D	1	D	0.53151	0.958	P	0.44597	0.454	T	0.72877	-0.4159	9	0.72032	D	0.01	-33.7092	16.8296	0.85940	0.0:0.0:1.0:0.0	.	112	Q9NWA0	MED9_HUMAN	K	112	.	ENSP00000268711:E112K	E	+	1	0	0	MED9	17335427	17335427	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	5.734000	0.68580	2.448000	0.82819	0.655000	0.94253	GAA		0.582	MED9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131669.2		78.172852	-1	-1	102	102	NM_018019		25	78.189528	78.189528	27	0.480769	0	0	0	1	0	25	27	0.480769
NUFIP2	57532	broad.mit.edu	37	17	27613317	27613317	+	Silent	SNP	G	G	A	rs150088850		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:27613317G>A	ENST00000225388.4	-	2	1753	c.1695C>T	c.(1693-1695)taC>taT	p.Y565Y	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	565						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.Y565Y(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			TCTCCAGCTCGTAAGCCTTGG	0.463																																						ENST00000225388.4											1	Substitution - coding silent(1)	lung(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24						c.(1693-1695)taC>taT	nuclear fragile X mental retardation protein interacting protein 2	G		0,4406		0,0,2203	85.0	84.0	84.0		1695	4.9	1.0	17	dbSNP_134	84	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	NUFIP2	NM_020772.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		565/696	27613317	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	57532				nucleus|polysomal ribosome	protein binding|RNA binding	g.chr17:27613317G>A	AB037742	AB037742	CCDS32600.1	CCDS32600.1	17q11.1	2006-03-01			2006-03-01				ENSG00000108256		ENSG00000108256				17634	17634	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609356	609356						12837692, 16407062	12837692, 16407062	Standard	Standard	NM_020772	NM_020772		Approved	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP	uc002hdy.4	uc002hdy.4	Q7Z417	Q7Z417			ENST00000225388.4:c.1695C>T	17.37:g.27613317G>A			NUFIP2_ENST00000579665.1_Intron	p.Y565Y	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)		2	1753	-			565		A1L3A6|Q9P2M5	Silent	SNP	ENST00000225388.4	37	c.1695C>T	CCDS32600.1																																																																																									0.463	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447015.2		39.062160	3	3	83	83	NM_020772		16	43.982203	43.982203	55	0.225352	0	0	0	1	0	16	55	0.225352
C6orf136	221545	broad.mit.edu	37	6	30617438	30617438	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:30617438G>A	ENST00000376473.5	+	2	335	c.176G>A	c.(175-177)cGc>cAc	p.R59H	C6orf136_ENST00000493705.1_3'UTR|AL662800.2_ENST00000583820.1_RNA|C6orf136_ENST00000376471.4_Intron|C6orf136_ENST00000293604.6_Missense_Mutation_p.R240H|C6orf136_ENST00000528347.2_5'Flank	NM_001109938.2	NP_001103408.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136	59						mitochondrion (GO:0005739)				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						CTGCCCCCACGCCTTCCCACC	0.612																																						ENST00000293604.6											0			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						c.(718-720)cGc>cAc	chromosome 6 open reading frame 136						120.0	127.0	125.0					6																	30617438		2080	4220	6300	SO:0001583	missense	221545						g.chr6:30617438G>A	BC016167	BC016167	CCDS4684.1, CCDS43443.1, CCDS4684.2, CCDS54979.1	CCDS4684.1, CCDS43443.1, CCDS4684.2, CCDS54979.1	6p21.32	2012-02-06			2012-02-06			ENSG00000204564	ENSG00000204564	ENSG00000204564	ENSG00000204564				21301	21301	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001109938	NM_001109938		Approved	Em:AB023049.8	uc003nqx.4	uc003nqx.4	Q5SQH8	Q5SQH8	OTTHUMG00000031221	OTTHUMG00000031221	ENST00000376473.5:c.176G>A	6.37:g.30617438G>A	ENSP00000365656:p.Arg59His		C6orf136_ENST00000493705.1_3'UTR|C6orf136_ENST00000376473.5_Missense_Mutation_p.R59H|C6orf136_ENST00000376471.4_Intron	p.R240H	NM_001161376.1	NP_001154848.1	Q5SQH8	CF136_HUMAN			2	912	+			59		A9R9P9|F8VX15|Q5SU01|Q6ZSB7|Q8TB84	Missense_Mutation	SNP	ENST00000376473.5	37	c.719G>A	CCDS43443.1	.	.	.	.	.	.	.	.	.	.	G	8.403	0.842316	0.16963	.	.	ENSG00000204564	ENST00000293604;ENST00000376473;ENST00000446773	.	.	.	5.51	-5.96	0.02234	5.51	-5.96	0.02234	.	2.161400	0.01898	N	0.038983	T	0.05227	0.0139	N	0.12182	0.205	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.12915	-1.0529	9	0.36615	T	0.2	0.8566	1.4301	0.02332	0.4817:0.1262:0.1846:0.2075	.	240;59	F8VX15;Q5SQH8	.;CF136_HUMAN	H	240;59;177	.	ENSP00000293604:R240H	R	+	2	0	0	C6orf136	30725417	30725417	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	-0.939000	0.03933	-0.871000	0.04042	0.557000	0.71058	CGC		0.612	C6orf136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076457.4		-9.060148	-33	-33	120	120	NM_145029		4	7.289579	7.289579	73	0.051948	0	0	0	1	0	4	73	0.051948
ZBTB7A	51341	broad.mit.edu	37	19	4054867	4054867	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:4054867C>T	ENST00000322357.4	-	2	642	c.364G>A	c.(364-366)Gtg>Atg	p.V122M	ZBTB7A_ENST00000601588.1_Missense_Mutation_p.V122M	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	122					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGGCGCACACGTGGCTCACG	0.677																																						ENST00000322357.4											0			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14						c.(364-366)Gtg>Atg	zinc finger and BTB domain containing 7A						22.0	21.0	21.0					19																	4054867		2189	4295	6484	SO:0001583	missense	51341			cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding	g.chr19:4054867C>T	AF000561	AF000561	CCDS12119.1	CCDS12119.1	19p13.3	2013-01-08		2005-04-07	2013-01-08		2005-04-07		ENSG00000178951		ENSG00000178951		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18078	18078	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein"", ""lymphoma related factor"""	"""zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein"", ""lymphoma related factor"""	605878	605878	"""zinc finger and BTB domain containing 7"""	ZBTB7	"""zinc finger and BTB domain containing 7"""	ZBTB7		9973611, 9927193	9973611, 9927193	Standard	Standard	NM_015898	NM_015898		Approved	FBI-1, LRF, DKFZp547O146, pokemon, ZNF857A	uc002lzi.3	uc002lzi.3	O95365	O95365			ENST00000322357.4:c.364G>A	19.37:g.4054867C>T	ENSP00000323670:p.Val122Met		ZBTB7A_ENST00000601588.1_Missense_Mutation_p.V122M	p.V122M	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)	2	642	-		Hepatocellular(1079;0.137)	122		D6W619|O00456|Q14D41|Q5XG86	Missense_Mutation	SNP	ENST00000322357.4	37	c.364G>A	CCDS12119.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.555856	0.86231	.	.	ENSG00000178951	ENST00000322357	T	0.67865	-0.29	5.07	5.07	0.68467	5.07	5.07	0.68467	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.64402	D	0.000004	T	0.78470	0.4288	L	0.53561	1.675	0.54753	D	0.999986	D	0.89917	1.0	D	0.71656	0.974	T	0.80209	-0.1477	10	0.62326	D	0.03	.	17.417	0.87503	0.0:1.0:0.0:0.0	.	122	O95365	ZBT7A_HUMAN	M	122	ENSP00000323670:V122M	ENSP00000323670:V122M	V	-	1	0	0	ZBTB7A	4005867	4005867	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.594000	0.82698	2.353000	0.79882	0.462000	0.41574	GTG		0.677	ZBTB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457621.2		12.198189	-10	-10	12	12	NM_015898		4	12.285584	12.285584	6	0.400000	0	0	0	1	0	4	6	0.4
PLCD4	84812	broad.mit.edu	37	2	219483520	219483520	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:219483520C>T	ENST00000450993.2	+	4	739	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C	PLCD4_ENST00000417849.1_Missense_Mutation_p.R134C|U3_ENST00000516996.1_RNA|PLCD4_ENST00000432688.1_Missense_Mutation_p.R134C	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	134	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CCATCAGGAGCGCCTGGACCA	0.577																																						ENST00000450993.2											0			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23						c.(400-402)Cgc>Tgc	phospholipase C, delta 4						19.0	20.0	20.0					2																	219483520		2078	4203	6281	SO:0001583	missense	84812			intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:219483520C>T	AI366170	AI366170	CCDS46516.1	CCDS46516.1	2q35	2013-01-10			2013-01-10			ENSG00000115556	ENSG00000115556	ENSG00000115556	ENSG00000115556	3.1.4.11	"""EF-hand domain containing"""	"""EF-hand domain containing"""	9062	9062	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605939	605939						10702683, 9056492	10702683, 9056492	Standard	Standard	NM_032726	NM_032726		Approved		uc021vwx.1	uc021vwx.1	Q9BRC7	Q9BRC7	OTTHUMG00000154743	OTTHUMG00000154743	ENST00000450993.2:c.400C>T	2.37:g.219483520C>T	ENSP00000388631:p.Arg134Cys		PLCD4_ENST00000417849.1_Missense_Mutation_p.R134C|PLCD4_ENST00000432688.1_Missense_Mutation_p.R134C	p.R134C	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	4	739	+		Renal(207;0.0915)	134	EF-hand 1.	Q53FS8	Missense_Mutation	SNP	ENST00000450993.2	37	c.400C>T	CCDS46516.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.628514	0.46944	.	.	ENSG00000115556	ENST00000450993;ENST00000251959;ENST00000457426;ENST00000417849;ENST00000432688	T;T;T	0.44482	0.92;0.92;0.92	4.89	-0.634	0.11516	4.89	-0.634	0.11516	.	0.932149	0.08653	U	0.913725	T	0.48241	0.1489	L	0.43923	1.385	0.35091	D	0.76433	D;D	0.89917	1.0;0.999	D;P	0.64595	0.927;0.724	T	0.57837	-0.7742	10	0.87932	D	0	.	4.2227	0.10565	0.4874:0.2579:0.0:0.2547	.	81;134	B4DN84;Q9BRC7	.;PLCD4_HUMAN	C	134	ENSP00000388631:R134C;ENSP00000396942:R134C;ENSP00000396185:R134C	ENSP00000251959:R134C	R	+	1	0	0	PLCD4	219191764	219191764	0.985000	0.35326	0.516000	0.27786	0.976000	0.68499	2.383000	0.44354	0.014000	0.14944	0.655000	0.94253	CGC		0.577	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336876.1		20.252831	-2	-2	13	13			6	20.474184	20.474184	3	0.666667	0	0	0	1	0	6	3	0.666667
CFAP61	26074	broad.mit.edu	37	20	20177279	20177279	+	Silent	SNP	C	C	T	rs78795550		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr20:20177279C>T	ENST00000245957.5	+	16	1732	c.1656C>T	c.(1654-1656)cgC>cgT	p.R552R	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		552										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		ACCACCAGCGCGAAGAACACG	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		20321	0.001		0.0	False		,,,				2504	0.0					ENST00000245957.5											0			NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77						c.(1654-1656)cgC>cgT	chromosome 20 open reading frame 26	C		1,4405	2.1+/-5.4	0,1,2202	153.0	125.0	135.0		1656	-10.0	0.2	20	dbSNP_132	135	0,8600		0,0,4300	no	coding-synonymous	C20orf26	NM_015585.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		552/1238	20177279	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	26074						g.chr20:20177279C>T																																																	ENST00000245957.5:c.1656C>T	20.37:g.20177279C>T			C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR	p.R552R	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	16	1732	+			552		A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Silent	SNP	ENST00000245957.5	37	c.1656C>T	CCDS33447.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	9.621	1.133941	0.21123	2.27E-4	0.0	ENSG00000089101	ENST00000431753	.	.	.	5.83	-10.0	0.00425	5.83	-10.0	0.00425	.	.	.	.	.	T	0.32224	0.0822	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41378	-0.9512	4	.	.	.	.	1.8644	0.03195	0.2904:0.0963:0.3508:0.2625	.	.	.	.	V	92	.	.	A	+	2	0	0	C20orf26	20125279	20125279	0.000000	0.05858	0.178000	0.23040	0.981000	0.71138	-2.349000	0.01093	-1.563000	0.01680	-0.150000	0.13652	GCG		0.463	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3		37.923168	-7	-7	75	75			14	39.222537	39.222537	30	0.318182	0	0	0	1	0	14	30	0.318182
MYO1F	4542	broad.mit.edu	37	19	8601203	8601203	+	Missense_Mutation	SNP	G	G	A	rs201138222		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:8601203G>A	ENST00000338257.8	-	19	2243	c.1976C>T	c.(1975-1977)gCg>gTg	p.A659V		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	659	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CATGTTGACCGCCCGAAGCAG	0.637													G|||	1	0.000199681	0.0008	0.0	5008	,	,		13502	0.0		0.0	False		,,,				2504	0.0					ENST00000338257.8											0			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						c.(1975-1977)gCg>gTg	myosin IF						67.0	68.0	68.0					19																	8601203		2030	4210	6240	SO:0001583	missense	4542				unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8601203G>A	X98411	X98411	CCDS42494.1	CCDS42494.1	19p13.3-p13.2	2011-09-27			2011-09-27			ENSG00000142347	ENSG00000142347	ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	"""Myosins / Myosin superfamily : Class I"""	7600	7600	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601480	601480						9119401, 8884266	9119401, 8884266	Standard	Standard	NM_012335	NM_012335		Approved		uc002mkg.3	uc002mkg.3	O00160	O00160	OTTHUMG00000156005	OTTHUMG00000156005	ENST00000338257.8:c.1976C>T	19.37:g.8601203G>A	ENSP00000344871:p.Ala659Val			p.A659V	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN			19	2243	-			659	Myosin head-like.	Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	c.1976C>T	CCDS42494.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	22.8	4.333385	0.81801	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	D	0.87966	-2.32	4.51	4.51	0.55191	4.51	4.51	0.55191	Myosin head, motor domain (2);	0.067309	0.64402	D	0.000010	D	0.84615	0.5511	M	0.65975	2.015	0.41335	D	0.987269	P	0.40250	0.709	B	0.33454	0.164	D	0.86832	0.2011	10	0.51188	T	0.08	.	16.2491	0.82473	0.0:0.0:1.0:0.0	.	659	O00160	MYO1F_HUMAN	V	704;659	ENSP00000344871:A659V	ENSP00000304899:A704V	A	-	2	0	0	MYO1F	8507203	8507203	1.000000	0.71417	0.624000	0.29186	0.904000	0.53231	9.781000	0.99029	2.076000	0.62316	0.454000	0.30748	GCG		0.637	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2		8.522471	-2	-2	53	53			6	12.997189	12.997189	33	0.153846	0	0	0	1	0	6	33	0.153846
RAD23B	5887	broad.mit.edu	37	9	110084367	110084367	+	Missense_Mutation	SNP	C	C	T	rs372514872		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:110084367C>T	ENST00000358015.3	+	7	1136	c.785C>T	c.(784-786)aCg>aTg	p.T262M	RAD23B_ENST00000416373.2_Missense_Mutation_p.T190M	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	262	Poly-Thr.				DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|XPC complex (GO:0071942)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GCAGCAACTACGACAGCAACA	0.488								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000358015.3											0			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(784-786)aCg>aTg	RAD23 homolog B (S. cerevisiae)	C	MET/THR	0,4406		0,0,2203	63.0	67.0	65.0		785	5.2	0.7	9		65	1,8599	1.2+/-3.3	0,1,4299	no	missense	RAD23B	NM_002874.4	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	262/410	110084367	1,13005	2203	4300	6503	SO:0001583	missense	5887			nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding	g.chr9:110084367C>T			CCDS6769.1, CCDS59138.1	CCDS6769.1, CCDS59138.1	9q31.2	2008-07-21	2001-11-28		2008-07-21	2001-11-28		ENSG00000119318	ENSG00000119318	ENSG00000119318	ENSG00000119318				9813	9813	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""XP-C repair complementing protein"", ""XP-C repair complementing complex 58 kDa"""	"""XP-C repair complementing protein"", ""XP-C repair complementing complex 58 kDa"""	600062	600062	"""RAD23 (S. cerevisiae) homolog B"""		"""RAD23 (S. cerevisiae) homolog B"""			7851894, 8168482	7851894, 8168482	Standard	Standard	NM_002874	NM_002874		Approved	HHR23B, P58, HR23B	uc004bde.3	uc004bde.3	P54727	P54727	OTTHUMG00000020446	OTTHUMG00000020446	ENST00000358015.3:c.785C>T	9.37:g.110084367C>T	ENSP00000350708:p.Thr262Met		RAD23B_ENST00000416373.2_Missense_Mutation_p.T190M	p.T262M	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN			7	1136	+			262	Poly-Thr.	B3KWK8|G5E9P0|Q7Z5K8|Q8WUB0	Missense_Mutation	SNP	ENST00000358015.3	37	c.785C>T	CCDS6769.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.770683	0.69992	0.0	1.16E-4	ENSG00000119318	ENST00000358015;ENST00000416373	T;T	0.18657	2.21;2.2	5.19	5.19	0.71726	5.19	5.19	0.71726	.	0.210963	0.47852	D	0.000217	T	0.34250	0.0891	L	0.27053	0.805	0.50171	D	0.999857	D;P;D	0.89917	1.0;0.908;0.995	D;B;P	0.75020	0.985;0.394;0.661	T	0.04281	-1.0963	10	0.41790	T	0.15	-17.36	17.8341	0.88691	0.0:1.0:0.0:0.0	.	241;262;262	B7Z4W4;B4DEA3;P54727	.;.;RD23B_HUMAN	M	262;190	ENSP00000350708:T262M;ENSP00000405623:T190M	ENSP00000350708:T262M	T	+	2	0	0	RAD23B	109124188	109124188	0.882000	0.30256	0.747000	0.31113	0.714000	0.41099	3.929000	0.56514	2.579000	0.87056	0.555000	0.69702	ACG		0.488	RAD23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053548.1		7.882316	19	19	63	63	NM_002874		7	16.068228	16.068228	51	0.120690	0	0	0	1	0	7	51	0.12069
KAT2A	2648	broad.mit.edu	37	17	40271407	40271407	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:40271407C>T	ENST00000225916.5	-	6	982	c.929G>A	c.(928-930)cGc>cAc	p.R310H		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	310					cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|histone H3-K14 acetylation (GO:0044154)|in utero embryonic development (GO:0001701)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|positive regulation of gluconeogenesis (GO:0045722)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somitogenesis (GO:0001756)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|extracellular space (GO:0005615)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	chromatin binding (GO:0003682)|H3 histone acetyltransferase activity (GO:0010484)|histone acetyltransferase activity (GO:0004402)|histone acetyltransferase activity (H4-K12 specific) (GO:0043997)|histone deacetylase binding (GO:0042826)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GGTTTCGTAGCGGGGGAGGCT	0.587																																						ENST00000225916.5											0			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(928-930)cGc>cAc	K(lysine) acetyltransferase 2A						100.0	97.0	98.0					17																	40271407		2203	4300	6503	SO:0001583	missense	2648			chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity	g.chr17:40271407C>T	AF029777	AF029777	CCDS11417.1	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773	ENSG00000108773	ENSG00000108773		"""Chromatin-modifying enzymes / K-acetyltransferases"""	"""Chromatin-modifying enzymes / K-acetyltransferases"""	4201	4201	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602301	602301	"""GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"""	GCN5L2	"""GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"""	GCN5L2		8552087	8552087	Standard	Standard	NM_021078	NM_021078		Approved	GCN5, PCAF-b	uc002hyx.2	uc002hyx.2	Q92830	Q92830	OTTHUMG00000133504	OTTHUMG00000133504	ENST00000225916.5:c.929G>A	17.37:g.40271407C>T	ENSP00000225916:p.Arg310His			p.R310H	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN			6	982	-			310		Q8N1A2|Q9UCW1	Missense_Mutation	SNP	ENST00000225916.5	37	c.929G>A	CCDS11417.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.173070	0.38413	.	.	ENSG00000108773	ENST00000225916	T	0.05199	3.48	4.69	3.71	0.42584	4.69	3.71	0.42584	PCAF, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.05181	0.0138	N	0.20766	0.605	0.58432	D	0.999999	B	0.24675	0.109	B	0.27076	0.076	T	0.42430	-0.9452	10	0.17832	T	0.49	-18.4484	14.3531	0.66716	0.1492:0.8508:0.0:0.0	.	310	Q92830	KAT2A_HUMAN	H	310	ENSP00000225916:R310H	ENSP00000225916:R310H	R	-	2	0	0	KAT2A	37524933	37524933	1.000000	0.71417	0.824000	0.32777	0.855000	0.48748	7.651000	0.83577	1.198000	0.43158	0.555000	0.69702	CGC		0.587	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257458.1		86.866145	-20	-20	106	106	NM_021078		29	86.922493	86.922493	33	0.467742	0	0	0	1	0	29	33	0.467742
GJA1	2697	broad.mit.edu	37	6	121768726	121768726	+	Missense_Mutation	SNP	G	G	A	rs367628979		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:121768726G>A	ENST00000282561.3	+	2	890	c.733G>A	c.(733-735)Gac>Aac	p.D245N		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	245					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|atrial cardiac muscle cell action potential (GO:0086014)|atrial ventricular junction remodeling (GO:0003294)|blood vessel morphogenesis (GO:0048514)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|cell-cell signaling (GO:0007267)|cellular response to mechanical stimulus (GO:0071260)|chronic inflammatory response (GO:0002544)|embryonic digit morphogenesis (GO:0042733)|endothelium development (GO:0003158)|epithelial cell maturation (GO:0002070)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lens development in camera-type eye (GO:0002088)|membrane organization (GO:0061024)|milk ejection (GO:0060156)|muscle contraction (GO:0006936)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of gene expression (GO:0010629)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|osteoblast differentiation (GO:0001649)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of cell communication by chemical coupling (GO:0010652)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein oligomerization (GO:0051259)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of bone mineralization (GO:0030500)|regulation of bone remodeling (GO:0046850)|regulation of calcium ion transport (GO:0051924)|regulation of tight junction assembly (GO:2000810)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to fluid shear stress (GO:0034405)|response to peptide hormone (GO:0043434)|response to pH (GO:0009268)|signal transduction (GO:0007165)|skeletal muscle tissue regeneration (GO:0043403)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vascular transport (GO:0010232)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|contractile fiber (GO:0043292)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gap junction (GO:0005921)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial outer membrane (GO:0005741)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion transmembrane transporter activity (GO:0015075)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	GGGAAAGAGCGACCCTTACCA	0.507																																						ENST00000282561.3											0			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33						c.(733-735)Gac>Aac	gap junction protein, alpha 1, 43kDa	G	ASN/ASP	0,4406		0,0,2203	100.0	99.0	99.0		733	4.8	0.8	6		99	1,8599		0,1,4299	no	missense	GJA1	NM_000165.3	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	245/383	121768726	1,13005	2203	4300	6503	SO:0001583	missense	2697			cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity	g.chr6:121768726G>A	BC026329	BC026329	CCDS5123.1	CCDS5123.1	6q22.31	2013-05-10	2007-01-16		2013-05-10	2007-01-16		ENSG00000152661	ENSG00000152661	ENSG00000152661	ENSG00000152661		"""Ion channels / Gap junction proteins (connexins)"""	"""Ion channels / Gap junction proteins (connexins)"""	4274	4274	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""oculodentodigital dysplasia (syndactyly type III)"", ""connexin 43"""	"""oculodentodigital dysplasia (syndactyly type III)"", ""connexin 43"""	121014	121014	"""gap junction protein, alpha-like"", ""gap junction protein, alpha 1, 43kDa (connexin 43)"""	ODDD, GJAL	"""gap junction protein, alpha-like"", ""gap junction protein, alpha 1, 43kDa (connexin 43)"""	ODDD, GJAL		10331943, 1646158	10331943, 1646158	Standard	Standard	NM_000165	NM_000165		Approved	CX43, ODD, ODOD, SDTY3	uc003pyr.3	uc003pyr.3	P17302	P17302	OTTHUMG00000015479	OTTHUMG00000015479	ENST00000282561.3:c.733G>A	6.37:g.121768726G>A	ENSP00000282561:p.Asp245Asn			p.D245N	NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN		GBM - Glioblastoma multiforme(226;0.00252)	2	890	+			245		B2R5U9|Q6FHU1|Q9Y5I8	Missense_Mutation	SNP	ENST00000282561.3	37	c.733G>A	CCDS5123.1	.	.	.	.	.	.	.	.	.	.	G	3.137	-0.177081	0.06380	0.0	1.16E-4	ENSG00000152661	ENST00000440608;ENST00000282561	D	0.97066	-4.23	5.71	4.84	0.62591	5.71	4.84	0.62591	.	0.730394	0.11003	U	0.610297	D	0.89174	0.6640	N	0.12182	0.205	0.42019	D	0.990972	B	0.17268	0.021	B	0.08055	0.003	T	0.78645	-0.2123	10	0.28530	T	0.3	.	16.7504	0.85484	0.0:0.1293:0.8707:0.0	.	245	P17302	CXA1_HUMAN	N	229;245	ENSP00000282561:D245N	ENSP00000282561:D245N	D	+	1	0	0	GJA1	121810425	121810425	1.000000	0.71417	0.843000	0.33291	0.010000	0.07245	4.206000	0.58473	1.404000	0.46819	0.585000	0.79938	GAC		0.507	GJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042023.1		17.085984	8	8	65	65	NM_000165		8	20.027111	20.027111	30	0.210526	0	0	0	1	0	8	30	0.210526
ZNF629	23361	broad.mit.edu	37	16	30793309	30793309	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:30793309G>A	ENST00000262525.4	-	3	2547	c.2340C>T	c.(2338-2340)cgC>cgT	p.R780R	RP11-2C24.6_ENST00000575562.1_RNA	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	780					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)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			TGAGGGCCACGCGGTCGAGGA	0.647																																						ENST00000262525.4											0			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22						c.(2338-2340)cgC>cgT	zinc finger protein 629						80.0	95.0	90.0					16																	30793309		1915	4115	6030	SO:0001819	synonymous_variant	23361			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30793309G>A	AB002324	AB002324	CCDS45463.1	CCDS45463.1	16p11.2	2013-01-08			2013-01-08				ENSG00000102870		ENSG00000102870		"""Zinc fingers, C2H2-type"""	"""Zinc fingers, C2H2-type"""	29008	29008	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""zinc finger protein 65"""	ZNF65	"""zinc finger protein 65"""	ZNF65		9205841	9205841	Standard	Standard	NM_001080417	NM_001080417		Approved	KIAA0326	uc002dzs.1	uc002dzs.1	Q9UEG4	Q9UEG4			ENST00000262525.4:c.2340C>T	16.37:g.30793309G>A				p.R780R	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)		3	2547	-			780		Q15938	Silent	SNP	ENST00000262525.4	37	c.2340C>T	CCDS45463.1																																																																																									0.647	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1		52.397638	-28	-28	132	132	NM_015309		22	59.424876	59.424876	77	0.222222	0	0	0	1	0	22	77	0.222222
SF3B1	23451	broad.mit.edu	37	2	198267484	198267484	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:198267484G>A	ENST00000335508.6	-	14	1964	c.1873C>T	c.(1873-1875)Cgt>Tgt	p.R625C	SF3B1_ENST00000462613.1_5'Flank|SNORA4_ENST00000365564.1_RNA	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	625					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.R625C(5)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTTGTGTTACGGACATACTCA	0.433			Mis		myelodysplastic syndrome																																	ENST00000335508.6		Dom	yes		2	2q33.1	23451	"""splicing factor 3b, subunit 1, 155kDa"""		L	5	Substitution - Missense(5)	haematopoietic_and_lymphoid_tissue(5)	NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(1873-1875)Cgt>Tgt	splicing factor 3b, subunit 1, 155kDa						93.0	90.0	91.0					2																	198267484		2203	4300	6503	SO:0001583	missense	23451			nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198267484G>A	AF054284	AF054284	CCDS33356.1, CCDS46479.1	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524	ENSG00000115524	ENSG00000115524				10768	10768	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605590	605590	"""splicing factor 3b, subunit 1, 155kD"""		"""splicing factor 3b, subunit 1, 155kD"""			9585501	9585501	Standard	Standard	XM_005246428	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	uc002uue.3	O75533	O75533	OTTHUMG00000154447	OTTHUMG00000154447	ENST00000335508.6:c.1873C>T	2.37:g.198267484G>A	ENSP00000335321:p.Arg625Cys			p.R625C	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		14	1964	-					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.1873C>T	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873082	0.72180	.	.	ENSG00000115524	ENST00000335508	T	0.74421	-0.84	5.82	4.93	0.64822	5.82	4.93	0.64822	Armadillo-like helical (1);Armadillo-type fold (1);	0.053241	0.64402	D	0.000001	D	0.90331	0.6975	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.93337	0.6706	10	0.87932	D	0	.	15.2676	0.73675	0.0:0.0:0.7451:0.2549	.	625	O75533	SF3B1_HUMAN	C	625	ENSP00000335321:R625C	ENSP00000335321:R625C	R	-	1	0	0	SF3B1	197975729	197975729	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.689000	0.61723	1.444000	0.47605	-0.182000	0.12963	CGT		0.433	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2		59.951155	4	4	58	58			18	59.951155	59.951155	18	0.500000	0	0	0	1	0	18	18	0.5
PLEKHM3	389072	broad.mit.edu	37	2	208795810	208795810	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:208795810C>T	ENST00000427836.2	-	5	2215	c.1726G>A	c.(1726-1728)Gtg>Atg	p.V576M	PLEKHM3_ENST00000457206.1_Missense_Mutation_p.V576M|PLEKHM3_ENST00000389247.4_Missense_Mutation_p.V576M	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	576					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCTTCGTACACGTACTCCAGA	0.602																																						ENST00000457206.1											0			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1726-1728)Gtg>Atg	pleckstrin homology domain containing, family M, member 3						71.0	76.0	74.0					2																	208795810		2051	4204	6255	SO:0001583	missense	389072			intracellular signal transduction		metal ion binding	g.chr2:208795810C>T	AK057612	AK057612	CCDS42808.1	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385	ENSG00000178385	ENSG00000178385		"""Pleckstrin homology (PH) domain containing"""	"""Pleckstrin homology (PH) domain containing"""	34006	34006	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""differentiation associated protein"""	"""differentiation associated protein"""			"""pleckstrin homology domain containing, family M, member 1-like"""	PLEKHM1L	"""pleckstrin homology domain containing, family M, member 1-like"""	PLEKHM1L		19028694	19028694	Standard	Standard	NM_001080475	NM_001080475		Approved	DAPR	uc002vcl.2	uc002vcl.2	Q6ZWE6	Q6ZWE6	OTTHUMG00000154781	OTTHUMG00000154781	ENST00000427836.2:c.1726G>A	2.37:g.208795810C>T	ENSP00000417003:p.Val576Met		PLEKHM3_ENST00000427836.2_Missense_Mutation_p.V576M|PLEKHM3_ENST00000389247.4_Missense_Mutation_p.V576M	p.V576M			Q6ZWE6	PKHM3_HUMAN			5	2153	-			576		B9EKV2|Q8WW68	Missense_Mutation	SNP	ENST00000427836.2	37	c.1726G>A	CCDS42808.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.1|23.1	4.377049|4.377049	0.82682|0.82682	.|.	.|.	ENSG00000178385|ENSG00000178385	ENST00000447645|ENST00000427836;ENST00000389247;ENST00000457206	.|D;D;D	.|0.84516	.|-1.85;-1.86;-1.84	5.79|5.79	5.79|5.79	0.91817|0.91817	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.87438|0.87438	0.6177|0.6177	N|N	0.17474|0.17474	0.49|0.49	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.85130	.|0.966;0.997	D|D	0.87789|0.87789	0.2617|0.2617	5|10	.|0.45353	.|T	.|0.12	.|.	20.0292|20.0292	0.97532|0.97532	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|576;576	.|C9J119;Q6ZWE6	.|.;PKHM3_HUMAN	H|M	327|576	.|ENSP00000417003:V576M;ENSP00000373899:V576M;ENSP00000400150:V576M	.|ENSP00000373899:V576M	R|V	-|-	2|1	0|0	0|0	PLEKHM3|PLEKHM3	208504055|208504055	208504055|208504055	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.886000|0.886000	0.51366|0.51366	4.887000|4.887000	0.63156|0.63156	2.740000|2.740000	0.93945|0.93945	0.460000|0.460000	0.39030|0.39030	CGT|GTG		0.602	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337036.1		38.730865	-21	-21	78	78	NM_001080475		14	40.905231	40.905231	36	0.280000	0	0	0	1	0	14	36	0.28
TADA3	10474	broad.mit.edu	37	3	9831435	9831435	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr3:9831435G>A	ENST00000301964.2	-	3	978	c.420C>T	c.(418-420)atC>atT	p.I140I	TADA3_ENST00000492635.1_5'UTR|ARPC4_ENST00000397261.3_5'Flank|ARPC4_ENST00000498623.2_5'Flank|TADA3_ENST00000440161.1_Silent_p.I140I|ARPC4_ENST00000287613.7_5'Flank|TADA3_ENST00000343450.2_Silent_p.I140I	NM_006354.2	NP_006345.1	O75528	TADA3_HUMAN	transcriptional adaptor 3	140					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|intracellular estrogen receptor signaling pathway (GO:0030520)|mitotic nuclear division (GO:0007067)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of histone deacetylation (GO:0031063)|regulation of protein phosphorylation (GO:0001932)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of tubulin deacetylation (GO:0090043)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|intracellular (GO:0005622)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						GTGGCACGTCGATAGGGTCAT	0.572																																						ENST00000343450.2											0			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						c.(418-420)atC>atT	transcriptional adaptor 3						127.0	114.0	118.0					3																	9831435		2203	4300	6503	SO:0001819	synonymous_variant	10474			estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity	g.chr3:9831435G>A	AF069733	AF069733	CCDS2583.1, CCDS2584.1	CCDS2583.1, CCDS2584.1	3p25.3	2010-08-13	2009-10-02	2009-10-02	2010-08-13	2009-10-02	2009-10-02	ENSG00000171148	ENSG00000171148	ENSG00000171148	ENSG00000171148				19422	19422	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602945	602945	"""transcriptional adaptor 3 (NGG1 homolog, yeast)-like"""	TADA3L	"""transcriptional adaptor 3 (NGG1 homolog, yeast)-like"""	TADA3L		9674425, 11707411	9674425, 11707411	Standard	Standard	NM_006354	NM_006354		Approved	FLJ20221, FLJ21329, ADA3, hADA3, NGG1	uc010hcn.2	uc010hcn.2	O75528	O75528	OTTHUMG00000128440	OTTHUMG00000128440	ENST00000301964.2:c.420C>T	3.37:g.9831435G>A			TADA3_ENST00000301964.2_Silent_p.I140I|TADA3_ENST00000492635.1_5'UTR|TADA3_ENST00000440161.1_Silent_p.I140I	p.I140I	NM_133480.1	NP_597814.1	O75528	TADA3_HUMAN			3	967	-			140		Q6FI83|Q9UFS2	Silent	SNP	ENST00000301964.2	37	c.420C>T	CCDS2583.1																																																																																									0.572	TADA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250236.1		12.760809	-42	-42	123	123			8	19.416502	19.416502	47	0.145455	0	0	0	1	0	8	47	0.145455
AOX1	316	broad.mit.edu	37	2	201478596	201478596	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:201478596G>A	ENST00000374700.2	+	15	1759	c.1518G>A	c.(1516-1518)tcG>tcA	p.S506S	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	506					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TTTTGGGCTCGGCGCCAGGTG	0.473																																						ENST00000374700.2											0			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81						c.(1516-1518)tcG>tcA	aldehyde oxidase 1						94.0	90.0	92.0					2																	201478596		2203	4300	6503	SO:0001819	synonymous_variant	316			inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201478596G>A	AF017060	AF017060	CCDS33360.1	CCDS33360.1	2q33	2008-05-20			2008-05-20			ENSG00000138356	ENSG00000138356	ENSG00000138356	ENSG00000138356				553	553	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602841	602841						7570184	7570184	Standard	Standard	NM_001159	NM_001159		Approved	AO, AOH1	uc002uvx.3	uc002uvx.3	Q06278	Q06278	OTTHUMG00000154536	OTTHUMG00000154536	ENST00000374700.2:c.1518G>A	2.37:g.201478596G>A			AOX1_ENST00000485106.1_3'UTR	p.S506S	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN			15	1759	+			506		O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Silent	SNP	ENST00000374700.2	37	c.1518G>A	CCDS33360.1																																																																																									0.473	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1		-1.911030	6	6	57	57	NM_001159		3	6.846842	6.846842	42	0.066667	0	0	0	1	0	3	42	0.066667
KL	9365	broad.mit.edu	37	13	33635718	33635718	+	Silent	SNP	C	C	T	rs147748913		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr13:33635718C>T	ENST00000380099.3	+	4	2510	c.2502C>T	c.(2500-2502)acC>acT	p.T834T	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	834	Glycosyl hydrolase-1 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		AAGAAATGACCGACATCACGT	0.473																																						ENST00000380099.3											0			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41						c.(2500-2502)acC>acT	klotho	C		0,4406		0,0,2203	90.0	89.0	90.0		2502	-12.1	0.0	13	dbSNP_134	90	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	KL	NM_004795.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		834/1013	33635718	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9365			aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33635718C>T	AB005142	AB005142	CCDS9347.1	CCDS9347.1	13q12	2008-02-05			2008-02-05			ENSG00000133116	ENSG00000133116	ENSG00000133116	ENSG00000133116				6344	6344	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604824	604824						9464267	9464267	Standard	Standard	NM_004795	NM_004795		Approved		uc001uus.3	uc001uus.3	Q9UEF7	Q9UEF7	OTTHUMG00000017408	OTTHUMG00000017408	ENST00000380099.3:c.2502C>T	13.37:g.33635718C>T			KL_ENST00000487852.1_3'UTR	p.T834T	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	4	2510	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	834	Glycosyl hydrolase-1 2.	Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Silent	SNP	ENST00000380099.3	37	c.2502C>T	CCDS9347.1																																																																																									0.473	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1		-2.413262	-9	-9	72	72			3	7.159583	7.159583	45	0.062500	0	0	0	1	0	3	45	0.0625
ABHD8	79575	broad.mit.edu	37	19	17412110	17412110	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:17412110C>T	ENST00000247706.3	-	2	555	c.316G>A	c.(316-318)Ggg>Agg	p.G106R	MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000594999.1_5'Flank	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	106							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						CCATTCTGCCCGTGTAGGAGG	0.721																																					Ovarian(156;1368 2543 15275 41187)	ENST00000247706.3											0			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						c.(316-318)Ggg>Agg	abhydrolase domain containing 8						21.0	23.0	22.0					19																	17412110		1985	3920	5905	SO:0001583	missense	79575					hydrolase activity	g.chr19:17412110C>T	AK021805	AK021805	CCDS12355.1	CCDS12355.1	19p13.12	2010-12-09			2010-12-09			ENSG00000127220	ENSG00000127220	ENSG00000127220	ENSG00000127220		"""Abhydrolase domain containing"""	"""Abhydrolase domain containing"""	23759	23759	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12477932	12477932	Standard	Standard	NM_024527	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	uc002ngb.4	Q96I13	Q96I13			ENST00000247706.3:c.316G>A	19.37:g.17412110C>T	ENSP00000247706:p.Gly106Arg		MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	p.G106R	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN			2	555	-			106		Q9HAE9	Missense_Mutation	SNP	ENST00000247706.3	37	c.316G>A	CCDS12355.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.829729	0.32329	.	.	ENSG00000127220	ENST00000247706;ENST00000544788	T	0.30981	1.51	5.24	4.2	0.49525	5.24	4.2	0.49525	.	0.175578	0.50627	D	0.000119	T	0.16428	0.0395	N	0.14661	0.345	0.36626	D	0.876051	P	0.37708	0.606	B	0.32289	0.143	T	0.16364	-1.0405	10	0.45353	T	0.12	-14.7149	10.6748	0.45778	0.387:0.613:0.0:0.0	.	106	Q96I13	ABHD8_HUMAN	R	106;52	ENSP00000247706:G106R	ENSP00000247706:G106R	G	-	1	0	0	ABHD8	17273110	17273110	0.530000	0.26330	0.281000	0.24762	0.875000	0.50365	1.025000	0.30090	1.151000	0.42436	0.491000	0.48974	GGG		0.721	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1		52.871376	10	10	81	81	NM_024527		17	52.962895	52.962895	21	0.447368	0	0	0	1	0	17	21	0.447368
GOLT1A	127845	broad.mit.edu	37	1	204170925	204170925	+	Silent	SNP	C	C	T	rs541877298		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:204170925C>T	ENST00000308302.3	-	3	317	c.132G>A	c.(130-132)acG>acA	p.T44T	GOLT1A_ENST00000475517.1_5'Flank	NM_198447.1	NP_940849.1			golgi transport 1A									p.T44T(1)		kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			GGGACAGGCCCGTCAGGAACA	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		18515	0.0		0.0	False		,,,				2504	0.001					ENST00000308302.3											1	Substitution - coding silent(1)	lung(1)	kidney(1)|lung(2)|urinary_tract(1)	4						c.(130-132)acG>acA	golgi transport 1A						93.0	99.0	97.0					1																	204170925		2203	4300	6503	SO:0001819	synonymous_variant	127845			protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane		g.chr1:204170925C>T	BC058832	BC058832	CCDS1443.1	CCDS1443.1	1q32.1	2010-06-24	2010-06-24		2010-06-24	2010-06-24		ENSG00000174567	ENSG00000174567	ENSG00000174567	ENSG00000174567				24766	24766	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""golgi transport 1 homolog A (S. cerevisiae)"""		"""golgi transport 1 homolog A (S. cerevisiae)"""			12477932	12477932	Standard	Standard	NM_198447	NM_198447		Approved	FLJ42654, CGI-141, YMR292W, GOT1, MGC62027	uc001has.1	uc001has.1	Q6ZVE7	Q6ZVE7	OTTHUMG00000036056	OTTHUMG00000036056	ENST00000308302.3:c.132G>A	1.37:g.204170925C>T				p.T44T	NM_198447.1	NP_940849.1	Q6ZVE7	GOT1A_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)		3	317	-	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		44			Silent	SNP	ENST00000308302.3	37	c.132G>A	CCDS1443.1																																																																																									0.602	GOLT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087887.1		-1.407282	8	8	75	75	NM_198447		3	6.54141	6.541410	39	0.071429	0	0	0	1	0	3	39	0.071429
TNS3	64759	broad.mit.edu	37	7	47408605	47408605	+	Silent	SNP	G	G	A	rs375420968		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:47408605G>A	ENST00000398879.1	-	17	2004	c.1638C>T	c.(1636-1638)gaC>gaT	p.D546D	TNS3_ENST00000311160.9_Silent_p.D546D|TNS3_ENST00000355730.3_Silent_p.D306D			Q68CZ2	TENS3_HUMAN	tensin 3	546					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CATAGGGGCCGTCCATGCCAA	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		18250	0.0		0.001	False		,,,				2504	0.0					ENST00000398879.1											0			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						c.(1636-1638)gaC>gaT	tensin 3	G		1,4075		0,1,2037	42.0	46.0	44.0		1638	-4.3	0.0	7		44	1,8381		0,1,4190	no	coding-synonymous	TNS3	NM_022748.11		0,2,6227	AA,AG,GG		0.0119,0.0245,0.0161		546/1446	47408605	2,12456	2038	4191	6229	SO:0001819	synonymous_variant	64759				focal adhesion	protein binding	g.chr7:47408605G>A	AF378756	AF378756	CCDS5506.2	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	"""SH2 domain containing"""	21616	21616	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	"""tumor endothelial marker 6"""	606825	606825	"""tensin-like SH2 domain-containing 1"""	TENS1	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	11559528	Standard	Standard	NM_022748	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	uc003tnw.3	Q68CZ2	Q68CZ2	OTTHUMG00000074075	OTTHUMG00000074075	ENST00000398879.1:c.1638C>T	7.37:g.47408605G>A			TNS3_ENST00000311160.9_Silent_p.D546D|TNS3_ENST00000355730.3_Silent_p.D306D	p.D546D			Q68CZ2	TENS3_HUMAN			17	2004	-			546		B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Silent	SNP	ENST00000398879.1	37	c.1638C>T	CCDS5506.2																																																																																									0.617	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1		31.981881	-6	-6	68	68	NM_022748		12	33.869427	33.869427	31	0.279070	0	0	0	1	0	12	31	0.27907
ZNF425	155054	broad.mit.edu	37	7	148802334	148802334	+	Missense_Mutation	SNP	C	C	T	rs147910083	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:148802334C>T	ENST00000378061.2	-	4	761	c.629G>A	c.(628-630)cGg>cAg	p.R210Q		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	210					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GGAGTGGCTCCGTTTGTGCTT	0.522													C|||	2	0.000399361	0.0	0.0	5008	,	,		18300	0.0		0.002	False		,,,				2504	0.0					ENST00000378061.2											0			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(628-630)cGg>cAg	zinc finger protein 425	C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	67.0	70.0	69.0		629	1.0	0.0	7	dbSNP_134	69	0,8600		0,0,4300	yes	missense	ZNF425	NM_001001661.2	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	210/753	148802334	1,13005	2203	4300	6503	SO:0001583	missense	155054			negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr7:148802334C>T	AK056498	AK056498	CCDS34773.1	CCDS34773.1	7q36.1	2013-01-08			2013-01-08			ENSG00000204947	ENSG00000204947	ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	"""Zinc fingers, C2H2-type"", ""-"""	20690	20690	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001001661	NM_001001661		Approved		uc003wfj.3	uc003wfj.3	Q6IV72	Q6IV72	OTTHUMG00000158971	OTTHUMG00000158971	ENST00000378061.2:c.629G>A	7.37:g.148802334C>T	ENSP00000367300:p.Arg210Gln			p.R210Q	NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	761	-	Melanoma(164;0.15)		210		B3KPM1|Q08AG3	Missense_Mutation	SNP	ENST00000378061.2	37	c.629G>A	CCDS34773.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	13.88	2.370085	0.42003	2.27E-4	0.0	ENSG00000204947	ENST00000378061	T	0.07444	3.19	2.89	0.995	0.19838	2.89	0.995	0.19838	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11793	0.0287	M	0.62266	1.93	0.24276	N	0.99523	D	0.58970	0.984	P	0.46419	0.516	T	0.16748	-1.0392	9	0.59425	D	0.04	.	6.6514	0.22965	0.0:0.7418:0.0:0.2582	.	210	Q6IV72	ZN425_HUMAN	Q	210	ENSP00000367300:R210Q	ENSP00000367300:R210Q	R	-	2	0	0	ZNF425	148433267	148433267	0.000000	0.05858	0.012000	0.15200	0.662000	0.39071	0.435000	0.21510	0.115000	0.18071	-0.136000	0.14681	CGG		0.522	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1		48.454381	5	5	80	80	XM_088140		17	50.527325	50.527325	40	0.298246	0	0	0	1	0	17	40	0.298246
MTMR14	64419	broad.mit.edu	37	3	9743591	9743591	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr3:9743591C>T	ENST00000296003.4	+	19	2009	c.1887C>T	c.(1885-1887)atC>atT	p.I629I	MTMR14_ENST00000351233.5_Silent_p.I517I|CPNE9_ENST00000383832.3_5'Flank|MTMR14_ENST00000353332.5_Silent_p.I577I|CPNE9_ENST00000383831.3_5'Flank|MTMR14_ENST00000420925.1_Silent_p.I271I	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	629					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					CCGGTGCCATCGGGGGCCTGC	0.612																																						ENST00000296003.4											0			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21						c.(1885-1887)atC>atT	myotubularin related protein 14						66.0	74.0	72.0					3																	9743591		1981	4165	6146	SO:0001819	synonymous_variant	64419				perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chr3:9743591C>T	BC001674	BC001674	CCDS43043.1, CCDS43044.1, CCDS43045.1	CCDS43043.1, CCDS43044.1, CCDS43045.1	3p26	2011-06-09	2006-12-18	2006-12-18	2011-06-09	2006-12-18	2006-12-18	ENSG00000163719	ENSG00000163719	ENSG00000163719	ENSG00000163719		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	26190	26190	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""egg-derived tyrosine phosphatase homolog (Drosophila)"""	"""egg-derived tyrosine phosphatase homolog (Drosophila)"""	611089	611089	"""chromosome 3 open reading frame 29"""	C3orf29	"""chromosome 3 open reading frame 29"""	C3orf29		15186772	15186772	Standard	Standard	NM_022485	NM_022485		Approved	FLJ22405, FLJ90311, hJumpy, hEDTP	uc003brz.3	uc003brz.3	Q8NCE2	Q8NCE2	OTTHUMG00000155111	OTTHUMG00000155111	ENST00000296003.4:c.1887C>T	3.37:g.9743591C>T			MTMR14_ENST00000353332.5_Silent_p.I577I|MTMR14_ENST00000420925.1_Silent_p.I271I|MTMR14_ENST00000351233.5_Silent_p.I517I	p.I629I	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN			19	2009	+	Medulloblastoma(99;0.227)		629		Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0	Silent	SNP	ENST00000296003.4	37	c.1887C>T	CCDS43043.1																																																																																									0.612	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338435.1		73.337829	1	1	86	86	NM_022485		21	75.447593	75.447593	1	0.954545	0	0	0	1	0	21	1	0.954545
KIAA1211L	343990	broad.mit.edu	37	2	99449341	99449341	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:99449341C>T	ENST00000397899.2	-	4	690	c.359G>A	c.(358-360)cGg>cAg	p.R120Q	KIAA1211L_ENST00000462314.1_Intron	NM_207362.2	NP_997245.2	Q6NV74	K121L_HUMAN	KIAA1211-like	120																	AGCTTTAATCCGATCACACAC	0.463																																						ENST00000397899.2											0										c.(358-360)cGg>cAg	KIAA1211-like						232.0	241.0	238.0					2																	99449341		1907	4139	6046	SO:0001583	missense	343990						g.chr2:99449341C>T	BC068277	BC068277	CCDS42720.1	CCDS42720.1	2q11.2	2012-08-03	2012-08-03	2012-08-03	2012-08-03	2012-08-03	2012-08-03	ENSG00000196872	ENSG00000196872	ENSG00000196872	ENSG00000196872				33454	33454	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""chromosome 2 open reading frame 55"""	C2orf55	"""chromosome 2 open reading frame 55"""	C2orf55				Standard	Standard	NM_207362	NM_207362		Approved	MGC42367	uc002szf.1	uc002szf.1	Q6NV74	Q6NV74	OTTHUMG00000153171	OTTHUMG00000153171	ENST00000397899.2:c.359G>A	2.37:g.99449341C>T	ENSP00000380996:p.Arg120Gln		KIAA1211L_ENST00000462314.1_Intron	p.R120Q	NM_207362.2	NP_997245.2					4	690	-						Missense_Mutation	SNP	ENST00000397899.2	37	c.359G>A	CCDS42720.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.901746	0.92035	.	.	ENSG00000196872	ENST00000397899;ENST00000423771;ENST00000428096;ENST00000415261	T	0.52754	0.65	4.96	4.96	0.65561	4.96	4.96	0.65561	.	0.190957	0.27031	N	0.021265	T	0.67915	0.2944	M	0.65498	2.005	0.32497	N	0.539363	D	0.89917	1.0	D	0.91635	0.999	T	0.75379	-0.3338	10	0.87932	D	0	-13.8568	17.3797	0.87401	0.0:1.0:0.0:0.0	.	120	Q6NV74	CB055_HUMAN	Q	120;148;134;134	ENSP00000380996:R120Q	ENSP00000380996:R120Q	R	-	2	0	0	C2orf55	98815773	98815773	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.508000	0.67006	2.556000	0.86216	0.655000	0.94253	CGG		0.463	KIAA1211L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329933.1		-43.610548	-48	-48	279	279	NM_207362		4	6.554116	6.554116	191	0.020513	0	0	0	1	0	4	191	0.020513
ZNF764	92595	broad.mit.edu	37	16	30566853	30566853	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:30566853C>T	ENST00000252797.2	-	3	969	c.889G>A	c.(889-891)Gcc>Acc	p.A297T	ZNF764_ENST00000395091.2_Missense_Mutation_p.A296T|AC002310.13_ENST00000568114.1_Intron	NM_001172679.1|NM_033410.3	NP_001166150.1|NP_219363.2	Q96H86	ZN764_HUMAN	zinc finger protein 764	297					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						GAGGGGTAGGCGAAGGCGCGG	0.731																																						ENST00000395091.2											0			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						c.(886-888)Gcc>Acc	zinc finger protein 764																																			SO:0001583	missense	92595			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30566853C>T	BC008821	BC008821	CCDS10683.1, CCDS54001.1	CCDS10683.1, CCDS54001.1	16p11.2	2013-01-08			2013-01-08			ENSG00000169951	ENSG00000169951	ENSG00000169951	ENSG00000169951		"""Zinc fingers, C2H2-type"", ""-"""	"""Zinc fingers, C2H2-type"", ""-"""	28200	28200	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12477932	12477932	Standard	Standard	NM_033410	NM_033410		Approved	MGC13138	uc002dyq.3	uc002dyq.3	Q96H86	Q96H86	OTTHUMG00000132406	OTTHUMG00000132406	ENST00000252797.2:c.889G>A	16.37:g.30566853C>T	ENSP00000252797:p.Ala297Thr		AC002310.13_ENST00000568114.1_Intron|ZNF764_ENST00000252797.2_Missense_Mutation_p.A297T	p.A296T			Q96H86	ZN764_HUMAN			3	1201	-			297		A8MZF4|B3KSN2|H9KV99|Q9BWS1	Missense_Mutation	SNP	ENST00000252797.2	37	c.886G>A	CCDS10683.1	.	.	.	.	.	.	.	.	.	.	C	11.46	1.645688	0.29246	.	.	ENSG00000169951	ENST00000252797;ENST00000395091	T;T	0.17691	2.26;2.26	5.19	5.19	0.71726	5.19	5.19	0.71726	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38720	N	0.001581	T	0.17662	0.0424	N	0.11870	0.19	0.23813	N	0.996776	D;D	0.89917	1.0;0.962	D;P	0.91635	0.999;0.613	T	0.29882	-0.9997	10	0.12430	T	0.62	-19.7122	6.6707	0.23066	0.1786:0.7339:0.0:0.0875	.	296;297	B3KSN2;Q96H86	.;ZN764_HUMAN	T	297;296	ENSP00000252797:A297T;ENSP00000378526:A296T	ENSP00000252797:A297T	A	-	1	0	0	ZNF764	30474354	30474354	0.000000	0.05858	0.993000	0.49108	0.042000	0.13812	-1.697000	0.01910	2.709000	0.92574	0.561000	0.74099	GCC		0.731	ZNF764-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255541.1		15.675857	-8	-8	16	16	NM_033410		5	15.700072	15.700072	4	0.555556	0	0	0	1	0	5	4	0.555556
ARHGEF11	9826	broad.mit.edu	37	1	156907251	156907251	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:156907251C>T	ENST00000361409.2	-	38	4852	c.4110G>A	c.(4108-4110)ccG>ccA	p.P1370P	ARHGEF11_ENST00000315174.8_Silent_p.P786P|MIR765_ENST00000390226.1_RNA|ARHGEF11_ENST00000368194.3_Silent_p.P1410P|ARHGEF11_ENST00000487682.1_5'UTR	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1370					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGCTTGAGTCCGGGGGTCCTG	0.592																																						ENST00000368194.3											0			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81						c.(4228-4230)ccG>ccA	Rho guanine nucleotide exchange factor (GEF) 11						70.0	66.0	67.0					1																	156907251		2203	4300	6503	SO:0001819	synonymous_variant	9826			actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156907251C>T	AB002378	AB002378	CCDS1162.1, CCDS1163.1	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			2011-11-16			ENSG00000132694	ENSG00000132694	ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	"""Rho guanine nucleotide exchange factors"""	14580	14580	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605708	605708						10526156, 9205841	10526156, 9205841	Standard	Standard	NM_014784	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	uc001fqn.3	O15085	O15085	OTTHUMG00000041292	OTTHUMG00000041292	ENST00000361409.2:c.4110G>A	1.37:g.156907251C>T			ARHGEF11_ENST00000315174.8_Silent_p.P786P|ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000361409.2_Silent_p.P1370P	p.P1410P	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN			39	5269	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		1370		D3DVD0|Q5VY40|Q6PFW2	Silent	SNP	ENST00000361409.2	37	c.4230G>A	CCDS1162.1																																																																																									0.592	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1		2.803857	-2	-2	73	73	NM_198236		3	7.343873	7.343873	26	0.103448	0	0	0	1	0	3	26	0.103448
TTN	7273	broad.mit.edu	37	2	179634804	179634804	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:179634804G>A	ENST00000591111.1	-	36	8848	c.8624C>T	c.(8623-8625)gCa>gTa	p.A2875V	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A2875V|TTN_ENST00000342992.6_Missense_Mutation_p.A2875V|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.A2875V|TTN_ENST00000460472.2_Missense_Mutation_p.A2829V|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A2829V|TTN_ENST00000359218.5_Missense_Mutation_p.A2829V			Q8WZ42	TITIN_HUMAN	titin	13203					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAACAGTTTTGCTTTGCATTC	0.458																																						ENST00000589042.1											0			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(8623-8625)gCa>gTa	titin						151.0	142.0	145.0					2																	179634804		2203	4300	6503	SO:0001583	missense	7273					ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179634804G>A	X90568	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	12403	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			188840	188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	2129545, 10051295	Standard	Standard	NM_003319	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	uc031rqd.1	Q8WZ42	Q8WZ42	OTTHUMG00000154448	OTTHUMG00000154448	ENST00000591111.1:c.8624C>T	2.37:g.179634804G>A	ENSP00000465570:p.Ala2875Val		TTN_ENST00000360870.5_Missense_Mutation_p.A2875V|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A2829V|TTN_ENST00000359218.5_Missense_Mutation_p.A2829V|TTN_ENST00000591111.1_Missense_Mutation_p.A2875V|TTN_ENST00000342992.6_Missense_Mutation_p.A2875V|TTN_ENST00000460472.2_Missense_Mutation_p.A2829V	p.A2875V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		36	8848	-			2613		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.8624C>T		.	.	.	.	.	.	.	.	.	.	G	15.74	2.922487	0.52653	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33	6.06	6.06	0.98353	6.06	6.06	0.98353	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.87220	0.6123	M	0.92268	3.29	0.46954	D	0.999265	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.998;0.998;0.998;0.998	D	0.88851	0.3319	9	0.87932	D	0	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	2829;2829;2829;2875;2875	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	V	2875;2829;2829;2829;2829;2875	ENSP00000343764:A2875V;ENSP00000434586:A2829V;ENSP00000340554:A2829V;ENSP00000352154:A2829V;ENSP00000354117:A2875V	ENSP00000340554:A2829V	A	-	2	0	0	TTN	179343049	179343049	1.000000	0.71417	0.972000	0.41901	0.768000	0.43524	9.476000	0.97823	2.882000	0.98803	0.655000	0.94253	GCA		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		100.735809	-4	-4	117	117	NM_133378		34	100.739161	100.739161	35	0.492754	0	0	0	1	0	34	35	0.492754
FOXM1	2305	broad.mit.edu	37	12	2973852	2973852	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:2973852C>T	ENST00000359843.3	-	7	1155	c.1087G>A	c.(1087-1089)Gca>Aca	p.A363T	FOXM1_ENST00000361953.3_Missense_Mutation_p.A348T|FOXM1_ENST00000537018.1_5'Flank|FOXM1_ENST00000342628.2_Missense_Mutation_p.A363T	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	363					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			TACTAACGTGCGCCCAGGGGG	0.552																																						ENST00000342628.2											0			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24						c.(1087-1089)Gca>Aca	forkhead box M1						142.0	125.0	131.0					12																	2973852		2203	4300	6503	SO:0001583	missense	2305			cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding	g.chr12:2973852C>T	Y12773	Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			2007-09-18			ENSG00000111206	ENSG00000111206	ENSG00000111206	ENSG00000111206		"""Forkhead boxes"""	"""Forkhead boxes"""	3818	3818	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 2"""	"""M-phase phosphoprotein 2"""	602341	602341		FKHL16		FKHL16		9032290, 9441747	9032290, 9441747	Standard	Standard	NM_202002	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	uc001qlf.3	Q08050	Q08050	OTTHUMG00000168118	OTTHUMG00000168118	ENST00000359843.3:c.1087G>A	12.37:g.2973852C>T	ENSP00000352901:p.Ala363Thr		FOXM1_ENST00000359843.3_Missense_Mutation_p.A363T|FOXM1_ENST00000361953.3_Missense_Mutation_p.A348T	p.A363T	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000622)		7	1200	-			363		O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Missense_Mutation	SNP	ENST00000359843.3	37	c.1087G>A	CCDS8515.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.63|13.63	2.294084|2.294084	0.40594|0.40594	.|.	.|.	ENSG00000111206|ENSG00000111206	ENST00000342628;ENST00000361953;ENST00000359843|ENST00000535350	D;D;D|.	0.93426|.	-3.14;-3.22;-3.15|.	4.73|4.73	2.9|2.9	0.33743|0.33743	4.73|4.73	2.9|2.9	0.33743|0.33743	.|.	0.421116|.	0.27393|.	N|.	0.019561|.	T|T	0.24431|0.24431	0.0592|0.0592	N|N	0.12182|0.12182	0.205|0.205	0.30685|0.30685	N|N	0.751927|0.751927	B;B;B;B;B|.	0.31077|.	0.056;0.099;0.093;0.099;0.307|.	B;B;B;B;B|.	0.27380|.	0.015;0.019;0.034;0.019;0.079|.	T|T	0.25257|0.25257	-1.0137|-1.0137	10|5	0.42905|.	T|.	0.14|.	.|.	8.0561|8.0561	0.30606|0.30606	0.0:0.8117:0.0:0.1883|0.0:0.8117:0.0:0.1883	.|.	347;363;348;363;363|.	A8K591;Q53Y49;Q08050-2;Q08050;Q08050-3|.	.;.;.;FOXM1_HUMAN;.|.	T|H	363;348;363|88	ENSP00000342307:A363T;ENSP00000354492:A348T;ENSP00000352901:A363T|.	ENSP00000342307:A363T|.	A|R	-|-	1|2	0|0	0|0	FOXM1|FOXM1	2844113|2844113	2844113|2844113	0.815000|0.815000	0.29118|0.29118	1.000000|1.000000	0.80357|0.80357	0.605000|0.605000	0.37080|0.37080	0.332000|0.332000	0.19751|0.19751	0.598000|0.598000	0.29829|0.29829	0.462000|0.462000	0.41574|0.41574	GCA|CGC		0.552	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398272.1		-7.862464	-3	-3	92	92	NM_021953		4	7.657626	7.657626	70	0.054054	0	0	0	1	0	4	70	0.054054
LLGL2	3993	broad.mit.edu	37	17	73569290	73569290	+	Missense_Mutation	SNP	C	C	T	rs370466207		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:73569290C>T	ENST00000392550.3	+	20	2773	c.2656C>T	c.(2656-2658)Cgc>Tgc	p.R886C	LLGL2_ENST00000577200.1_Missense_Mutation_p.R886C|LLGL2_ENST00000167462.5_Missense_Mutation_p.R886C	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	886					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			GCCCCAGGTGCGCTACAGCTG	0.652																																						ENST00000392550.3											0			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2656-2658)Cgc>Tgc	lethal giant larvae homolog 2 (Drosophila)	C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	60.0	53.0	55.0		2656,2656	4.6	1.0	17		55	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LLGL2	NM_001031803.1,NM_004524.2	180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	886/1021,886/1016	73569290	1,13005	2203	4300	6503	SO:0001583	missense	3993			cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	g.chr17:73569290C>T	X87342	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28		2013-01-10	2001-11-28			ENSG00000073350		ENSG00000073350		"""WD repeat domain containing"""	"""WD repeat domain containing"""	6629	6629	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""lethal giant larvae (Drosophila) homolog 2"""		"""lethal giant larvae (Drosophila) homolog 2"""					Standard	Standard	XR_243659	XR_243659		Approved	HGL	uc002joh.3	uc002joh.3	Q6P1M3	Q6P1M3			ENST00000392550.3:c.2656C>T	17.37:g.73569290C>T	ENSP00000376333:p.Arg886Cys		LLGL2_ENST00000577200.1_Missense_Mutation_p.R886C|LLGL2_ENST00000167462.5_Missense_Mutation_p.R886C	p.R886C	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)		20	2773	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		886		Q14521|Q9BR62	Missense_Mutation	SNP	ENST00000392550.3	37	c.2656C>T	CCDS32733.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.741877	0.49151	0.0	1.16E-4	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000545227	T;T	0.05199	3.48;3.59	4.63	4.63	0.57726	4.63	4.63	0.57726	.	0.172598	0.51477	D	0.000089	T	0.24122	0.0584	M	0.72894	2.215	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;P;D;D;P	0.67900	0.954;0.828;0.917;0.921;0.836	T	0.01042	-1.1471	10	0.72032	D	0.01	1.0738	17.7269	0.88367	0.0:1.0:0.0:0.0	.	513;875;875;886;886	B4DVR9;B3KX47;G3V1I9;Q6P1M3-2;Q6P1M3	.;.;.;.;L2GL2_HUMAN	C	886;886;875	ENSP00000167462:R886C;ENSP00000376333:R886C	ENSP00000167462:R886C	R	+	1	0	0	LLGL2	71080885	71080885	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.604000	0.82830	2.408000	0.81797	0.400000	0.26472	CGC		0.652	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1		27.336539	-11	-11	79	79	NM_004524		13	32.779405	32.779405	52	0.200000	0	0	0	1	0	13	52	0.2
RAC2	5880	broad.mit.edu	37	22	37628860	37628860	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr22:37628860G>A	ENST00000249071.6	-	3	327	c.206C>T	c.(205-207)cCg>cTg	p.P69L	RAC2_ENST00000405484.1_Missense_Mutation_p.P62L|RAC2_ENST00000406508.1_Missense_Mutation_p.P25L	NM_002872.3	NP_002863.1	P15153	RAC2_HUMAN	ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)	69					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell projection assembly (GO:0030031)|G-protein coupled receptor signaling pathway (GO:0007186)|lymphocyte aggregation (GO:0071593)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|regulation of cell-substrate adhesion (GO:0010810)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of neutrophil migration (GO:1902622)|regulation of respiratory burst (GO:0060263)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12					Dextromethorphan(DB00514)	ATAGGAGAGCGGCCGGAGACG	0.592																																						ENST00000249071.6											0			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(205-207)cCg>cTg	ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)						87.0	61.0	70.0					22																	37628860		2203	4300	6503	SO:0001583	missense	5880			axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr22:37628860G>A	M64595	M64595	CCDS13945.1	CCDS13945.1	22q13.1	2014-09-17			2014-09-17			ENSG00000128340	ENSG00000128340	ENSG00000128340	ENSG00000128340		"""Endogenous ligands"""	"""Endogenous ligands"""	9802	9802	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602049	602049						2674130	2674130	Standard	Standard	NM_002872	NM_002872		Approved	EN-7	uc003arc.3	uc003arc.3	P15153	P15153	OTTHUMG00000150540	OTTHUMG00000150540	ENST00000249071.6:c.206C>T	22.37:g.37628860G>A	ENSP00000249071:p.Pro69Leu		RAC2_ENST00000405484.1_Missense_Mutation_p.P62L|RAC2_ENST00000406508.1_Missense_Mutation_p.P25L	p.P69L	NM_002872.3	NP_002863.1	P15153	RAC2_HUMAN			3	327	-			69		Q9UDJ4	Missense_Mutation	SNP	ENST00000249071.6	37	c.206C>T	CCDS13945.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.624131	0.87560	.	.	ENSG00000128340	ENST00000249071;ENST00000406508;ENST00000405484;ENST00000441619	T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54	4.69	4.69	0.59074	4.69	4.69	0.59074	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.87884	0.6290	M	0.93106	3.38	0.80722	D	1	D	0.67145	0.996	D	0.79784	0.993	D	0.91254	0.5031	10	0.87932	D	0	.	17.9764	0.89129	0.0:0.0:1.0:0.0	.	69	P15153	RAC2_HUMAN	L	69;25;62;69	ENSP00000249071:P69L;ENSP00000385270:P25L;ENSP00000385590:P62L;ENSP00000403778:P69L	ENSP00000249071:P69L	P	-	2	0	0	RAC2	35958806	35958806	1.000000	0.71417	0.935000	0.37517	0.847000	0.48162	9.617000	0.98361	2.301000	0.77427	0.462000	0.41574	CCG		0.592	RAC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318812.1		42.078279	12	12	31	31			13	42.163705	42.163705	10	0.565217	0	0	0	1	0	13	10	0.565217
ALPL	249	broad.mit.edu	37	1	21903969	21903969	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:21903969C>T	ENST00000374840.3	+	12	1653	c.1403C>T	c.(1402-1404)gCg>gTg	p.A468V	ALPL_ENST00000539907.1_Missense_Mutation_p.A391V|ALPL_ENST00000540617.1_Missense_Mutation_p.A413V|ALPL_ENST00000374832.1_Missense_Mutation_p.A468V|ALPL_ENST00000374830.1_Missense_Mutation_p.A114V|ALPL_ENST00000374829.1_Missense_Mutation_p.A114V|ALPL_ENST00000425315.2_Missense_Mutation_p.A468V	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	468			A -> T (in HOPS). {ECO:0000269|PubMed:12815606}.		cellular response to organic cyclic compound (GO:0071407)|cementum mineralization (GO:0071529)|developmental process involved in reproduction (GO:0003006)|endochondral ossification (GO:0001958)|osteoblast differentiation (GO:0001649)|response to antibiotic (GO:0046677)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)	anchored component of membrane (GO:0031225)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)|Fospropofol(DB06716)	GGCCCCATGGCGCACCTGCTG	0.677																																						ENST00000374840.3											0			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(1402-1404)gCg>gTg	alkaline phosphatase, liver/bone/kidney						48.0	45.0	46.0					1																	21903969		2203	4297	6500	SO:0001583	missense	249			response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr1:21903969C>T	BC021289	BC021289	CCDS217.1, CCDS53274.1, CCDS53275.1	CCDS217.1, CCDS53274.1, CCDS53275.1	1p36.12	2008-02-05			2008-02-05			ENSG00000162551	ENSG00000162551	ENSG00000162551	ENSG00000162551	3.1.3.1			438	438	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			171760	171760		HOPS		HOPS		3532105, 3446011	3532105, 3446011	Standard	Standard	NM_001127501	NM_001127501		Approved	TNSALP	uc001bet.3	uc001bet.3	P05186	P05186	OTTHUMG00000002949	OTTHUMG00000002949	ENST00000374840.3:c.1403C>T	1.37:g.21903969C>T	ENSP00000363973:p.Ala468Val		ALPL_ENST00000425315.2_Missense_Mutation_p.A468V|ALPL_ENST00000540617.1_Missense_Mutation_p.A413V|ALPL_ENST00000374830.1_Missense_Mutation_p.A114V|ALPL_ENST00000539907.1_Missense_Mutation_p.A391V|ALPL_ENST00000374829.1_Missense_Mutation_p.A114V|ALPL_ENST00000374832.1_Missense_Mutation_p.A468V	p.A468V	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	12	1653	+		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	468		A1A4E7|B2RMP8|B7Z387|B7Z4Y6|O75090|Q2TAI7|Q59EJ7|Q5BKZ5|Q5VTG5|Q6NZI8|Q8WU32|Q9UBK0	Missense_Mutation	SNP	ENST00000374840.3	37	c.1403C>T	CCDS217.1	.	.	.	.	.	.	.	.	.	.	c	32	5.190715	0.94923	.	.	ENSG00000162551	ENST00000539907;ENST00000540617;ENST00000374840;ENST00000374832;ENST00000425315;ENST00000374830;ENST00000374829	D;D;D;D;D;D;D	0.96802	-4.13;-4.13;-4.13;-4.13;-4.13;-4.13;-4.13	4.91	4.91	0.64330	4.91	4.91	0.64330	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98868	0.9617	H	0.97852	4.09	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.992;0.999	D	0.99260	1.0890	10	0.87932	D	0	0.79	15.6427	0.77020	0.0:1.0:0.0:0.0	.	391;416;468	B7Z387;B7Z1D1;P05186	.;.;PPBT_HUMAN	V	391;413;468;468;468;114;114	ENSP00000437674:A391V;ENSP00000442672:A413V;ENSP00000363973:A468V;ENSP00000363965:A468V;ENSP00000394765:A468V;ENSP00000363963:A114V;ENSP00000363962:A114V	ENSP00000363962:A114V	A	+	2	0	0	ALPL	21776556	21776556	1.000000	0.71417	0.956000	0.39512	0.920000	0.55202	7.228000	0.78079	2.565000	0.86533	0.556000	0.70494	GCG		0.677	ALPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008202.1		0.766218	-16	-16	59	59	NM_000478		4	7.946457	7.946457	39	0.093023	0	0	0	1	0	4	39	0.093023
PCSK7	9159	broad.mit.edu	37	11	117089817	117089817	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:117089817C>T	ENST00000320934.3	-	11	2017	c.1387G>A	c.(1387-1389)Ggt>Agt	p.G463S	PCSK7_ENST00000540028.1_Missense_Mutation_p.G104S	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	463	Peptidase S8.				peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		AGGCCGAAACCGTGCTGGTGG	0.597			T	IGH@	MLCLS																																	ENST00000320934.3		Dom	yes		11	11q23.3	9159	proprotein convertase subtilisin/kexin type 7		L	0			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16						c.(1387-1389)Ggt>Agt	proprotein convertase subtilisin/kexin type 7						70.0	56.0	60.0					11																	117089817		2201	4296	6497	SO:0001583	missense	9159			peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity	g.chr11:117089817C>T	U40623	U40623	CCDS8382.1	CCDS8382.1	11q23-q24	2008-02-01			2008-02-01			ENSG00000160613	ENSG00000160613	ENSG00000160613	ENSG00000160613				8748	8748	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604872	604872						8615762, 9820811	8615762, 9820811	Standard	Standard	XM_006718938	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	uc001pqr.3	Q16549	Q16549	OTTHUMG00000165640	OTTHUMG00000165640	ENST00000320934.3:c.1387G>A	11.37:g.117089817C>T	ENSP00000325917:p.Gly463Ser		PCSK7_ENST00000540028.1_Missense_Mutation_p.G104S	p.G463S	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)	11	2017	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	463	Catalytic.	B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Missense_Mutation	SNP	ENST00000320934.3	37	c.1387G>A	CCDS8382.1	.	.	.	.	.	.	.	.	.	.	C	33	5.221747	0.95139	.	.	ENSG00000160613	ENST00000320934;ENST00000540028;ENST00000543900	D;D	0.97752	-4.52;-4.52	5.2	5.2	0.72013	5.2	5.2	0.72013	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.99248	0.9738	H	0.97707	4.06	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98847	1.0757	10	0.87932	D	0	-17.8281	17.3108	0.87210	0.0:1.0:0.0:0.0	.	463	Q16549	PCSK7_HUMAN	S	463;104;463	ENSP00000325917:G463S;ENSP00000441944:G104S	ENSP00000325917:G463S	G	-	1	0	0	PCSK7	116595027	116595027	1.000000	0.71417	0.473000	0.27253	0.667000	0.39255	7.208000	0.77907	2.442000	0.82660	0.591000	0.81541	GGT		0.597	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385529.2		8.086884	-4	-4	22	22	NM_004716		4	10.394433	10.394433	19	0.173913	0	0	0	1	0	4	19	0.173913
IGDCC3	9543	broad.mit.edu	37	15	65622132	65622132	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr15:65622132G>A	ENST00000327987.4	-	12	2180	c.1929C>T	c.(1927-1929)atC>atT	p.I643I	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	643					neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGTGGATGCCGATGACGATGC	0.637																																						ENST00000327987.4											0			breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1927-1929)atC>atT	immunoglobulin superfamily, DCC subclass, member 3						126.0	72.0	90.0					15																	65622132		2201	4299	6500	SO:0001819	synonymous_variant	9543						g.chr15:65622132G>A	AF063936	AF063936	CCDS10205.1	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	9700	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604184	604184	"""putative neuronal cell adhesion molecule"""	PUNC	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	9922388	Standard	Standard	NM_004884	NM_004884		Approved	HsT18880	uc002aos.2	uc002aos.2	Q8IVU1	Q8IVU1	OTTHUMG00000133137	OTTHUMG00000133137	ENST00000327987.4:c.1929C>T	15.37:g.65622132G>A				p.I643I	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN			12	2180	-			643		O95215	Silent	SNP	ENST00000327987.4	37	c.1929C>T	CCDS10205.1																																																																																									0.637	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1		28.472851	-19	-19	33	33	NM_004884		9	28.566046	28.566046	12	0.428571	0	0	0	1	0	9	12	0.428571
LPCAT1	79888	broad.mit.edu	37	5	1501684	1501684	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:1501684C>T	ENST00000283415.3	-	2	302	c.170G>A	c.(169-171)cGg>cAg	p.R57Q		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	57					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|negative regulation of phosphatidylcholine biosynthetic process (GO:2001246)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein catabolic process (GO:0045732)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|surfactant homeostasis (GO:0043129)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphocholine O-acyltransferase activity (GO:0047159)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|1-alkylglycerophosphocholine O-acyltransferase activity (GO:0047191)|calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		AACCAGGAGCCGGACCGGGAA	0.662																																						ENST00000283415.3											0			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(169-171)cGg>cAg	lysophosphatidylcholine acyltransferase 1						42.0	50.0	47.0					5																	1501684		2202	4300	6502	SO:0001583	missense	79888			phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding	g.chr5:1501684C>T	BC020166	BC020166	CCDS3864.1	CCDS3864.1	5p15.33	2013-01-10	2007-12-17	2007-12-17	2013-01-10	2007-12-17	2007-12-17	ENSG00000153395	ENSG00000153395	ENSG00000153395	ENSG00000153395		"""EF-hand domain containing"""	"""EF-hand domain containing"""	25718	25718	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610472	610472	"""acyltransferase like 2"""	AYTL2	"""acyltransferase like 2"""	AYTL2		8619474, 16704971	8619474, 16704971	Standard	Standard	NM_024830	NM_024830		Approved	FLJ12443	uc003jcm.3	uc003jcm.3	Q8NF37	Q8NF37	OTTHUMG00000131017	OTTHUMG00000131017	ENST00000283415.3:c.170G>A	5.37:g.1501684C>T	ENSP00000283415:p.Arg57Gln			p.R57Q	NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)	2	302	-			57		Q1HAQ1|Q7Z4G6|Q8N3U7|Q8WUL8|Q9GZW6	Missense_Mutation	SNP	ENST00000283415.3	37	c.170G>A	CCDS3864.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.426510	0.62733	.	.	ENSG00000153395	ENST00000283415	D	0.81499	-1.5	4.35	4.35	0.52113	4.35	4.35	0.52113	.	0.000000	0.85682	D	0.000000	D	0.90511	0.7027	M	0.86268	2.805	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.92555	0.6053	10	0.87932	D	0	-29.7716	16.8769	0.86054	0.0:1.0:0.0:0.0	.	57	Q8NF37	PCAT1_HUMAN	Q	57	ENSP00000283415:R57Q	ENSP00000283415:R57Q	R	-	2	0	0	LPCAT1	1554684	1554684	1.000000	0.71417	0.990000	0.47175	0.047000	0.14425	6.984000	0.76186	1.970000	0.57323	0.491000	0.48974	CGG		0.662	LPCAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304032.1		28.148746	9	9	78	78	NM_024830		10	29.144593	29.144593	22	0.312500	0	0	0	1	0	10	22	0.3125
DHPS	1725	broad.mit.edu	37	19	12790677	12790677	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:12790677C>T	ENST00000210060.7	-	3	567	c.432G>A	c.(430-432)gcG>gcA	p.A144A	DHPS_ENST00000594424.1_Silent_p.A102A|DHPS_ENST00000599481.1_5'UTR|CTD-2192J16.26_ENST00000593554.1_lincRNA|DHPS_ENST00000351660.5_Silent_p.A144A	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN	deoxyhypusine synthase	144					cellular protein metabolic process (GO:0044267)|deoxyhypusine biosynthetic process from spermidine (GO:0050983)|glucose homeostasis (GO:0042593)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell proliferation (GO:0042102)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|translation (GO:0006412)	cytosol (GO:0005829)	deoxyhypusine synthase activity (GO:0034038)			central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8						AGTATGTGGGCGCCAGGCACT	0.597																																						ENST00000210060.7											0			central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8						c.(430-432)gcG>gcA	deoxyhypusine synthase						69.0	69.0	69.0					19																	12790677		2203	4300	6503	SO:0001819	synonymous_variant	1725			peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation	cytosol	deoxyhypusine synthase activity|protein binding	g.chr19:12790677C>T	U79262	U79262	CCDS12276.1, CCDS12277.1, CCDS59354.1	CCDS12276.1, CCDS12277.1, CCDS59354.1	19p13.2	2011-11-24			2011-11-24			ENSG00000095059	ENSG00000095059	ENSG00000095059	ENSG00000095059				2869	2869	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""migration-inducing gene 13"""	"""migration-inducing gene 13"""	600944	600944						7673224	7673224	Standard	Standard	NM_001930	NM_001930		Approved	MIG13	uc002muh.2	uc002muh.2	P49366	P49366			ENST00000210060.7:c.432G>A	19.37:g.12790677C>T			DHPS_ENST00000599481.1_5'UTR|DHPS_ENST00000351660.5_Silent_p.A144A|DHPS_ENST00000594424.1_Silent_p.A102A	p.A144A	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN			3	567	-			144		A8K688|M0R1I5|Q13184|Q13276|Q9UDG0	Silent	SNP	ENST00000210060.7	37	c.432G>A	CCDS12276.1																																																																																									0.597	DHPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462708.1		2.974288	-16	-16	44	44	NM_001930		4	8.608022	8.608022	33	0.108108	0	0	0	1	0	4	33	0.108108
APBA2	321	broad.mit.edu	37	15	29406154	29406154	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr15:29406154G>A	ENST00000558402.1	+	15	2712	c.2113G>A	c.(2113-2115)Ggg>Agg	p.G705R	APBA2_ENST00000558330.1_Missense_Mutation_p.G693R|APBA2_ENST00000411764.1_Missense_Mutation_p.G693R|APBA2_ENST00000561069.1_Missense_Mutation_p.G705R|APBA2_ENST00000558259.1_Missense_Mutation_p.G705R			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	705	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CGAGATCAACGGGCAGAGCGT	0.607																																						ENST00000558402.1											0			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59						c.(2113-2115)Ggg>Agg	amyloid beta (A4) precursor protein-binding, family A, member 2						129.0	96.0	107.0					15																	29406154		2203	4300	6503	SO:0001583	missense	321			nervous system development|protein transport		protein binding	g.chr15:29406154G>A	AB014719	AB014719	CCDS10022.1, CCDS45197.1	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053	ENSG00000034053	ENSG00000034053				579	579	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602712	602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	8955346	Standard	Standard	NM_005503	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	uc001zck.3	Q99767	Q99767	OTTHUMG00000129255	OTTHUMG00000129255	ENST00000558402.1:c.2113G>A	15.37:g.29406154G>A	ENSP00000453293:p.Gly705Arg		APBA2_ENST00000558259.1_Missense_Mutation_p.G705R|APBA2_ENST00000558330.1_Missense_Mutation_p.G693R|APBA2_ENST00000561069.1_Missense_Mutation_p.G705R|APBA2_ENST00000411764.1_Missense_Mutation_p.G693R	p.G705R			Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	15	2712	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	705	PDZ 2.	E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	c.2113G>A	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.944749	0.92593	.	.	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.42513	0.97	4.36	4.36	0.52297	4.36	4.36	0.52297	PDZ/DHR/GLGF (4);	0.178298	0.36268	N	0.002691	T	0.72211	0.3432	M	0.92122	3.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.976	T	0.81263	-0.1012	10	0.87932	D	0	.	15.8783	0.79182	0.0:0.0:1.0:0.0	.	693;705	E9PGI4;Q99767	.;APBA2_HUMAN	R	693;705	ENSP00000409312:G693R	ENSP00000219865:G705R	G	+	1	0	0	APBA2	27193446	27193446	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.620000	0.98373	1.959000	0.56917	0.462000	0.41574	GGG		0.607	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3		-0.873159	18	18	63	63	NM_005503		3	6.775436	6.775436	38	0.073171	0	0	0	1	0	3	38	0.073171
BBOX1	8424	broad.mit.edu	37	11	27148866	27148866	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:27148866C>T	ENST00000529202.1	+	8	1369	c.1030C>T	c.(1030-1032)Cgc>Tgc	p.R344C	BBOX1_ENST00000263182.3_Missense_Mutation_p.R344C|BBOX1_ENST00000525090.1_Missense_Mutation_p.R344C|RP11-1L12.3_ENST00000530430.1_RNA|RP11-1L12.3_ENST00000526061.1_RNA|RP11-1L12.3_ENST00000525302.1_RNA|BBOX1_ENST00000528583.1_Missense_Mutation_p.R344C			O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	344					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	gamma-butyrobetaine dioxygenase activity (GO:0008336)|iron ion binding (GO:0005506)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	TGATAACTGGCGCTTACTTCA	0.403																																						ENST00000263182.3											0			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23						c.(1030-1032)Cgc>Tgc	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1						117.0	104.0	109.0					11																	27148866		2202	4299	6501	SO:0001583	missense	8424			carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr11:27148866C>T	AF082868	AF082868	CCDS7862.1	CCDS7862.1	11p	2008-02-01			2008-02-01			ENSG00000129151	ENSG00000129151	ENSG00000129151	ENSG00000129151	1.14.11.1			964	964	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603312	603312		BBOX		BBOX		9753662	9753662	Standard	Standard	XM_005253159	XM_005253159		Approved	gamma-BBH, G-BBH, BBH	uc001mre.1	uc001mre.1	O75936	O75936	OTTHUMG00000166121	OTTHUMG00000166121	ENST00000529202.1:c.1030C>T	11.37:g.27148866C>T	ENSP00000435781:p.Arg344Cys		RP11-1L12.3_ENST00000526061.1_RNA|RP11-1L12.3_ENST00000525302.1_RNA|BBOX1_ENST00000525090.1_Missense_Mutation_p.R344C|RP11-1L12.3_ENST00000530430.1_RNA|BBOX1_ENST00000529202.1_Missense_Mutation_p.R344C|BBOX1_ENST00000528583.1_Missense_Mutation_p.R344C	p.R344C	NM_003986.2	NP_003977.1	O75936	BODG_HUMAN			9	1398	+			344		B2R8L7|D3DQZ1|Q6IBJ2	Missense_Mutation	SNP	ENST00000529202.1	37	c.1030C>T	CCDS7862.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.887968	0.91814	.	.	ENSG00000129151	ENST00000529202;ENST00000263182;ENST00000528583;ENST00000525090	D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01	5.88	5.88	0.94601	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.94282	0.8163	M	0.91510	3.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94861	0.8022	10	0.87932	D	0	.	18.7825	0.91939	0.0:1.0:0.0:0.0	.	344	O75936	BODG_HUMAN	C	344	ENSP00000435781:R344C;ENSP00000263182:R344C;ENSP00000434918:R344C;ENSP00000433772:R344C	ENSP00000263182:R344C	R	+	1	0	0	BBOX1	27105442	27105442	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.835000	0.75344	2.780000	0.95670	0.655000	0.94253	CGC		0.403	BBOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387946.1		33.718054	10	10	82	82	NM_003986		14	37.441138	37.441138	45	0.237288	0	0	0	1	0	14	45	0.237288
ZFP1	162239	broad.mit.edu	37	16	75203964	75203964	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:75203964C>T	ENST00000393430.2	+	4	1080	c.956C>T	c.(955-957)aCg>aTg	p.T319M	ZFP1_ENST00000332307.4_Missense_Mutation_p.T286M|ZFP1_ENST00000464850.1_3'UTR|ZFP1_ENST00000568079.1_3'UTR|ZFP1_ENST00000570010.1_Missense_Mutation_p.T319M			Q6P2D0	ZFP1_HUMAN	ZFP1 zinc finger protein	319					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(2)|large_intestine(4)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	12						AAGATTCACACGGGGGAGAAA	0.418																																					NSCLC(187;1429 2122 10143 20357 42217)	ENST00000393430.2											0			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	12						c.(955-957)aCg>aTg	ZFP1 zinc finger protein						75.0	75.0	75.0					16																	75203964		2198	4300	6498	SO:0001583	missense	162239			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:75203964C>T	AK094761	AK094761	CCDS10914.2	CCDS10914.2	16q22.3	2013-01-08	2012-11-27		2013-01-08	2012-11-27		ENSG00000184517	ENSG00000184517	ENSG00000184517	ENSG00000184517		"""Zinc fingers, C2H2-type"", ""-"""	"""Zinc fingers, C2H2-type"", ""-"""	23328	23328	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""zinc finger protein 1 homolog (mouse)"", ""zinc finger protein 1"""		"""zinc finger protein 1 homolog (mouse)"", ""zinc finger protein 1"""			2574853	2574853	Standard	Standard	NM_153688	NM_153688		Approved	FLJ34243, ZNF475	uc002fdo.3	uc002fdo.3	Q6P2D0	Q6P2D0	OTTHUMG00000137602	OTTHUMG00000137602	ENST00000393430.2:c.956C>T	16.37:g.75203964C>T	ENSP00000377080:p.Thr319Met		ZFP1_ENST00000568079.1_3'UTR|ZFP1_ENST00000570010.1_Missense_Mutation_p.T319M|ZFP1_ENST00000464850.1_3'UTR|ZFP1_ENST00000332307.4_Missense_Mutation_p.T286M	p.T319M			Q6P2D0	ZFP1_HUMAN			4	1080	+			319		A8K5Q7|B4DKG9|Q8N188|Q8N9F9	Missense_Mutation	SNP	ENST00000393430.2	37	c.956C>T	CCDS10914.2	.	.	.	.	.	.	.	.	.	.	C	16.28	3.077911	0.55753	.	.	ENSG00000184517	ENST00000332307;ENST00000393430	T	0.26373	1.74	4.42	4.42	0.53409	4.42	4.42	0.53409	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49916	D	0.000134	T	0.53786	0.1818	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.59979	-0.7352	10	0.87932	D	0	-18.9255	15.3445	0.74324	0.0:1.0:0.0:0.0	.	319	Q6P2D0	ZFP1_HUMAN	M	319	ENSP00000377080:T319M	ENSP00000333192:T319M	T	+	2	0	0	ZFP1	73761465	73761465	0.930000	0.31532	0.970000	0.41538	0.666000	0.39218	2.042000	0.41222	2.744000	0.94065	0.655000	0.94253	ACG		0.418	ZFP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269013.2		60.085598	-10	-10	60	60	NM_153688		20	60.985206	60.985206	35	0.363636	0	0	0	1	0	20	35	0.363636
SCN2A	6326	broad.mit.edu	37	2	166210904	166210904	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:166210904C>T	ENST00000375437.2	+	17	3412	c.3122C>T	c.(3121-3123)cCg>cTg	p.P1041L	SCN2A_ENST00000283256.6_Missense_Mutation_p.P1041L|SCN2A_ENST00000357398.3_Missense_Mutation_p.P1041L|SCN2A_ENST00000375427.2_Missense_Mutation_p.P1041L	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1041					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GAAATTAAACCGCTTGAAGAT	0.338																																						ENST00000375437.2											0			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(3121-3123)cCg>cTg	sodium channel, voltage-gated, type II, alpha subunit						66.0	72.0	70.0					2																	166210904		2202	4300	6502	SO:0001583	missense	6326			myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166210904C>T	AB208888	AB208888	CCDS33313.1, CCDS33314.1	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	10588	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			182390	182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	1317301, 16382098	Standard	Standard	XM_005246753	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	uc002ude.3	Q99250	Q99250	OTTHUMG00000044172	OTTHUMG00000044172	ENST00000375437.2:c.3122C>T	2.37:g.166210904C>T	ENSP00000364586:p.Pro1041Leu		SCN2A_ENST00000375427.2_Missense_Mutation_p.P1041L|SCN2A_ENST00000283256.6_Missense_Mutation_p.P1041L|SCN2A_ENST00000357398.3_Missense_Mutation_p.P1041L	p.P1041L	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN			17	3412	+			1041		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.3122C>T	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602897	0.46423	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75	5.5	5.5	0.81552	5.5	5.5	0.81552	Sodium ion transport-associated (1);	1.448160	0.04529	N	0.386002	D	0.83811	0.5335	M	0.63428	1.95	0.58432	D	0.999999	B;P	0.34826	0.008;0.471	B;B	0.32624	0.006;0.149	T	0.70995	-0.4720	10	0.56958	D	0.05	.	14.2513	0.66021	0.1491:0.8509:0.0:0.0	.	1041;1041	Q99250-2;Q99250	.;SCN2A_HUMAN	L	1041	ENSP00000364586:P1041L;ENSP00000349973:P1041L;ENSP00000283256:P1041L;ENSP00000364576:P1041L	ENSP00000283256:P1041L	P	+	2	0	0	SCN2A	165919150	165919150	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.659000	0.61504	2.563000	0.86464	0.591000	0.81541	CCG		0.338	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2		14.398858	6	6	64	64	NM_021007		7	18.822936	18.822936	35	0.166667	0	0	0	1	0	7	35	0.166667
GPA33	10223	broad.mit.edu	37	1	167024307	167024307	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:167024307C>T	ENST00000367868.3	-	6	1076	c.733G>A	c.(733-735)Gtg>Atg	p.V245M	GPA33_ENST00000527955.1_5'UTR|RP11-102C16.3_ENST00000417644.1_RNA	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	245						extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GCTGCAACCACGCCCACCGCG	0.577																																						ENST00000367868.3											0			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(733-735)Gtg>Atg	glycoprotein A33 (transmembrane)						123.0	95.0	105.0					1																	167024307		2203	4300	6503	SO:0001583	missense	10223				integral to plasma membrane	receptor activity	g.chr1:167024307C>T	U79725	U79725	CCDS1258.1	CCDS1258.1	1q24.1	2013-01-29			2013-01-29			ENSG00000143167	ENSG00000143167	ENSG00000143167	ENSG00000143167		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	4445	4445	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602171	602171						9012807, 9245713	9012807, 9245713	Standard	Standard	NM_005814	NM_005814		Approved	A33	uc001gea.1	uc001gea.1	Q99795	Q99795	OTTHUMG00000034435	OTTHUMG00000034435	ENST00000367868.3:c.733G>A	1.37:g.167024307C>T	ENSP00000356842:p.Val245Met		GPA33_ENST00000527955.1_5'UTR|RP11-102C16.3_ENST00000417644.1_RNA	p.V245M	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN			6	1076	-			245		Q5VZP6	Missense_Mutation	SNP	ENST00000367868.3	37	c.733G>A	CCDS1258.1	.	.	.	.	.	.	.	.	.	.	C	8.157	0.788591	0.16258	.	.	ENSG00000143167	ENST00000367868	T	0.39056	1.1	4.76	1.63	0.23807	4.76	1.63	0.23807	.	0.559233	0.17383	N	0.176258	T	0.18002	0.0432	M	0.81497	2.545	0.09310	N	1	P	0.38711	0.643	B	0.23150	0.044	T	0.08146	-1.0736	10	0.54805	T	0.06	.	6.5687	0.22527	0.0:0.5217:0.3778:0.1005	.	245	Q99795	GPA33_HUMAN	M	245	ENSP00000356842:V245M	ENSP00000356842:V245M	V	-	1	0	0	GPA33	165290931	165290931	0.000000	0.05858	0.005000	0.12908	0.342000	0.28953	0.144000	0.16135	0.425000	0.26087	-0.234000	0.12200	GTG		0.577	GPA33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083245.1		16.240921	6	6	52	52	NM_005814		6	17.264748	17.264748	16	0.272727	0	0	0	1	0	6	16	0.272727
LRP2	4036	broad.mit.edu	37	2	170012798	170012798	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:170012798C>T	ENST00000263816.3	-	65	12422	c.12137G>A	c.(12136-12138)cGa>cAa	p.R4046Q		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4046	EGF-like 15; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	AGCTGCACATCGTTTTCCAGG	0.438																																						ENST00000263816.3											0			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(12136-12138)cGa>cAa	low density lipoprotein receptor-related protein 2						166.0	155.0	159.0					2																	170012798		2203	4300	6503	SO:0001583	missense	4036			hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170012798C>T			CCDS2232.1	CCDS2232.1	2q31.1	2013-05-28	2010-01-26		2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479	ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	"""Low density lipoprotein receptors"""	6694	6694	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""megalin"""	"""megalin"""	600073	600073						7959795	7959795	Standard	Standard	NM_004525	NM_004525		Approved	gp330, DBS	uc002ues.3	uc002ues.3	P98164	P98164	OTTHUMG00000132179	OTTHUMG00000132179	ENST00000263816.3:c.12137G>A	2.37:g.170012798C>T	ENSP00000263816:p.Arg4046Gln			p.R4046Q	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	65	12422	-			4046	EGF-like 15; calcium-binding (Potential).	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.12137G>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	8.986	0.976503	0.18736	.	.	ENSG00000081479	ENST00000263816	D	0.89196	-2.48	5.77	3.61	0.41365	5.77	3.61	0.41365	Growth factor, receptor (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.168923	0.52532	N	0.000062	T	0.73313	0.3571	N	0.14661	0.345	0.80722	D	1	B	0.26041	0.14	B	0.20384	0.029	T	0.64228	-0.6457	10	0.13470	T	0.59	.	4.4745	0.11729	0.0:0.5775:0.0:0.4225	.	4046	P98164	LRP2_HUMAN	Q	4046	ENSP00000263816:R4046Q	ENSP00000263816:R4046Q	R	-	2	0	0	LRP2	169721044	169721044	0.989000	0.36119	0.832000	0.32986	0.321000	0.28281	2.561000	0.45905	1.571000	0.49722	0.655000	0.94253	CGA		0.438	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2		6.050122	-5	-5	98	98	NM_004525		7	15.065544	15.065544	54	0.114754	0	0	0	1	0	7	54	0.114754
RADIL	55698	broad.mit.edu	37	7	4917502	4917502	+	Missense_Mutation	SNP	C	C	T	rs369472639		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:4917502C>T	ENST00000399583.3	-	2	456	c.269G>A	c.(268-270)cGt>cAt	p.R90H	RADIL_ENST00000536091.1_Missense_Mutation_p.R90H	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	90	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CACCAGCTCACGGGCGCTGGA	0.677																																						ENST00000399583.3											0			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(268-270)cGt>cAt	Ras association and DIL domains	C	HIS/ARG	1,4005		0,1,2002	22.0	27.0	26.0		269	-4.7	0.8	7		26	0,8252		0,0,4126	no	missense	RADIL	NM_018059.4	29	0,1,6128	TT,TC,CC		0.0,0.025,0.0082	benign	90/1076	4917502	1,12257	2003	4126	6129	SO:0001583	missense	55698			cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4917502C>T	AB058752	AB058752	CCDS43544.1	CCDS43544.1	7p22.1	2010-08-27			2010-08-27			ENSG00000157927	ENSG00000157927	ENSG00000157927	ENSG00000157927				22226	22226	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611491	611491						16051602, 17704304	16051602, 17704304	Standard	Standard	NM_018059	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	uc003snj.1	Q96JH8	Q96JH8	OTTHUMG00000151753	OTTHUMG00000151753	ENST00000399583.3:c.269G>A	7.37:g.4917502C>T	ENSP00000382492:p.Arg90His		RADIL_ENST00000536091.1_Missense_Mutation_p.R90H	p.R90H	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	2	456	-		Ovarian(82;0.0175)	90	Ras-associating.	A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	ENST00000399583.3	37	c.269G>A	CCDS43544.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.071178	0.36566	2.5E-4	0.0	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000536091;ENST00000457174	T;T;T	0.18960	2.18;2.18;2.18	5.83	-4.73	0.03259	5.83	-4.73	0.03259	Ras-association (3);	0.676927	0.14831	N	0.295865	T	0.12475	0.0303	L	0.35854	1.095	0.20196	N	0.999926	B	0.26775	0.159	B	0.15870	0.014	T	0.12967	-1.0527	10	0.45353	T	0.12	-12.2738	9.556	0.39339	0.0872:0.2855:0.0:0.6273	.	90	Q96JH8	RADIL_HUMAN	H	90;64;90;90	ENSP00000382492:R90H;ENSP00000442533:R90H;ENSP00000398057:R90H	ENSP00000320946:R64H	R	-	2	0	0	RADIL	4884028	4884028	0.042000	0.20092	0.777000	0.31699	0.586000	0.36452	-0.269000	0.08596	-0.651000	0.05415	-0.378000	0.06908	CGT		0.677	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2		34.591729	3	3	42	42	NM_018059		12	34.716906	34.716906	16	0.428571	0	0	0	1	0	12	16	0.428571
MYO3B	140469	broad.mit.edu	37	2	171371513	171371513	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:171371513C>T	ENST00000408978.4	+	29	3596	c.3453C>T	c.(3451-3453)agC>agT	p.S1151S	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Silent_p.S1124S|MYO3B_ENST00000334231.6_Silent_p.S1160S	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	1151					peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						AAGACTGCAGCGAGCCTGGTG	0.507																																						ENST00000334231.6											0			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						c.(3478-3480)agC>agT	myosin IIIB						79.0	80.0	80.0					2																	171371513		1930	4135	6065	SO:0001819	synonymous_variant	140469			response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171371513C>T			CCDS42773.1, CCDS46446.1	CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			2011-09-27			ENSG00000071909	ENSG00000071909	ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	"""Myosins / Myosin superfamily : Class III"""	15576	15576	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610040	610040								Standard	Standard	NM_001083615	NM_001083615		Approved		uc002ufy.3	uc002ufy.3	Q8WXR4	Q8WXR4	OTTHUMG00000154002	OTTHUMG00000154002	ENST00000408978.4:c.3453C>T	2.37:g.171371513C>T			MYO3B_ENST00000409044.3_Silent_p.S1124S|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Silent_p.S1151S	p.S1160S			Q8WXR4	MYO3B_HUMAN			29	3480	+			1151		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Silent	SNP	ENST00000408978.4	37	c.3480C>T	CCDS42773.1																																																																																									0.507	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1		10.157354	2	2	29	29			5	13.097255	13.097255	24	0.172414	0	0	0	1	0	5	24	0.172414
HRASLS5	117245	broad.mit.edu	37	11	63257788	63257788	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:63257788C>T	ENST00000301790.4	-	2	355	c.196G>A	c.(196-198)Gca>Aca	p.A66T	HRASLS5_ENST00000539221.1_Missense_Mutation_p.A66T|HRASLS5_ENST00000540857.1_Missense_Mutation_p.A56T			Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	66							transferase activity, transferring acyl groups (GO:0016746)	p.A66T(1)		endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						ACCAACGCTGCGAATCCCACG	0.537																																						ENST00000540857.1											1	Substitution - Missense(1)	large_intestine(1)	endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						c.(166-168)Gca>Aca	HRAS-like suppressor family, member 5						167.0	184.0	178.0					11																	63257788		2201	4298	6499	SO:0001583	missense	117245						g.chr11:63257788C>T	AJ416558	AJ416558	CCDS8044.1, CCDS53646.1, CCDS53647.1	CCDS8044.1, CCDS53646.1, CCDS53647.1	11q13.2	2006-08-16			2006-08-16			ENSG00000168004	ENSG00000168004	ENSG00000168004	ENSG00000168004				24978	24978	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611474	611474								Standard	Standard	NM_001146729	NM_001146729		Approved	HRLP5	uc001nwy.2	uc001nwy.2	Q96KN8	Q96KN8	OTTHUMG00000167806	OTTHUMG00000167806	ENST00000301790.4:c.196G>A	11.37:g.63257788C>T	ENSP00000301790:p.Ala66Thr		HRASLS5_ENST00000301790.4_Missense_Mutation_p.A66T|HRASLS5_ENST00000539221.1_Missense_Mutation_p.A66T	p.A56T	NM_001146728.1|NM_001146729.1|NM_054108.3	NP_001140200.1|NP_001140201|NP_473449.1	Q96KN8	HRSL5_HUMAN			2	298	-			66		B7X6T1|F5GZ87|F5H4Y9	Missense_Mutation	SNP	ENST00000301790.4	37	c.166G>A	CCDS8044.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.827867	0.32329	.	.	ENSG00000168004	ENST00000540857;ENST00000539221;ENST00000301790	T;T;T	0.28454	1.61;2.11;1.62	3.89	1.98	0.26296	3.89	1.98	0.26296	.	3.704160	0.00868	N	0.001990	T	0.23727	0.0574	N	0.24115	0.695	0.09310	N	1	B;B;B	0.33904	0.431;0.431;0.305	B;B;B	0.26770	0.073;0.037;0.033	T	0.34254	-0.9836	10	0.56958	D	0.05	-9.0494	10.3308	0.43820	0.0:0.4139:0.5861:0.0	.	66;56;66	F5GZ87;F5H4Y9;Q96KN8	.;.;HRSL5_HUMAN	T	56;66;66	ENSP00000444809:A56T;ENSP00000443873:A66T;ENSP00000301790:A66T	ENSP00000301790:A66T	A	-	1	0	0	HRASLS5	63014364	63014364	0.002000	0.14202	0.004000	0.12327	0.023000	0.10783	0.629000	0.24538	0.598000	0.29829	-0.165000	0.13383	GCA		0.537	HRASLS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396375.1		89.726544	-48	-48	216	216	NM_054108		39	103.065165	103.065165	141	0.216667	0	0	0	1	0	39	141	0.216667
ANKRD2	26287	broad.mit.edu	37	10	99343422	99343422	+	Silent	SNP	C	C	T	rs201529513		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr10:99343422C>T	ENST00000307518.5	+	9	1290	c.1023C>T	c.(1021-1023)aaC>aaT	p.N341N	ANKRD2_ENST00000298808.5_Silent_p.N308N|HOGA1_ENST00000370646.4_5'Flank|PI4K2A_ENST00000370649.3_5'Flank|PI4K2A_ENST00000555577.1_5'Flank|ANKRD2_ENST00000370655.1_Silent_p.N314N|HOGA1_ENST00000370647.4_5'Flank|ANKRD2_ENST00000455090.1_Silent_p.N281N			Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 (stretch responsive muscle)	341					muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|euchromatin (GO:0000791)|I band (GO:0031674)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	protein kinase B binding (GO:0043422)|structural constituent of muscle (GO:0008307)			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		CTGAGCATAACGGGCTGGAGG	0.677													C|||	1	0.000199681	0.0	0.0	5008	,	,		13617	0.001		0.0	False		,,,				2504	0.0					ENST00000307518.5											0			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7						c.(1021-1023)aaC>aaT	ankyrin repeat domain 2 (stretch responsive muscle)						25.0	22.0	23.0					10																	99343422		2196	4299	6495	SO:0001819	synonymous_variant	26287			muscle contraction|muscle organ development		structural constituent of muscle	g.chr10:99343422C>T	AJ304805	AJ304805	CCDS7466.1, CCDS44468.1	CCDS7466.1, CCDS44468.1	10q23	2013-01-10			2013-01-10			ENSG00000165887	ENSG00000165887	ENSG00000165887	ENSG00000165887		"""Ankyrin repeat domain containing"""	"""Ankyrin repeat domain containing"""	495	495	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610734	610734						10873377, 15136035, 15677738	10873377, 15136035, 15677738	Standard	Standard	NM_001129981	NM_001129981		Approved	ARPP	uc001knw.3	uc001knw.3	Q9GZV1	Q9GZV1	OTTHUMG00000018860	OTTHUMG00000018860	ENST00000307518.5:c.1023C>T	10.37:g.99343422C>T			ANKRD2_ENST00000298808.5_Silent_p.N308N|ANKRD2_ENST00000370655.1_Silent_p.N314N|ANKRD2_ENST00000455090.1_Silent_p.N281N	p.N341N			Q9GZV1	ANKR2_HUMAN		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)	9	1290	+		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)	341		Q3B778|Q5T456|Q70EZ9|Q8WUD7|Q96MG0|Q9NQC9	Silent	SNP	ENST00000307518.5	37	c.1023C>T	CCDS7466.1																																																																																									0.677	ANKRD2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			7.318175	-7	-7	11	11			3	8.181745	8.181745	10	0.230769	0	0	0	1	0	3	10	0.230769
GNAQ	2776	broad.mit.edu	37	9	80412493	80412493	+	Missense_Mutation	SNP	C	C	T	rs397514698		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:80412493C>T	ENST00000286548.4	-	4	770	c.548G>A	c.(547-549)cGa>cAa	p.R183Q	GNAQ_ENST00000397476.3_5'UTR	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	183			R -> Q (in SWS; found as somatic mosaic mutation in CMC; also found in melanocytomas sample; somatic mutation; shows significant activation of EPHB2 compared to control). {ECO:0000269|PubMed:22307269, ECO:0000269|PubMed:23656586}.		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.R183Q(9)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						GGTGGGGACTCGAACTCTAAG	0.468			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"""guanine nucleotide binding protein (G protein), q polypeptide"""		E	9	Substitution - Missense(9)	eye(8)|meninges(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(547-549)cGa>cAa	guanine nucleotide binding protein (G protein), q polypeptide						154.0	118.0	130.0					9																	80412493		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80412493C>T			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.548G>A	9.37:g.80412493C>T	ENSP00000286548:p.Arg183Gln		GNAQ_ENST00000397476.3_5'UTR	p.R183Q	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			4	770	-			183		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.548G>A	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	C	37	6.263420	0.97421	.	.	ENSG00000156052	ENST00000286548;ENST00000411677	D;D	0.91740	-2.9;-2.9	5.88	5.88	0.94601	5.88	5.88	0.94601	G protein alpha subunit, helical insertion (1);	0.000000	0.85682	D	0.000000	D	0.97498	0.9181	H	0.96547	3.84	0.80722	D	1	D	0.76494	0.999	D	0.65573	0.936	D	0.98057	1.0391	10	0.87932	D	0	.	20.2279	0.98344	0.0:1.0:0.0:0.0	.	183	P50148	GNAQ_HUMAN	Q	183;154	ENSP00000286548:R183Q;ENSP00000391501:R154Q	ENSP00000286548:R183Q	R	-	2	0	0	GNAQ	79602313	79602313	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.048000	0.71046	2.778000	0.95560	0.655000	0.94253	CGA		0.468	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		-2.042747	9	9	66	66	NM_002072		4	8.554581	8.554581	52	0.071429	0	0	0	1	0	4	52	0.071429
ERCC6L	54821	broad.mit.edu	37	X	71427099	71427099	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:71427099G>A	ENST00000334463.3	-	2	1653	c.1518C>T	c.(1516-1518)atC>atT	p.I506I	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000373657.1_Silent_p.I383I	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	506	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					CTGTCCCATCGATTCGCAATG	0.373																																						ENST00000373657.1											0			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38						c.(1147-1149)atC>atT	excision repair cross-complementing rodent repair deficiency, complementation group 6-like						109.0	100.0	103.0					X																	71427099		2203	4300	6503	SO:0001819	synonymous_variant	54821			cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding	g.chrX:71427099G>A	AK000112	AK000112	CCDS35329.1	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871	ENSG00000186871	ENSG00000186871				20794	20794	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""PLK1-interacting checkpoint helicase"""	"""PLK1-interacting checkpoint helicase"""	300687	300687	"""excision repair cross-complementing rodent repair deficiency, complementation group 6-like"""		"""excision repair cross-complementing rodent repair deficiency, complementation group 6-like"""			17218258	17218258	Standard	Standard	NM_017669	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	uc004eaq.1	Q2NKX8	Q2NKX8	OTTHUMG00000021810	OTTHUMG00000021810	ENST00000334463.3:c.1518C>T	X.37:g.71427099G>A			PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Silent_p.I506I	p.I383I			Q2NKX8	ERC6L_HUMAN			3	1751	-	Renal(35;0.156)		506		Q8NCI1|Q96H93|Q9NXQ8	Silent	SNP	ENST00000334463.3	37	c.1149C>T	CCDS35329.1																																																																																									0.373	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057174.2		52.258273	-2	-2	140	140	NM_017669		20	56.631957	56.631957	59	0.253165	0	0	0	1	0	20	59	0.253165
TECTA	7007	broad.mit.edu	37	11	121000772	121000772	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:121000772C>T	ENST00000392793.1	+	10	3064	c.2793C>T	c.(2791-2793)aaC>aaT	p.N931N	TECTA_ENST00000264037.2_Silent_p.N931N			O75443	TECTA_HUMAN	tectorin alpha	931					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GGGTGGTGAACGTCACTGCCT	0.587																																						ENST00000392793.1											0			NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(2791-2793)aaC>aaT	tectorin alpha						72.0	69.0	70.0					11																	121000772		2203	4299	6502	SO:0001819	synonymous_variant	7007			cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121000772C>T	AF055136	AF055136	CCDS8434.1	CCDS8434.1	11q22-q24	2008-02-05			2008-02-05			ENSG00000109927	ENSG00000109927	ENSG00000109927	ENSG00000109927				11720	11720	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602574	602574		DFNA12, DFNA8, DFNB21		DFNA12, DFNA8, DFNB21		9503015, 9590290	9503015, 9590290	Standard	Standard	NM_005422	NM_005422		Approved		uc010rzo.2	uc010rzo.2	O75443	O75443	OTTHUMG00000149908	OTTHUMG00000149908	ENST00000392793.1:c.2793C>T	11.37:g.121000772C>T			TECTA_ENST00000264037.2_Silent_p.N931N	p.N931N			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	10	3064	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	931			Silent	SNP	ENST00000392793.1	37	c.2793C>T	CCDS8434.1																																																																																									0.587	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1		28.019489	7	7	89	89	NM_005422		11	30.165176	30.165176	31	0.261905	0	0	0	1	0	11	31	0.261905
CASC3	22794	broad.mit.edu	37	17	38320407	38320407	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:38320407C>T	ENST00000264645.7	+	7	1685	c.1459C>T	c.(1459-1461)Cgg>Tgg	p.R487W		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	487	Necessary for localization in cytoplasmic stress granules.				gene expression (GO:0010467)|intracellular mRNA localization (GO:0008298)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						CCTGCAACCACGGGAACTTCG	0.493																																						ENST00000264645.7											0			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						c.(1459-1461)Cgg>Tgg	cancer susceptibility candidate 3						32.0	30.0	31.0					17																	38320407		2203	4300	6503	SO:0001583	missense	22794			mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding	g.chr17:38320407C>T	X80199	X80199	CCDS11362.1	CCDS11362.1	17q21.1	2012-09-20			2012-09-20			ENSG00000108349	ENSG00000108349	ENSG00000108349	ENSG00000108349				17040	17040	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606504	606504						7490069, 18332872	7490069, 18332872	Standard	Standard	NM_007359	NM_007359		Approved	MLN51, BTZ	uc002hue.3	uc002hue.3	O15234	O15234	OTTHUMG00000133323	OTTHUMG00000133323	ENST00000264645.7:c.1459C>T	17.37:g.38320407C>T	ENSP00000264645:p.Arg487Trp			p.R487W	NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN			7	1685	+			487	Necessary for localization in cytoplasmic stress granules.	A8K8R0	Missense_Mutation	SNP	ENST00000264645.7	37	c.1459C>T	CCDS11362.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.320969	0.23994	.	.	ENSG00000108349	ENST00000264645;ENST00000418132;ENST00000394114	.	.	.	5.08	4.06	0.47325	5.08	4.06	0.47325	.	0.094683	0.46758	D	0.000274	T	0.60689	0.2288	N	0.14661	0.345	0.44946	D	0.997969	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	T	0.67964	-0.5534	9	0.87932	D	0	-14.6551	15.8446	0.78876	0.1447:0.8553:0.0:0.0	.	487;487	B4DKR6;O15234	.;CASC3_HUMAN	W	487	.	ENSP00000264645:R487W	R	+	1	2	2	CASC3	35573933	35573933	0.998000	0.40836	0.983000	0.44433	0.930000	0.56654	3.419000	0.52728	2.648000	0.89879	0.563000	0.77884	CGG		0.493	CASC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257127.3		12.398752	11	11	28	28	NM_007359		4	12.485969	12.485969	6	0.400000	0	0	0	1	0	4	6	0.4
HTR2B	3357	broad.mit.edu	37	2	231973446	231973446	+	Missense_Mutation	SNP	G	G	A	rs180891719		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:231973446G>A	ENST00000258400.3	-	4	1743	c.1231C>T	c.(1231-1233)Cgc>Tgc	p.R411C	PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000488354.1_3'UTR|PSMD1_ENST00000308696.6_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	411					activation of phospholipase C activity (GO:0007202)|behavior (GO:0007610)|calcium-mediated signaling (GO:0019722)|cardiac muscle hypertrophy (GO:0003300)|cellular calcium ion homeostasis (GO:0006874)|cellular response to temperature stimulus (GO:0071502)|cGMP biosynthetic process (GO:0006182)|embryonic morphogenesis (GO:0048598)|ERK1 and ERK2 cascade (GO:0070371)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|heart morphogenesis (GO:0003007)|intestine smooth muscle contraction (GO:0014827)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell death (GO:0060548)|neural crest cell differentiation (GO:0014033)|neural crest cell migration (GO:0001755)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphorylation (GO:0016310)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	drug binding (GO:0008144)|G-protein alpha-subunit binding (GO:0001965)|Ras GTPase activator activity (GO:0005099)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Amoxapine(DB00543)|Apomorphine(DB00714)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Dihydroergotamine(DB00320)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Lisuride(DB00589)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Ropinirole(DB00268)|Triflupromazine(DB00508)|Yohimbine(DB01392)	TTACTGGAGCGTTTTCTGAGA	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		18957	0.001		0.0	False		,,,				2504	0.0				Ovarian(155;1331 1891 12853 14038 34991)	ENST00000258400.3											0			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11						c.(1231-1233)Cgc>Tgc	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled						135.0	133.0	133.0					2																	231973446		2203	4300	6503	SO:0001583	missense	3357			activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity	g.chr2:231973446G>A			CCDS2483.1	CCDS2483.1	2q36.3-q37.1	2012-08-08	2012-02-03		2012-08-08	2012-02-03		ENSG00000135914	ENSG00000135914	ENSG00000135914	ENSG00000135914		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5294	5294	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601122	601122	"""5-hydroxytryptamine (serotonin) receptor 2B"""		"""5-hydroxytryptamine (serotonin) receptor 2B"""			8143856	8143856	Standard	Standard	NM_000867	NM_000867		Approved	5-HT(2B), 5-HT2B	uc002vro.3	uc002vro.3	P41595	P41595	OTTHUMG00000133222	OTTHUMG00000133222	ENST00000258400.3:c.1231C>T	2.37:g.231973446G>A	ENSP00000258400:p.Arg411Cys		PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000488354.1_3'UTR	p.R411C	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	4	1743	-		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)	411		B2R9D5|Q53TI1|Q62221|Q6P523	Missense_Mutation	SNP	ENST00000258400.3	37	c.1231C>T	CCDS2483.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	2.320	-0.355782	0.05138	.	.	ENSG00000135914	ENST00000258400	T	0.62498	0.02	5.9	0.692	0.18050	5.9	0.692	0.18050	.	0.474985	0.25321	N	0.031519	T	0.20536	0.0494	N	0.00197	-1.87	0.34176	D	0.670379	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.10520	-1.0626	10	0.36615	T	0.2	.	6.7167	0.23308	0.6341:0.1135:0.2524:0.0	.	226;411	B3VRC5;P41595	.;5HT2B_HUMAN	C	411	ENSP00000258400:R411C	ENSP00000258400:R411C	R	-	1	0	0	HTR2B	231681690	231681690	0.305000	0.24481	0.083000	0.20561	0.019000	0.09904	1.592000	0.36676	-0.100000	0.12241	-0.781000	0.03364	CGC		0.428	HTR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256957.2		52.538002	-29	-29	74	74	NM_000867		18	53.295677	53.295677	31	0.367347	0	0	0	1	0	18	31	0.367347
APOA4	337	broad.mit.edu	37	11	116691776	116691776	+	Missense_Mutation	SNP	G	G	A	rs113263292		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:116691776G>A	ENST00000357780.3	-	3	1112	c.998C>T	c.(997-999)gCg>gTg	p.A333V		NM_000482.3	NP_000473.2	P06727	APOA4_HUMAN	apolipoprotein A-IV	333					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron assembly (GO:0034378)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle remodeling (GO:0034375)|hydrogen peroxide catabolic process (GO:0042744)|innate immune response in mucosa (GO:0002227)|leukocyte cell-cell adhesion (GO:0007159)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|multicellular organismal lipid catabolic process (GO:0044240)|negative regulation of plasma lipoprotein particle oxidation (GO:0034445)|phosphatidylcholine metabolic process (GO:0046470)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|protein-lipid complex assembly (GO:0065005)|regulation of cholesterol transport (GO:0032374)|regulation of intestinal cholesterol absorption (GO:0030300)|removal of superoxide radicals (GO:0019430)|response to lipid hydroperoxide (GO:0006982)|response to stilbenoid (GO:0035634)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|cholesterol transporter activity (GO:0017127)|copper ion binding (GO:0005507)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CACGTCCCCCGCATGGGGGCC	0.587																																						ENST00000357780.3											0			cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(997-999)gCg>gTg	apolipoprotein A-IV						70.0	66.0	67.0					11																	116691776		2201	4292	6493	SO:0001583	missense	337						g.chr11:116691776G>A			CCDS31681.1	CCDS31681.1	11q23.3	2013-01-24			2013-01-24			ENSG00000110244	ENSG00000110244	ENSG00000110244	ENSG00000110244		"""Apolipoproteins"""	"""Apolipoproteins"""	602	602	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			107690	107690								Standard	Standard	NM_000482	NM_000482		Approved		uc001pps.1	uc001pps.1	P06727	P06727	OTTHUMG00000046110	OTTHUMG00000046110	ENST00000357780.3:c.998C>T	11.37:g.116691776G>A	ENSP00000350425:p.Ala333Val			p.A333V	NM_000482.3	NP_000473.2				BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)	3	1112	-	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)			A8MSL6|Q14CW8|Q6Q787	Missense_Mutation	SNP	ENST00000357780.3	37	c.998C>T	CCDS31681.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.893194	0.72524	.	.	ENSG00000110244	ENST00000357780	T	0.77620	-1.11	5.39	5.39	0.77823	5.39	5.39	0.77823	Apolipoprotein/apolipophorin (1);	0.922519	0.09103	N	0.848216	D	0.86822	0.6025	M	0.87180	2.865	0.20196	N	0.999928	D	0.55385	0.971	P	0.49192	0.602	T	0.80358	-0.1416	10	0.62326	D	0.03	-17.4676	18.7213	0.91694	0.0:0.0:1.0:0.0	.	333	P06727	APOA4_HUMAN	V	333	ENSP00000350425:A333V	ENSP00000350425:A333V	A	-	2	0	0	APOA4	116196986	116196986	0.066000	0.20996	0.812000	0.32479	0.461000	0.32589	2.435000	0.44811	2.522000	0.85027	0.557000	0.71058	GCG		0.587	APOA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106279.2		28.405043	-46	-46	75	75	NM_000482		11	30.560016	30.560016	31	0.261905	0	0	0	1	0	11	31	0.261905
GLTSCR1	29998	broad.mit.edu	37	19	48204593	48204593	+	Missense_Mutation	SNP	G	G	A	rs536150980		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:48204593G>A	ENST00000396720.3	+	15	3798	c.3604G>A	c.(3604-3606)Gtg>Atg	p.V1202M	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	1202										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		AGACGAGTACGTGTCTTCCTC	0.662																																						ENST00000396720.3											0			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20						c.(3604-3606)Gtg>Atg	glioma tumor suppressor candidate region gene 1						17.0	21.0	20.0					19																	48204593		2019	4142	6161	SO:0001583	missense	29998					protein binding	g.chr19:48204593G>A	AF182077	AF182077	CCDS46134.1	CCDS46134.1	19q13.3	2012-11-29			2012-11-29			ENSG00000063169	ENSG00000063169	ENSG00000063169	ENSG00000063169				4332	4332	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605690	605690						10708517	10708517	Standard	Standard	NM_015711	NM_015711		Approved		uc002phh.4	uc002phh.4	Q9NZM4	Q9NZM4			ENST00000396720.3:c.3604G>A	19.37:g.48204593G>A	ENSP00000379946:p.Val1202Met		CTD-2571L23.8_ENST00000599924.1_lincRNA	p.V1202M	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)	15	3798	+		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)	1202		A8MW01	Missense_Mutation	SNP	ENST00000396720.3	37	c.3604G>A	CCDS46134.1	.	.	.	.	.	.	.	.	.	.	G	9.263	1.043815	0.19748	.	.	ENSG00000063169	ENST00000396720	T	0.35789	1.29	3.58	3.58	0.41010	3.58	3.58	0.41010	.	.	.	.	.	T	0.49695	0.1572	L	0.36672	1.1	0.32700	N	0.513025	D	0.89917	1.0	D	0.87578	0.998	T	0.61347	-0.7081	9	0.72032	D	0.01	.	14.1173	0.65161	0.0:0.0:1.0:0.0	.	1202	Q9NZM4	GSCR1_HUMAN	M	1202	ENSP00000379946:V1202M	ENSP00000379946:V1202M	V	+	1	0	0	GLTSCR1	52896405	52896405	1.000000	0.71417	0.988000	0.46212	0.059000	0.15707	3.698000	0.54771	1.834000	0.53371	0.462000	0.41574	GTG		0.662	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465846.1		11.198627	3	3	24	24	NM_015711		4	11.198627	11.198627	4	0.500000	0	0	0	1	0	4	4	0.5
ARHGEF17	9828	broad.mit.edu	37	11	73021350	73021350	+	Missense_Mutation	SNP	G	G	A	rs373537661		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:73021350G>A	ENST00000263674.3	+	1	2017	c.1667G>A	c.(1666-1668)cGc>cAc	p.R556H	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	556					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CCCATGGCCCGCCGCCTGCCC	0.657																																						ENST00000263674.3											0			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(1666-1668)cGc>cAc	Rho guanine nucleotide exchange factor (GEF) 17	G	HIS/ARG	1,4399	2.1+/-5.4	0,1,2199	40.0	44.0	42.0		1667	3.7	0.7	11		42	0,8584		0,0,4292	no	missense	ARHGEF17	NM_014786.3	29	0,1,6491	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	556/2064	73021350	1,12983	2200	4292	6492	SO:0001583	missense	9828			actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73021350G>A	AF378754	AF378754	CCDS8221.1	CCDS8221.1	11q13.3	2011-11-16			2011-11-16			ENSG00000110237	ENSG00000110237	ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	"""Rho guanine nucleotide exchange factors"""	21726	21726	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""								11559528, 12071859	11559528, 12071859	Standard	Standard	NM_014786	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	uc001otu.3	Q96PE2	Q96PE2	OTTHUMG00000167971	OTTHUMG00000167971	ENST00000263674.3:c.1667G>A	11.37:g.73021350G>A	ENSP00000263674:p.Arg556His			p.R556H	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN			1	2017	+			556		B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	c.1667G>A	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.781588	0.31502	2.27E-4	0.0	ENSG00000110237	ENST00000263674	T	0.60920	0.15	4.62	3.71	0.42584	4.62	3.71	0.42584	.	0.239416	0.34268	N	0.004104	T	0.41627	0.1167	L	0.27053	0.805	0.09310	N	1	B	0.14012	0.009	B	0.08055	0.003	T	0.39820	-0.9595	10	0.87932	D	0	-4.1359	8.1662	0.31228	0.1846:0.0:0.8154:0.0	.	556	Q96PE2	ARHGH_HUMAN	H	556	ENSP00000263674:R556H	ENSP00000263674:R556H	R	+	2	0	0	ARHGEF17	72698998	72698998	0.834000	0.29399	0.677000	0.29947	0.446000	0.32137	4.087000	0.57671	1.159000	0.42565	-0.258000	0.10820	CGC		0.657	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1		7.785671	0	0	50	50	NM_014786		4	10.09431	10.094310	19	0.173913	0	0	0	1	0	4	19	0.173913
TMEM45B	120224	broad.mit.edu	37	11	129722455	129722455	+	Silent	SNP	G	G	A	rs145339290	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:129722455G>A	ENST00000524567.1	+	2	359	c.78G>A	c.(76-78)ccG>ccA	p.P26P	TMEM45B_ENST00000281441.3_Silent_p.P26P			Q96B21	TM45B_HUMAN	transmembrane protein 45B	26						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		TGAAGTACCCGCTGAAGTACT	0.498																																						ENST00000281441.3											0			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						c.(76-78)ccG>ccA	transmembrane protein 45B	G		0,4402		0,0,2201	143.0	128.0	133.0		78	-8.9	0.0	11	dbSNP_134	133	6,8588	5.0+/-18.6	0,6,4291	no	coding-synonymous	TMEM45B	NM_138788.3		0,6,6492	AA,AG,GG		0.0698,0.0,0.0462		26/276	129722455	6,12990	2201	4297	6498	SO:0001819	synonymous_variant	120224				integral to membrane		g.chr11:129722455G>A	AK098106	AK098106	CCDS8482.1	CCDS8482.1	11q24.3	2008-02-05			2008-02-05				ENSG00000151715		ENSG00000151715				25194	25194	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12477932	12477932	Standard	Standard	NM_138788	NM_138788		Approved	BC016153, FLJ40787	uc001qfe.1	uc001qfe.1	Q96B21	Q96B21			ENST00000524567.1:c.78G>A	11.37:g.129722455G>A			TMEM45B_ENST00000524567.1_Silent_p.P26P	p.P26P	NM_138788.3	NP_620143.1	Q96B21	TM45B_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)	2	166	+	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	26		A8K2L8	Silent	SNP	ENST00000524567.1	37	c.78G>A	CCDS8482.1																																																																																									0.498	TMEM45B-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386062.1		121.544170	-4	-4	114	114	NM_138788		41	122.736521	122.736521	65	0.386792	0	0	0	1	0	41	65	0.386792
FOXP2	93986	broad.mit.edu	37	7	114304409	114304409	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:114304409G>A	ENST00000393494.2	+	16	2200	c.1921G>A	c.(1921-1923)Gtc>Atc	p.V641I	FOXP2_ENST00000350908.4_Missense_Mutation_p.V641I|FOXP2_ENST00000393489.3_Missense_Mutation_p.V549I|FOXP2_ENST00000393491.3_Missense_Mutation_p.V456I|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000408937.3_Missense_Mutation_p.V666I|FOXP2_ENST00000403559.4_Missense_Mutation_p.V658I|FOXP2_ENST00000393498.2_Missense_Mutation_p.V620I			O15409	FOXP2_HUMAN	forkhead box P2	641					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						ACTGCAGGCCGTCCACGAAGA	0.483																																						ENST00000408937.3											0			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(1996-1998)Gtc>Atc	forkhead box P2						91.0	82.0	85.0					7																	114304409		2203	4300	6503	SO:0001583	missense	93986			camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114304409G>A	U80741	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			2008-07-18			ENSG00000128573	ENSG00000128573	ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	"""Forkhead boxes"""	13875	13875	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317	605317		TNRC10, SPCH1		TNRC10, SPCH1		11586359, 9225980	11586359, 9225980	Standard	Standard	NM_014491	NM_014491		Approved	CAGH44	uc003vgz.3	uc003vgz.3	O15409	O15409	OTTHUMG00000023131	OTTHUMG00000023131	ENST00000393494.2:c.1921G>A	7.37:g.114304409G>A	ENSP00000377132:p.Val641Ile		FOXP2_ENST00000350908.4_Missense_Mutation_p.V641I|FOXP2_ENST00000393489.3_Missense_Mutation_p.V549I|FOXP2_ENST00000403559.4_Missense_Mutation_p.V658I|FOXP2_ENST00000393491.3_Missense_Mutation_p.V456I|FOXP2_ENST00000393498.2_Missense_Mutation_p.V620I|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000393494.2_Missense_Mutation_p.V641I	p.V666I	NM_001172766.2|NM_014491.3|NM_148898.3	NP_001166237.1|NP_055306.1|NP_683696.2	O15409	FOXP2_HUMAN			17	2370	+			641		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	ENST00000393494.2	37	c.1996G>A	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	G	7.019	0.558337	0.13436	.	.	ENSG00000128573	ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000393489;ENST00000393491	D;D;D;D;D;D	0.91180	-2.52;-2.53;-2.53;-2.52;-2.59;-2.8	5.57	5.57	0.84162	5.57	5.57	0.84162	.	0.180845	0.48286	D	0.000188	T	0.77844	0.4191	N	0.01874	-0.695	0.80722	D	1	B;B;B;B;B	0.25235	0.001;0.002;0.121;0.001;0.004	B;B;B;B;B	0.22152	0.001;0.001;0.038;0.001;0.002	T	0.74990	-0.3475	10	0.11794	T	0.64	.	19.5416	0.95277	0.0:0.0:1.0:0.0	.	640;658;456;641;666	B7ZLK5;B4DLD9;Q0PRL4;O15409;O15409-4	.;.;.;FOXP2_HUMAN;.	I	641;666;658;641;618;549;456	ENSP00000377132:V641I;ENSP00000386200:V666I;ENSP00000385069:V658I;ENSP00000265436:V641I;ENSP00000377129:V549I;ENSP00000377130:V456I	ENSP00000265436:V641I	V	+	1	0	0	FOXP2	114091645	114091645	1.000000	0.71417	0.960000	0.40013	0.950000	0.60333	3.026000	0.49689	2.614000	0.88457	0.655000	0.94253	GTC		0.483	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1		62.997483	-15	-15	45	45	NM_014491		20	63.018194	63.018194	22	0.476190	0	0	0	1	0	20	22	0.47619
PI4K2A	55361	broad.mit.edu	37	10	99416154	99416154	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr10:99416154G>A	ENST00000370631.3	+	3	806	c.749G>A	c.(748-750)cGc>cAc	p.R250H	PI4K2A_ENST00000370649.3_Missense_Mutation_p.R220H|PI4K2A_ENST00000555577.1_Missense_Mutation_p.R220H	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	250	PI3K/PI4K.				basophil degranulation (GO:0002561)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endosome (GO:0005768)|exocytic vesicle (GO:0070382)|Golgi apparatus (GO:0005794)|growing cell tip (GO:0035838)|host cell presynaptic membrane (GO:0044231)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|AP-3 adaptor complex binding (GO:0035651)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		CGGTTTAACCGCATCGGGCTA	0.498																																						ENST00000370631.3											0			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12						c.(748-750)cGc>cAc	phosphatidylinositol 4-kinase type 2 alpha						74.0	69.0	71.0					10																	99416154		2203	4300	6503	SO:0001583	missense	55361			phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding	g.chr10:99416154G>A	AF070611	AF070611	CCDS7469.1	CCDS7469.1	10q24	2011-02-09			2011-02-09			ENSG00000155252	ENSG00000155252	ENSG00000155252	ENSG00000155252				30031	30031	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609763	609763						11244087, 11279162	11244087, 11279162	Standard	Standard	NM_018425	NM_018425		Approved	PI4KII, DKFZP761G1923, PIK42A	uc001kog.1	uc001kog.1	Q9BTU6	Q9BTU6	OTTHUMG00000018863	OTTHUMG00000018863	ENST00000370631.3:c.749G>A	10.37:g.99416154G>A	ENSP00000359665:p.Arg250His		PI4K2A_ENST00000555577.1_Missense_Mutation_p.R220H|PI4K2A_ENST00000370649.3_Missense_Mutation_p.R220H	p.R250H	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)	3	806	+		Colorectal(252;0.162)	250	PI3K/PI4K.	D3DR59|Q9NSG8	Missense_Mutation	SNP	ENST00000370631.3	37	c.749G>A	CCDS7469.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751536	0.69533	.	.	ENSG00000155252;ENSG00000155252;ENSG00000249967	ENST00000555577;ENST00000370631;ENST00000370649	T;T;T	0.77229	-1.08;-1.08;-1.08	4.39	4.39	0.52855	4.39	4.39	0.52855	Phosphatidylinositol 3-/4-kinase, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.89646	0.6775	M	0.88031	2.925	0.80722	D	1	D;P	0.89917	1.0;0.909	D;P	0.79784	0.993;0.48	D	0.91320	0.5081	10	0.56958	D	0.05	-11.2823	17.5611	0.87908	0.0:0.0:1.0:0.0	.	220;250	E9PAM4;Q9BTU6	.;P4K2A_HUMAN	H	220;250;220	ENSP00000452243:R220H;ENSP00000359665:R250H;ENSP00000359683:R220H	ENSP00000359665:R250H	R	+	2	0	0	PI4K2A;RP11-548K23.11	99406144	99406144	1.000000	0.71417	0.999000	0.59377	0.948000	0.59901	9.601000	0.98297	2.437000	0.82529	0.650000	0.86243	CGC		0.498	PI4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049735.1		22.857722	5	5	62	62	NM_018425		9	24.902944	24.902944	27	0.250000	0	0	0	1	0	9	27	0.25
DSCAML1	57453	broad.mit.edu	37	11	117301699	117301699	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:117301699C>T	ENST00000321322.6	-	32	5606	c.5605G>A	c.(5605-5607)Gag>Aag	p.E1869K	DSCAML1_ENST00000527706.1_Missense_Mutation_p.E1599K	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1809					axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GCCAGCTCCTCGTAGGTGGAA	0.562																																						ENST00000321322.6											0			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(5605-5607)Gag>Aag	Down syndrome cell adhesion molecule like 1						140.0	129.0	133.0					11																	117301699		2201	4296	6497	SO:0001583	missense	57453			axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117301699C>T			CCDS8384.1	CCDS8384.1	11q22.2-q22.3	2013-02-11			2013-02-11			ENSG00000177103	ENSG00000177103	ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	14656	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611782	611782						11453658	11453658	Standard	Standard	NM_020693	NM_020693		Approved	KIAA1132	uc001prh.1	uc001prh.1	Q8TD84	Q8TD84	OTTHUMG00000167071	OTTHUMG00000167071	ENST00000321322.6:c.5605G>A	11.37:g.117301699C>T	ENSP00000315465:p.Glu1869Lys		DSCAML1_ENST00000527706.1_Missense_Mutation_p.E1599K	p.E1869K	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	32	5606	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1809		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.5605G>A	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	34	5.401603	0.96030	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.70282	-0.42;-0.47	5.04	5.04	0.67666	5.04	5.04	0.67666	.	.	.	.	.	T	0.77212	0.4097	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80317	-0.1433	9	0.87932	D	0	.	18.5658	0.91116	0.0:1.0:0.0:0.0	.	1809	Q8TD84	DSCL1_HUMAN	K	1599;1869;1576	ENSP00000434335:E1599K;ENSP00000315465:E1869K	ENSP00000315465:E1869K	E	-	1	0	0	DSCAML1	116806909	116806909	1.000000	0.71417	0.990000	0.47175	0.954000	0.61252	7.651000	0.83577	2.628000	0.89032	0.591000	0.81541	GAG		0.562	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2		122.856198	-29	-29	104	104	NM_020693		38	123.347053	123.347053	26	0.593750	0	0	0	1	0	38	26	0.59375
KRI1	65095	broad.mit.edu	37	19	10671902	10671902	+	Silent	SNP	G	G	A	rs565439115		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:10671902G>A	ENST00000312962.6	-	7	565	c.546C>T	c.(544-546)ggC>ggT	p.G182G	KRI1_ENST00000537964.1_5'UTR|KRI1_ENST00000361821.5_Silent_p.G178G	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	176	Glu-rich.					nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CCTCCCCAGCGCCGTCCTCGT	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		16454	0.0		0.0	False		,,,				2504	0.001					ENST00000312962.6											0			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						c.(544-546)ggC>ggT	KRI1 homolog (S. cerevisiae)						75.0	74.0	74.0					19																	10671902		2203	4300	6503	SO:0001819	synonymous_variant	65095						g.chr19:10671902G>A			CCDS12242.1	CCDS12242.1	19p13.2	2008-02-05			2008-02-05			ENSG00000129347	ENSG00000129347	ENSG00000129347	ENSG00000129347				25769	25769	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12878157	12878157	Standard	Standard	NM_023008	NM_023008		Approved	FLJ12949	uc002moy.1	uc002moy.1	Q8N9T8	Q8N9T8	OTTHUMG00000150343	OTTHUMG00000150343	ENST00000312962.6:c.546C>T	19.37:g.10671902G>A			KRI1_ENST00000361821.5_Silent_p.G178G|KRI1_ENST00000537964.1_5'UTR	p.G182G	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		7	565	-			182	Glu-rich.	Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978	Silent	SNP	ENST00000312962.6	37	c.546C>T	CCDS12242.1	.	.	.	.	.	.	.	.	.	.	G	2.682	-0.275109	0.05679	.	.	ENSG00000129347	ENST00000543682	.	.	.	4.23	-8.47	0.00939	4.23	-8.47	0.00939	.	.	.	.	.	T	0.44953	0.1318	.	.	.	0.38895	D	0.957201	.	.	.	.	.	.	T	0.53322	-0.8455	4	.	.	.	-2.9809	6.5943	0.22664	0.2534:0.0837:0.5271:0.1357	.	.	.	.	V	120	.	.	A	-	2	0	0	KRI1	10532902	10532902	0.000000	0.05858	0.002000	0.10522	0.397000	0.30659	-2.795000	0.00764	-3.223000	0.00211	-0.369000	0.07265	GCG		0.642	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317705.1		-0.405859	-24	-24	64	64	NM_023008		3	7.00585	7.005850	37	0.075000	0	0	0	1	0	3	37	0.075
NEB	4703	broad.mit.edu	37	2	152348986	152348986	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:152348986C>T	ENST00000172853.10	-	144	19367	c.19220G>A	c.(19219-19221)cGg>cAg	p.R6407Q	NEB_ENST00000427231.2_Missense_Mutation_p.R8263Q|NEB_ENST00000409198.1_Missense_Mutation_p.R6407Q|NEB_ENST00000603639.1_Missense_Mutation_p.R8263Q|NEB_ENST00000397336.2_Missense_Mutation_p.R238Q|RIF1_ENST00000457745.1_Intron|NEB_ENST00000397345.3_Missense_Mutation_p.R8263Q|NEB_ENST00000498015.2_5'UTR|NEB_ENST00000604864.1_Missense_Mutation_p.R8263Q|NEB_ENST00000509223.2_Missense_Mutation_p.R176Q			P20929	NEBU_HUMAN	nebulin	6407					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TATTTGTTTCCGGAAACTATC	0.483																																						ENST00000427231.2											0			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(24787-24789)cGg>cAg	nebulin						84.0	87.0	86.0					2																	152348986		1878	4113	5991	SO:0001583	missense	4703			muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152348986C>T	X83957	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			2014-09-17			ENSG00000183091	ENSG00000183091	ENSG00000183091	ENSG00000183091				7720	7720	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	"""nemaline myopathy type 2"""	161650	161650		NEM2		NEM2		10051637, 9359044	10051637, 9359044	Standard	Standard	NM_001164507	NM_001164507		Approved	NEB177D	uc010fnx.3	uc010fnx.3	P20929	P20929	OTTHUMG00000153784	OTTHUMG00000153784	ENST00000172853.10:c.19220G>A	2.37:g.152348986C>T	ENSP00000172853:p.Arg6407Gln		NEB_ENST00000509223.2_Missense_Mutation_p.R176Q|NEB_ENST00000397336.2_Missense_Mutation_p.R238Q|NEB_ENST00000498015.2_5'UTR|NEB_ENST00000172853.10_Missense_Mutation_p.R6407Q|RIF1_ENST00000457745.1_Intron|NEB_ENST00000603639.1_Missense_Mutation_p.R8263Q|NEB_ENST00000409198.1_Missense_Mutation_p.R6407Q|NEB_ENST00000397345.3_Missense_Mutation_p.R8263Q|NEB_ENST00000604864.1_Missense_Mutation_p.R8263Q	p.R8263Q	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	177	24990	-			6573		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.24788G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.423854|5.423854	0.96111|0.96111	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000397337;ENST00000434685|ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853;ENST00000397336;ENST00000509223	.|T;T;T;T;T;T;T	.|0.46063	.|0.88;0.88;0.88;0.88;0.88;0.88;0.88	5.63|5.63	5.63|5.63	0.86233|0.86233	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	.|0.176577	.|0.50627	.|D	.|0.000120	T|T	0.59418|0.59418	0.2192|0.2192	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	.|D;D;P;D;P;D	.|0.76494	.|0.999;0.996;0.9;0.999;0.95;0.995	.|D;D;B;D;B;D	.|0.80764	.|0.994;0.939;0.362;0.948;0.316;0.935	T|T	0.52931|0.52931	-0.8509|-0.8509	5|10	.|0.35671	.|T	.|0.21	.|.	19.2633|19.2633	0.93977|0.93977	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|176;238;176;6407;2745;8263	.|B7Z6B9;B7Z6P9;B7Z6N8;P20929;Q14215;F8WCL5	.|.;.;.;NEBU_HUMAN;.;.	R|Q	397;504|6407;8263;8263;2363;2745;6407;238;176	.|ENSP00000386259:R6407Q;ENSP00000380505:R8263Q;ENSP00000416578:R8263Q;ENSP00000410961:R2745Q;ENSP00000172853:R6407Q;ENSP00000380497:R238Q;ENSP00000427083:R176Q	.|ENSP00000172853:R6407Q	G|R	-|-	1|2	0|0	0|0	NEB|NEB	152057232|152057232	152057232|152057232	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.651000|7.651000	0.83577|0.83577	2.639000|2.639000	0.89480|0.89480	0.655000|0.655000	0.94253|0.94253	GGA|CGG		0.483	NEB-201	KNOWN	basic	protein_coding	protein_coding			33.925825	-33	-33	75	75	NM_004543		14	38.77704	38.777040	51	0.215385	0	0	0	1	0	14	51	0.215385
PTPRU	10076	broad.mit.edu	37	1	29638168	29638168	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:29638168G>A	ENST00000345512.3	+	22	3128	c.2999G>A	c.(2998-3000)cGg>cAg	p.R1000Q	PTPRU_ENST00000428026.2_Missense_Mutation_p.R987Q|PTPRU_ENST00000356870.3_Missense_Mutation_p.R996Q|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000460170.2_Missense_Mutation_p.R996Q|PTPRU_ENST00000373779.3_Missense_Mutation_p.R990Q|PTPRU_ENST00000323874.8_Missense_Mutation_p.R996Q	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1000	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		AAATGCTCACGGTACTGGCCG	0.617																																						ENST00000356870.3											0			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79						c.(2986-2988)cGg>cAg	protein tyrosine phosphatase, receptor type, U						95.0	88.0	90.0					1																	29638168		2203	4300	6503	SO:0001583	missense	10076			canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29638168G>A	U71075	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			2013-02-11			ENSG00000060656	ENSG00000060656	ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	9683	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	"""pi R-PTP-Psi"""	602454	602454						8700514, 9434160	8700514, 9434160	Standard	Standard	NM_133178	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	uc001bru.3	Q92729	Q92729	OTTHUMG00000003699	OTTHUMG00000003699	ENST00000345512.3:c.2999G>A	1.37:g.29638168G>A	ENSP00000334941:p.Arg1000Gln		PTPRU_ENST00000428026.2_Missense_Mutation_p.R987Q|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000323874.8_Missense_Mutation_p.R996Q|PTPRU_ENST00000373779.3_Missense_Mutation_p.R990Q|PTPRU_ENST00000345512.3_Missense_Mutation_p.R1000Q|PTPRU_ENST00000460170.2_Missense_Mutation_p.R996Q	p.R996Q	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	22	3097	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	1000	Tyrosine-protein phosphatase 1.	A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	c.2987G>A	CCDS334.1	.	.	.	.	.	.	.	.	.	.	G	7.767	0.706569	0.15239	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68;1.68	4.67	4.67	0.58626	4.67	4.67	0.58626	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.071954	0.56097	D	0.000038	T	0.04182	0.0116	N	0.00358	-1.6	0.39989	D	0.975012	P;P;P;P;P	0.46395	0.741;0.851;0.741;0.877;0.877	B;B;B;B;B	0.31614	0.081;0.081;0.081;0.133;0.133	T	0.26052	-1.0114	9	.	.	.	.	6.6842	0.23136	0.1925:0.0:0.8075:0.0	.	987;996;990;996;1000	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	Q	1000;990;996;996;987;996	ENSP00000334941:R1000Q;ENSP00000362884:R990Q;ENSP00000349333:R996Q;ENSP00000314987:R996Q;ENSP00000392332:R987Q;ENSP00000432906:R996Q	.	R	+	2	0	0	PTPRU	29510755	29510755	1.000000	0.71417	0.987000	0.45799	0.685000	0.39939	7.439000	0.80444	2.592000	0.87571	0.591000	0.81541	CGG		0.617	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1		75.696483	-27	-27	76	76			24	75.798804	75.798804	29	0.452830	0	0	0	1	0	24	29	0.45283
OR5C1	392391	broad.mit.edu	37	9	125551867	125551867	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:125551867C>T	ENST00000373680.2	+	1	718	c.656C>T	c.(655-657)aCg>aTg	p.T219M		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						TTAGCTATCACGGTGTCTTAT	0.597																																						ENST00000373680.2											0			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						c.(655-657)aCg>aTg	olfactory receptor, family 5, subfamily C, member 1						85.0	80.0	82.0					9																	125551867		2203	4300	6503	SO:0001583	missense	392391			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125551867C>T	AF399514	AF399514	CCDS35131.1	CCDS35131.1	9q34.2	2012-08-09			2012-08-09			ENSG00000148215	ENSG00000148215	ENSG00000148215	ENSG00000148215		"""GPCR / Class A : Olfactory receptors"""	"""GPCR / Class A : Olfactory receptors"""	8331	8331	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product						OR5C2P		OR5C2P				Standard	Standard	NM_001001923	NM_001001923		Approved	OR9-F, hRPK-465_F_21	uc011lzd.2	uc011lzd.2	Q8NGR4	Q8NGR4	OTTHUMG00000020622	OTTHUMG00000020622	ENST00000373680.2:c.656C>T	9.37:g.125551867C>T	ENSP00000362784:p.Thr219Met			p.T219M	NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN			1	718	+			219		B2RN54|B9EGT0|Q96RC4	Missense_Mutation	SNP	ENST00000373680.2	37	c.656C>T	CCDS35131.1	.	.	.	.	.	.	.	.	.	.	C	3.407	-0.121022	0.06838	.	.	ENSG00000148215	ENST00000373680	T	0.00084	8.75	5.26	-1.88	0.07713	5.26	-1.88	0.07713	GPCR, rhodopsin-like superfamily (1);	0.215125	0.23211	U	0.050663	T	0.00073	0.0002	N	0.16066	0.365	0.09310	N	1	P	0.45594	0.862	B	0.36418	0.224	T	0.49762	-0.8905	10	0.56958	D	0.05	.	11.0123	0.47669	0.0:0.3217:0.0:0.6783	.	219	Q8NGR4	OR5C1_HUMAN	M	219	ENSP00000362784:T219M	ENSP00000362784:T219M	T	+	2	0	0	OR5C1	124591688	124591688	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	0.348000	0.20031	-0.590000	0.05866	0.655000	0.94253	ACG		0.597	OR5C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053953.1		56.913817	-13	-13	59	59			19	57.545134	57.545134	31	0.380000	0	0	0	1	0	19	31	0.38
SLC45A4	57210	hgsc.bcm.edu	37	8	142227253	142227253	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr8:142227253G>A	ENST00000024061.3	-	5	1819	c.1512C>T	c.(1510-1512)aaC>aaT	p.N504N	SLC45A4_ENST00000519067.1_Silent_p.N504N|SLC45A4_ENST00000517878.1_Silent_p.N555N|SLC45A4_ENST00000433583.2_Silent_p.N497N	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TGACCCCGGCGTTGTAGGCTT	0.627																																																	0																	70.0	69.0	69.0					8																	142227253		2203	4300	6503	SO:0001819	synonymous_variant	57210							AB032952	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22			2013-05-22								"""Solute carriers"""	"""Solute carriers"""	29196	29196	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001080431	NM_001080431		Approved	KIAA1126	uc003ywd.1	uc003ywd.1	Q5BKX6	Q5BKX6			ENST00000024061.3:c.1512C>T	8.37:g.142227253G>A																		Q6ZRI2|Q9ULU3	Silent	SNP	ENST00000024061.3	37		CCDS34948.1																																																																																									0.627	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3			-1	-1	67	67	XM_050325		15			28							15	28	
ARSF	416	broad.mit.edu	37	X	3002384	3002384	+	Silent	SNP	C	C	T	rs141924849	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:3002384C>T	ENST00000381127.1	+	6	728	c.507C>T	c.(505-507)ctC>ctT	p.L169L	ARSF_ENST00000359361.2_Silent_p.L169L|ARSF_ENST00000537104.1_Silent_p.L169L	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	169					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGTTCACTCTCGTTGACAGCT	0.532													t|||	19	0.00503311	0.0	0.0	3775	,	,		14369	0.0		0.0	False		,,,				2504	0.0194					ENST00000381127.1											0			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38						c.(505-507)ctC>ctT	arylsulfatase F	C	,,	0,3835		0,0,0,1632,571	146.0	111.0	123.0		507,507,507	-6.9	0.0	X	dbSNP_134	123	1,6727		0,0,1,2428,1871	no	coding-synonymous,coding-synonymous,coding-synonymous	ARSF	NM_001201538.1,NM_001201539.1,NM_004042.4	,,	0,0,1,4060,2442	TT,TC,T,CC,C		0.0149,0.0,0.0095	,,	169/591,169/591,169/591	3002384	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	416				extracellular region	arylsulfatase activity|metal ion binding	g.chrX:3002384C>T	X97868	X97868	CCDS14123.1	CCDS14123.1	Xp22.3	2013-02-14			2013-02-14			ENSG00000062096	ENSG00000062096	ENSG00000062096	ENSG00000062096		"""Arylsulfatase family"""	"""Arylsulfatase family"""	721	721	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300003	300003						7720070	7720070	Standard	Standard	NM_004042	NM_004042		Approved		uc022brz.1	uc022brz.1	P54793	P54793	OTTHUMG00000021081	OTTHUMG00000021081	ENST00000381127.1:c.507C>T	X.37:g.3002384C>T			ARSF_ENST00000359361.2_Silent_p.L169L|ARSF_ENST00000537104.1_Silent_p.L169L	p.L169L	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN			6	728	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	169		Q8TCC5	Silent	SNP	ENST00000381127.1	37	c.507C>T	CCDS14123.1																																																																																									0.532	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1		96.519665	0	0	77	77			31	96.63462	96.634620	37	0.455882	0	0	0	1	0	31	37	0.455882
CD93	22918	broad.mit.edu	37	20	23065702	23065702	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr20:23065702G>A	ENST00000246006.4	-	1	1275	c.1128C>T	c.(1126-1128)ggC>ggT	p.G376G		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	376	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CTCCAGGACCGCCCGGCTCAT	0.632																																						ENST00000246006.4											0			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1126-1128)ggC>ggT	CD93 molecule						44.0	45.0	45.0					20																	23065702		2203	4300	6503	SO:0001819	synonymous_variant	22918			cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23065702G>A	U94333	U94333	CCDS13149.1	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810	ENSG00000125810	ENSG00000125810		"""CD molecules"""	"""CD molecules"""	15855	15855	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			120577	120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	9047234, 10648005	Standard	Standard	NM_012072	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	uc002wsv.3	Q9NPY3	Q9NPY3	OTTHUMG00000032058	OTTHUMG00000032058	ENST00000246006.4:c.1128C>T	20.37:g.23065702G>A				p.G376G	NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN			1	1275	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		376	EGF-like 3; calcium-binding (Potential).	O00274	Silent	SNP	ENST00000246006.4	37	c.1128C>T	CCDS13149.1																																																																																									0.632	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2		2.003013	-21	-21	30	30	NM_012072		3	6.544737	6.544737	26	0.103448	0	0	0	1	0	3	26	0.103448
BICD1	636	broad.mit.edu	37	12	32480498	32480498	+	Missense_Mutation	SNP	G	G	A	rs199625504		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:32480498G>A	ENST00000281474.5	+	5	1212	c.1109G>A	c.(1108-1110)cGg>cAg	p.R370Q	BICD1_ENST00000548411.1_Missense_Mutation_p.R370Q	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	370					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			CGGGTGCACCGGCTCACAGAG	0.622																																						ENST00000548411.1											0			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(1108-1110)cGg>cAg	bicaudal D homolog 1 (Drosophila)						55.0	51.0	53.0					12																	32480498		2203	4300	6503	SO:0001583	missense	636			anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	g.chr12:32480498G>A	U90028	U90028	CCDS8726.1, CCDS44859.1	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28		2005-01-13	2001-11-28			ENSG00000151746		ENSG00000151746				1049	1049	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602204	602204	"""Bicaudal D (Drosophila) homolog 1"""		"""Bicaudal D (Drosophila) homolog 1"""			9367685	9367685	Standard	Standard	NM_001714	NM_001714		Approved		uc001rku.3	uc001rku.3	Q96G01	Q96G01	OTTHUMG00000169307	OTTHUMG00000169307	ENST00000281474.5:c.1109G>A	12.37:g.32480498G>A	ENSP00000281474:p.Arg370Gln		BICD1_ENST00000281474.5_Missense_Mutation_p.R370Q	p.R370Q	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0201)		5	1290	+	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		370		A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	ENST00000281474.5	37	c.1109G>A	CCDS8726.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.622932	0.46840	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	T;T	0.44881	0.91;0.91	5.21	4.3	0.51218	5.21	4.3	0.51218	.	0.061324	0.64402	D	0.000009	T	0.38825	0.1055	L	0.61036	1.89	0.80722	D	1	P;B	0.52577	0.954;0.035	B;B	0.39738	0.308;0.008	T	0.31971	-0.9924	10	0.27082	T	0.32	.	14.6784	0.68998	0.074:0.0:0.926:0.0	.	370;370	F8W113;Q96G01	.;BICD1_HUMAN	Q	370	ENSP00000446793:R370Q;ENSP00000281474:R370Q	ENSP00000281474:R370Q	R	+	2	0	0	BICD1	32371765	32371765	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.561000	0.60809	2.592000	0.87571	0.650000	0.86243	CGG		0.622	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1		18.146394	-9	-9	29	29	NM_001714		6	18.365733	18.365733	10	0.375000	0	0	0	1	0	6	10	0.375
PGS1	9489	broad.mit.edu	37	17	76421569	76421569	+	IGR	SNP	C	C	T	rs572367991		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:76421569C>T	ENST00000262764.6	+	0	2201				DNAH17_ENST00000389840.5_Silent_p.T4356T|DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Silent_p.T4328T|AC061992.1_ENST00000600087.1_5'Flank	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1						cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			GCATGATGGCCGTGAGGAACG	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		17759	0.001		0.0	False		,,,				2504	0.0				Esophageal Squamous(45;182 1126 10685 43198)	ENST00000389840.5											0			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(13066-13068)acG>acA	dynein, axonemal, heavy chain 17						71.0	69.0	70.0					17																	76421569		2203	4300	6503	SO:0001628	intergenic_variant	8632						g.chr17:76421569C>T		AJ000522	CCDS42391.1		17q25.3	2006-02-09			2012-04-19	2006-09-04				ENSG00000187775	ENSG00000187775			"""Axonemal dyneins"""	30029	2946	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614942	610063			"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9880566	9545504	Standard	Standard	XR_243691	NM_173628		Approved	DKFZP762M186	uc002jvm.3	uc010dhp.2	Q32NB8	Q9UFH2				17.37:g.76421569C>T			DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Silent_p.T4328T	p.T4356T					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		80	13192	-					B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	Silent	SNP	ENST00000262764.6	37	c.13068G>A	CCDS42391.1																																																																																									0.597	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437301.1		39.437106	16	16	58	58	NM_024419		14	40.469779	40.469779	28	0.333333	0	0	0	1	0	14	28	0.333333
ESR1	2099	broad.mit.edu	37	6	152332878	152332878	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:152332878C>T	ENST00000206249.3	+	5	1546	c.1184C>T	c.(1183-1185)tCc>tTc	p.S395F	ESR1_ENST00000338799.5_Missense_Mutation_p.S395F|ESR1_ENST00000443427.1_Missense_Mutation_p.S395F|ESR1_ENST00000456483.2_Missense_Mutation_p.S283F|ESR1_ENST00000427531.2_Missense_Mutation_p.S222F|ESR1_ENST00000440973.1_Missense_Mutation_p.S395F|ESR1_ENST00000406599.1_Intron	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	395	Interaction with AKAP13.|Self-association.|Steroid-binding.|Transactivation AF-2.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	GTCTGGCGCTCCATGGAGCAC	0.493																																						ENST00000440973.1											0			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49						c.(1183-1185)tCc>tTc	estrogen receptor 1						144.0	129.0	134.0					6																	152332878		2203	4300	6503	SO:0001583	missense	2099			positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr6:152332878C>T	X03635	X03635	CCDS5234.1	CCDS5234.1	6q24-q27	2013-01-16			2013-01-16			ENSG00000091831	ENSG00000091831	ENSG00000091831	ENSG00000091831		"""Nuclear hormone receptors"""	"""Nuclear hormone receptors"""	3467	3467	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			133430	133430		ESR		ESR		3754034	3754034	Standard	Standard	NM_000125	NM_000125		Approved	NR3A1, Era	uc003qon.4	uc003qon.4	P03372	P03372	OTTHUMG00000016103	OTTHUMG00000016103	ENST00000206249.3:c.1184C>T	6.37:g.152332878C>T	ENSP00000206249:p.Ser395Phe		ESR1_ENST00000456483.2_Missense_Mutation_p.S283F|ESR1_ENST00000427531.2_Missense_Mutation_p.S222F|ESR1_ENST00000443427.1_Missense_Mutation_p.S395F|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000206249.3_Missense_Mutation_p.S395F|ESR1_ENST00000338799.5_Missense_Mutation_p.S395F	p.S395F	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	7	1554	+		Ovarian(120;0.0448)	395	Interaction with AKAP13.|Steroid-binding.	Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Missense_Mutation	SNP	ENST00000206249.3	37	c.1184C>T	CCDS5234.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.4|29.4	4.999208|4.999208	0.93227|0.93227	.|.	.|.	ENSG00000091831|ENSG00000091831	ENST00000427531|ENST00000440973;ENST00000338799;ENST00000456483;ENST00000431219;ENST00000443427;ENST00000206249;ENST00000431590;ENST00000544394;ENST00000415488	.|D;D;D;D;D;D;D	.|0.97378	.|-4.36;-4.36;-4.36;-4.36;-4.36;-4.36;-4.36	5.42|5.42	5.42|5.42	0.78866|0.78866	5.42|5.42	5.42|5.42	0.78866|0.78866	.|Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99080|0.99080	0.9684|0.9684	H|H	0.96489|0.96489	3.83|3.83	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;0.999;1.0;1.0;1.0	.|D;D;D;D;D;D	.|0.91635	.|0.998;0.999;0.998;0.999;0.998;0.999	D|D	0.99421|0.99421	1.0933|1.0933	5|10	.|0.87932	.|D	.|0	.|.	19.21|19.21	0.93749|0.93749	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|299;176;90;394;395;395	.|B0QYW6;E7EVR3;C8CJL6;A8KAF4;G4XH65;P03372	.|.;.;.;.;.;ESR1_HUMAN	S|F	300|395;395;283;176;395;395;323;222;68	.|ENSP00000405330:S395F;ENSP00000342630:S395F;ENSP00000415934:S283F;ENSP00000387500:S395F;ENSP00000206249:S395F;ENSP00000445454:S222F;ENSP00000401995:S68F	.|ENSP00000206249:S395F	P|S	+|+	1|2	0|0	0|0	ESR1|ESR1	152374571|152374571	152374571|152374571	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.487000|7.487000	0.81328|0.81328	2.541000|2.541000	0.85698|0.85698	0.591000|0.591000	0.81541|0.81541	CCA|TCC		0.493	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1		149.420684	-23	-23	119	119			47	149.440879	149.440879	50	0.484536	0	0	0	1	0	47	50	0.484536
SLC19A1	6573	broad.mit.edu	37	21	46951857	46951857	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr21:46951857G>A	ENST00000311124.4	-	3	547	c.395C>T	c.(394-396)gCg>gTg	p.A132V	SLC19A1_ENST00000380010.4_Missense_Mutation_p.A132V|SLC19A1_ENST00000567670.1_Missense_Mutation_p.A132V|SLC19A1_ENST00000485649.2_Missense_Mutation_p.A92V	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	132					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	Methotrexate(DB00563)|Pralatrexate(DB06813)	GGCGATGCGCGCGGCCATGGT	0.667																																						ENST00000311124.4											0			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(394-396)gCg>gTg	solute carrier family 19 (folate transporter), member 1						20.0	22.0	21.0					21																	46951857		2193	4292	6485	SO:0001583	missense	6573			folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity	g.chr21:46951857G>A	U15939	U15939	CCDS13725.1, CCDS56217.1, CCDS56218.1	CCDS13725.1, CCDS56217.1, CCDS56218.1	21q22.3	2013-05-22			2013-05-22			ENSG00000173638	ENSG00000173638	ENSG00000173638	ENSG00000173638		"""Solute carriers"""	"""Solute carriers"""	10937	10937	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600424	600424						9570943	9570943	Standard	Standard	NM_194255	NM_194255		Approved	FOLT	uc002zhl.2	uc002zhl.2	P41440	P41440	OTTHUMG00000090397	OTTHUMG00000090397	ENST00000311124.4:c.395C>T	21.37:g.46951857G>A	ENSP00000308895:p.Ala132Val		SLC19A1_ENST00000485649.2_Missense_Mutation_p.A92V|SLC19A1_ENST00000380010.4_Missense_Mutation_p.A132V|SLC19A1_ENST00000567670.1_Missense_Mutation_p.A132V	p.A132V	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN		Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	3	547	-			132		B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Missense_Mutation	SNP	ENST00000311124.4	37	c.395C>T	CCDS13725.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.518952	0.64634	.	.	ENSG00000173638	ENST00000311124;ENST00000380010;ENST00000485649;ENST00000427839;ENST00000443742	D;D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46;-2.46	4.95	4.95	0.65309	4.95	4.95	0.65309	Major facilitator superfamily domain, general substrate transporter (1);	0.114089	0.56097	D	0.000022	D	0.95522	0.8545	M	0.91196	3.185	0.58432	D	0.999993	D;D;D;D	0.89917	1.0;0.998;0.998;0.994	D;P;P;P	0.72982	0.979;0.87;0.87;0.87	D	0.96378	0.9279	10	0.72032	D	0.01	-37.0548	17.1012	0.86651	0.0:0.0:1.0:0.0	.	92;154;132;132	B7Z8C3;D3DSM6;E9PFY4;P41440	.;.;.;S19A1_HUMAN	V	132;132;92;132;132	ENSP00000308895:A132V;ENSP00000369347:A132V;ENSP00000441772:A92V;ENSP00000401850:A132V;ENSP00000411345:A132V	ENSP00000308895:A132V	A	-	2	0	0	SLC19A1	45776285	45776285	1.000000	0.71417	0.076000	0.20297	0.002000	0.02628	7.113000	0.77095	2.460000	0.83146	0.462000	0.41574	GCG		0.667	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206796.1		16.677804	-3	-3	12	12			5	16.966272	16.966272	2	0.714286	0	0	0	1	0	5	2	0.714286
SNRNP25	79622	broad.mit.edu	37	16	105487	105487	+	Missense_Mutation	SNP	T	T	C			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:105487T>C	ENST00000383018.3	+	2	259	c.98T>C	c.(97-99)aTa>aCa	p.I33T	SNRNP25_ENST00000493672.1_3'UTR|POLR3K_ENST00000293860.5_5'Flank	NM_024571.3	NP_078847.1	Q9BV90	SNR25_HUMAN	small nuclear ribonucleoprotein 25kDa (U11/U12)	33					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)				large_intestine(1)|lung(2)	3						AACTCCCAAATAGCCCTAGAA	0.498																																						ENST00000383018.3											0			large_intestine(1)|lung(2)	3						c.(97-99)aTa>aCa	small nuclear ribonucleoprotein 25kDa (U11/U12)						205.0	179.0	188.0					16																	105487		2203	4300	6503	SO:0001583	missense	79622			mRNA processing	U12-type spliceosomal complex		g.chr16:105487T>C	BC001381	BC001381	CCDS10396.1	CCDS10396.1	16p13.3	2011-10-11	2008-10-29	2008-10-29	2011-10-11	2008-10-29	2008-10-29	ENSG00000161981	ENSG00000161981	ENSG00000161981	ENSG00000161981				14161	14161	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""U11/U12 snRNP 25K"""	"""U11/U12 snRNP 25K"""			"""chromosome 16 open reading frame 33"""	C16orf33	"""chromosome 16 open reading frame 33"""	C16orf33		15146077	15146077	Standard	Standard	NM_024571	NM_024571		Approved		uc002cfj.4	uc002cfj.4	Q9BV90	Q9BV90	OTTHUMG00000060720	OTTHUMG00000060720	ENST00000383018.3:c.98T>C	16.37:g.105487T>C	ENSP00000372482:p.Ile33Thr		SNRNP25_ENST00000493672.1_3'UTR	p.I33T	NM_024571.3	NP_078847.1	Q9BV90	SNR25_HUMAN			2	259	+			33		Q1W6H3|Q6IEF8|Q9H5W4	Missense_Mutation	SNP	ENST00000383018.3	37	c.98T>C	CCDS10396.1	.	.	.	.	.	.	.	.	.	.	.	13.46	2.242658	0.39598	.	.	ENSG00000161981	ENST00000293861;ENST00000383018;ENST00000417493	.	.	.	5.58	4.5	0.54988	5.58	4.5	0.54988	.	0.051814	0.85682	D	0.000000	T	0.67924	0.2945	M	0.82323	2.585	0.49798	D	0.99982	D	0.63046	0.992	P	0.51657	0.676	T	0.71994	-0.4424	9	0.87932	D	0	-19.6039	10.0521	0.42221	0.0:0.0788:0.0:0.9212	.	33	Q9BV90	SNR25_HUMAN	T	24;33;24	.	ENSP00000293861:I24T	I	+	2	0	0	SNRNP25	45487	45487	1.000000	0.71417	0.998000	0.56505	0.386000	0.30323	6.967000	0.76079	0.980000	0.38523	0.460000	0.39030	ATA		0.498	SNRNP25-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			-5.631902	4	4	170	170	NM_024571		5	12.18211	12.182110	82	0.057471	0	0	0	1	0	5	82	0.057471
CEP131	22994	broad.mit.edu	37	17	79193765	79193765	+	Missense_Mutation	SNP	C	C	T	rs372370793		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:79193765C>T	ENST00000269392.4	-	2	339	c.92G>A	c.(91-93)cGg>cAg	p.R31Q	AZI1_ENST00000374782.3_Missense_Mutation_p.R31Q|AZI1_ENST00000575907.1_Missense_Mutation_p.R31Q|AZI1_ENST00000450824.2_Missense_Mutation_p.R31Q	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		31					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GCCAGGACGCCGGGACACAGG	0.662																																						ENST00000269392.4											0			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36						c.(91-93)cGg>cAg	5-azacytidine induced 1	C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	95.0	86.0	89.0		92,92	1.4	0.8	17		89	0,8600		0,0,4300	no	missense,missense	AZI1	NM_001009811.2,NM_014984.2	43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	31/1045,31/1081	79193765	1,13005	2203	4300	6503	SO:0001583	missense	22994			cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle		g.chr17:79193765C>T																																																	ENST00000269392.4:c.92G>A	17.37:g.79193765C>T	ENSP00000269392:p.Arg31Gln		AZI1_ENST00000575907.1_Missense_Mutation_p.R31Q|AZI1_ENST00000450824.2_Missense_Mutation_p.R31Q|AZI1_ENST00000374782.3_Missense_Mutation_p.R31Q	p.R31Q	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		2	339	-	all_neural(118;0.0804)|Melanoma(429;0.242)		31		A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP	ENST00000269392.4	37	c.92G>A		.	.	.	.	.	.	.	.	.	.	C	11.06	1.526782	0.27299	2.27E-4	0.0	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	T;T;T	0.23348	1.91;1.91;1.91	4.01	1.36	0.22044	4.01	1.36	0.22044	.	0.633633	0.14040	N	0.345497	T	0.15003	0.0362	L	0.34521	1.04	0.27817	N	0.941921	B;B;B;B	0.29188	0.093;0.093;0.236;0.038	B;B;B;B	0.16722	0.011;0.011;0.016;0.008	T	0.18398	-1.0338	10	0.28530	T	0.3	-9.6986	6.4005	0.21636	0.0:0.5742:0.0:0.4258	.	31;31;31;31	B2RN10;Q9UPN4;Q9UPN4-3;Q9UPN4-2	.;AZI1_HUMAN;.;.	Q	31	ENSP00000393583:R31Q;ENSP00000363914:R31Q;ENSP00000269392:R31Q	ENSP00000269392:R31Q	R	-	2	0	0	AZI1	76808360	76808360	0.937000	0.31787	0.817000	0.32601	0.629000	0.37895	0.189000	0.17037	0.070000	0.16634	0.462000	0.41574	CGG		0.662	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1		96.149057	7	7	103	103			30	96.203002	96.203002	34	0.468750	0	0	0	1	0	30	34	0.46875
CUL7	9820	broad.mit.edu	37	6	43010840	43010840	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:43010840C>T	ENST00000265348.3	-	18	3519	c.3434G>A	c.(3433-3435)cGc>cAc	p.R1145H	CUL7_ENST00000535468.1_Missense_Mutation_p.R1229H|CUL7_ENST00000478630.1_5'Flank			Q14999	CUL7_HUMAN	cullin 7	1145					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCGCCAACAGCGCGTCAGGTT	0.592																																						ENST00000535468.1											0			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49						c.(3685-3687)cGc>cAc	cullin 7						55.0	56.0	55.0					6																	43010840		2203	4300	6503	SO:0001583	missense	9820			interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	g.chr6:43010840C>T	BC033647	BC033647	CCDS4881.1, CCDS55003.1	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090	ENSG00000044090	ENSG00000044090				21024	21024	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609577	609577	"""KIAA0076"""	KIAA0076	"""KIAA0076"""	KIAA0076		12481031, 12904573	12481031, 12904573	Standard	Standard	NM_014780	NM_014780		Approved	dJ20C7.5	uc011dvb.2	uc011dvb.2	Q14999	Q14999	OTTHUMG00000014718	OTTHUMG00000014718	ENST00000265348.3:c.3434G>A	6.37:g.43010840C>T	ENSP00000265348:p.Arg1145His		CUL7_ENST00000265348.3_Missense_Mutation_p.R1145H	p.R1229H	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		18	3772	-			1145		B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	37	c.3686G>A	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024918	0.75390	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.80123	-1.33;-1.34	5.61	4.63	0.57726	5.61	4.63	0.57726	.	0.430196	0.28042	N	0.016821	T	0.61274	0.2334	L	0.45581	1.43	0.80722	D	1	B;P;B;B	0.34934	0.421;0.476;0.251;0.253	B;B;B;B	0.33392	0.034;0.057;0.163;0.117	T	0.67948	-0.5538	10	0.52906	T	0.07	-13.0531	6.9955	0.24780	0.0:0.7421:0.0:0.2579	.	1229;1145;1229;1145	F5H0L1;A8K9U1;B4DYZ0;Q14999	.;.;.;CUL7_HUMAN	H	1145;1229	ENSP00000265348:R1145H;ENSP00000438788:R1229H	ENSP00000265348:R1145H	R	-	2	0	0	CUL7	43118818	43118818	0.988000	0.35896	1.000000	0.80357	0.915000	0.54546	0.382000	0.20635	2.641000	0.89580	0.591000	0.81541	CGC		0.592	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1		26.871420	-3	-3	56	56	NM_014780		12	29.780974	29.780974	37	0.244898	0	0	0	1	0	12	37	0.244898
EIF5A	1984	broad.mit.edu	37	17	7213113	7213113	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:7213113C>T	ENST00000336458.8	+	2	560	c.159C>T	c.(157-159)caC>caT	p.H53H	EIF5A_ENST00000573542.1_Silent_p.H53H|EIF5A_ENST00000416016.2_Silent_p.H53H|EIF5A_ENST00000419711.2_Silent_p.H53H|EIF5A_ENST00000336452.7_Silent_p.H83H|EIF5A_ENST00000572815.1_Silent_p.H53H|EIF5A_ENST00000576930.1_Silent_p.H53H|EIF5A_ENST00000571955.1_Silent_p.H53H	NM_001970.4	NP_001961.1	P63241	IF5A1_HUMAN	eukaryotic translation initiation factor 5A	53	DOHH-binding.				apoptotic process (GO:0006915)|cellular protein metabolic process (GO:0044267)|mRNA export from nucleus (GO:0006406)|nucleocytoplasmic transport (GO:0006913)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of cell proliferation (GO:0008284)|positive regulation of translational elongation (GO:0045901)|positive regulation of translational termination (GO:0045905)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|translational frameshifting (GO:0006452)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation elongation factor activity (GO:0003746)|U6 snRNA binding (GO:0017070)			endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1)	6						AGCACGGCCACGCCAAGGTTA	0.527																																						ENST00000336458.8											0			endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1)	6						c.(157-159)caC>caT	eukaryotic translation initiation factor 5A						133.0	117.0	122.0					17																	7213113		2203	4300	6503	SO:0001819	synonymous_variant	1984			induction of apoptosis|mRNA export from nucleus|peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein export from nucleus|translational frameshifting|transmembrane transport	annulate lamellae|cytosol|endoplasmic reticulum membrane|nuclear pore	protein N-terminus binding|ribosome binding|translation elongation factor activity|U6 snRNA binding	g.chr17:7213113C>T			CCDS11099.1, CCDS45601.1	CCDS11099.1, CCDS45601.1	17p13-p12	2009-05-01			2009-05-01			ENSG00000132507	ENSG00000132507	ENSG00000132507	ENSG00000132507				3300	3300	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600187	600187						7759117	7759117	Standard	Standard	NM_001143760	NM_001143760		Approved	EIF5A1, EIF-5A, MGC99547, MGC104255	uc002gfr.3	uc002gfr.3	P63241	P63241	OTTHUMG00000102197	OTTHUMG00000102197	ENST00000336458.8:c.159C>T	17.37:g.7213113C>T			EIF5A_ENST00000419711.2_Silent_p.H53H|EIF5A_ENST00000573542.1_Silent_p.H53H|EIF5A_ENST00000336452.7_Silent_p.H83H|EIF5A_ENST00000416016.2_Silent_p.H53H|EIF5A_ENST00000571955.1_Silent_p.H53H|EIF5A_ENST00000576930.1_Silent_p.H53H|EIF5A_ENST00000572815.1_Silent_p.H53H	p.H53H	NM_001970.4	NP_001961.1	P63241	IF5A1_HUMAN			2	560	+			53	DOHH-binding.	A8K9A0|D3DTP2|P10159|Q16182|Q7L7L3|Q7Z4L1|Q9D0G2	Silent	SNP	ENST00000336458.8	37	c.159C>T	CCDS11099.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.243257	0.22796	.	.	ENSG00000132507	ENST00000355068	.	.	.	4.55	-5.91	0.02269	4.55	-5.91	0.02269	.	.	.	.	.	T	0.49660	0.1570	.	.	.	0.80722	D	1	B	0.24186	0.099	B	0.17098	0.017	T	0.17684	-1.0361	7	0.87932	D	0	-17.9213	13.8611	0.63561	0.0:0.5405:0.0:0.4595	.	51	F5H5Z4	.	M	51	.	ENSP00000347180:T51M	T	+	2	0	0	EIF5A	7153837	7153837	0.699000	0.27786	0.948000	0.38648	0.987000	0.75469	-0.258000	0.08733	-1.174000	0.02754	-0.362000	0.07510	ACG		0.527	EIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220047.3		2.836141	-18	-18	73	73	NM_001970		5	11.854012	11.854012	49	0.092593	0	0	0	1	0	5	49	0.092593
MUC4	4585	broad.mit.edu	37	3	195474130	195474130	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr3:195474130C>T	ENST00000346145.4	-	24	3487	c.3448G>A	c.(3448-3450)Ggg>Agg	p.G1150R	MUC4_ENST00000463781.3_Missense_Mutation_p.G5386R|MUC4_ENST00000349607.4_Missense_Mutation_p.G1099R|MUC4_ENST00000475231.1_Missense_Mutation_p.G5334R	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	2143					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACGAACGTCCCGACCCCCAGC	0.637																																						ENST00000463781.3											0			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(16156-16158)Ggg>Agg	mucin 4, cell surface associated						77.0	81.0	80.0					3																	195474130		2203	4300	6503	SO:0001583	missense	4585			cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195474130C>T	AJ276359	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113	ENSG00000145113	ENSG00000145113		"""Mucins"""	"""Mucins"""	7514	7514	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			158372	158372	"""mucin 4, tracheobronchial"""		"""mucin 4, tracheobronchial"""			1673336	1673336	Standard	Standard	NM_004532	NM_004532		Approved		uc021xjp.1	uc021xjp.1	Q99102	Q99102	OTTHUMG00000151827	OTTHUMG00000151827	ENST00000346145.4:c.3448G>A	3.37:g.195474130C>T	ENSP00000304207:p.Gly1150Arg		MUC4_ENST00000349607.4_Missense_Mutation_p.G1099R|MUC4_ENST00000346145.4_Missense_Mutation_p.G1150R|MUC4_ENST00000475231.1_Missense_Mutation_p.G5334R	p.G5386R	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	25	16615	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	2143		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000346145.4	37	c.16156G>A	CCDS3310.1	.	.	.	.	.	.	.	.	.	.	c	12.97	2.097113	0.37048	.	.	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409	T;T;T;T	0.37584	1.19;1.55;1.41;1.47	5.14	2.27	0.28462	5.14	2.27	0.28462	.	1.906250	0.03227	N	0.178498	T	0.37892	0.1020	L	0.43152	1.355	0.09310	N	1	D;D;D;D;D;D	0.67145	0.996;0.98;0.98;0.967;0.967;0.98	P;P;P;B;B;P	0.47915	0.561;0.482;0.482;0.289;0.289;0.482	T	0.13045	-1.0524	10	0.62326	D	0.03	0.2878	4.248	0.10680	0.189:0.616:0.0:0.195	.	5258;1099;1150;5386;5334;2091	E7ESK3;Q99102-12;Q99102-13;E9PDY6;E7ENC5;Q99102-10	.;.;.;.;.;.	R	1099;1150;5386;5334;1886	ENSP00000338109:G1099R;ENSP00000304207:G1150R;ENSP00000417498:G5386R;ENSP00000420243:G5334R	ENSP00000304207:G1150R	G	-	1	0	0	MUC4	196959801	196959801	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.162000	0.10012	0.164000	0.19529	0.543000	0.68304	GGG		0.637	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1		23.733853	35	35	110	110	NM_018406		10	26.181793	26.181793	31	0.243902	0	0	0	1	0	10	31	0.243902
ZNF324	25799	broad.mit.edu	37	19	58983109	58983109	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:58983109G>A	ENST00000536459.2	+	4	1959	c.1250G>A	c.(1249-1251)cGc>cAc	p.R417H	ZNF324_ENST00000196482.3_Missense_Mutation_p.R417H|ZNF324_ENST00000535298.1_Missense_Mutation_p.R194H|ZNF446_ENST00000596341.1_5'Flank			O75467	Z324A_HUMAN	zinc finger protein 324	417					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		AAGCACCAGCGCGTGCACACA	0.662																																						ENST00000536459.2											0			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16						c.(1249-1251)cGc>cAc	zinc finger protein 324						41.0	41.0	41.0					19																	58983109		2203	4299	6502	SO:0001583	missense	25799			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58983109G>A	AF060503	AF060503	CCDS12981.1	CCDS12981.1	19q13.43	2013-01-08			2013-01-08				ENSG00000083812		ENSG00000083812		"""Zinc fingers, C2H2-type"", ""-"""	"""Zinc fingers, C2H2-type"", ""-"""	14096	14096	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_014347	NM_014347		Approved	ZF5128, ZNF324A	uc002qsw.2	uc002qsw.2	O75467	O75467			ENST00000536459.2:c.1250G>A	19.37:g.58983109G>A	ENSP00000444812:p.Arg417His		ZNF324_ENST00000196482.3_Missense_Mutation_p.R417H|ZNF324_ENST00000535298.1_Missense_Mutation_p.R194H	p.R417H			O75467	Z324A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	4	1959	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	417		B3KRX1	Missense_Mutation	SNP	ENST00000536459.2	37	c.1250G>A	CCDS12981.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.565449	0.65651	.	.	ENSG00000083812	ENST00000196482;ENST00000536459;ENST00000539101;ENST00000535298	T;T;T	0.25749	1.78;1.78;1.78	3.84	3.84	0.44239	3.84	3.84	0.44239	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38663	N	0.001606	T	0.52901	0.1763	M	0.82823	2.61	0.39593	D	0.969614	D	0.89917	1.0	D	0.85130	0.997	T	0.62282	-0.6887	10	0.72032	D	0.01	.	14.0557	0.64767	0.0:0.0:1.0:0.0	.	417	O75467	Z324A_HUMAN	H	417;417;407;194	ENSP00000196482:R417H;ENSP00000444812:R417H;ENSP00000439588:R194H	ENSP00000196482:R417H	R	+	2	0	0	ZNF324	63674921	63674921	0.855000	0.29742	0.948000	0.38648	0.519000	0.34347	4.700000	0.61803	2.433000	0.82419	0.400000	0.26472	CGC		0.662	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467044.1		75.030971	-12	-12	45	45	NM_014347		24	75.092981	75.092981	28	0.461538	0	0	0	1	0	24	28	0.461538
AGAP1	116987	broad.mit.edu	37	2	237032585	237032585	+	Missense_Mutation	SNP	G	G	A	rs138364081	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:237032585G>A	ENST00000304032.8	+	18	2973	c.2393G>A	c.(2392-2394)cGa>cAa	p.R798Q	AGAP1_ENST00000409538.1_Missense_Mutation_p.R1010Q|AGAP1_ENST00000336665.5_Missense_Mutation_p.R745Q|AGAP1_ENST00000428334.2_Missense_Mutation_p.R637Q	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	798			R -> G (in an autistic patient). {ECO:0000269|PubMed:15892143}.		protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GTCACGGCCCGAGATGCCCAC	0.647																																						ENST00000304032.8											0			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(2392-2394)cGa>cAa	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	G	GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	47.0	49.0	48.0		2393,2234	4.2	1.0	2	dbSNP_134	48	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	AGAP1	NM_001037131.2,NM_014914.4	43,43	0,5,6498	AA,AG,GG		0.0349,0.0454,0.0384	probably-damaging,probably-damaging	798/858,745/805	237032585	5,13001	2203	4300	6503	SO:0001583	missense	116987			protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr2:237032585G>A	AF413078	AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	16922	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608651	608651	"""centaurin, gamma 2"""	CENTG2	"""centaurin, gamma 2"""	CENTG2				Standard	Standard	NM_001037131	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	uc002vvs.3	Q9UPQ3	Q9UPQ3	OTTHUMG00000133293	OTTHUMG00000133293	ENST00000304032.8:c.2393G>A	2.37:g.237032585G>A	ENSP00000307634:p.Arg798Gln		AGAP1_ENST00000409538.1_Missense_Mutation_p.R1010Q|AGAP1_ENST00000428334.2_Missense_Mutation_p.R637Q|AGAP1_ENST00000336665.5_Missense_Mutation_p.R745Q	p.R798Q	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN			18	2973	+					B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	ENST00000304032.8	37	c.2393G>A	CCDS33408.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101250	0.37048	4.54E-4	3.49E-4	ENSG00000157985	ENST00000304032;ENST00000336665;ENST00000409538;ENST00000428334	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	4.21	4.21	0.49690	4.21	4.21	0.49690	Ankyrin repeat-containing domain (4);	0.122857	0.51477	D	0.000089	T	0.63105	0.2483	N	0.13235	0.315	0.58432	D	0.999999	D;D	0.89917	0.997;1.0	P;D	0.79784	0.897;0.993	T	0.61073	-0.7136	10	0.19147	T	0.46	.	16.5628	0.84570	0.0:0.0:1.0:0.0	.	745;798	Q9UPQ3-2;Q9UPQ3	.;AGAP1_HUMAN	Q	798;745;1010;637	ENSP00000307634:R798Q;ENSP00000338378:R745Q;ENSP00000386897:R1010Q;ENSP00000411824:R637Q	ENSP00000307634:R798Q	R	+	2	0	0	AGAP1	236697324	236697324	1.000000	0.71417	0.997000	0.53966	0.018000	0.09664	9.570000	0.98174	1.901000	0.55032	0.591000	0.81541	CGA		0.647	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2		33.118749	4	4	51	51	NM_014914		11	33.693275	33.693275	20	0.354839	0	0	0	1	0	11	20	0.354839
HCN4	10021	broad.mit.edu	37	15	73615896	73615896	+	Silent	SNP	C	C	T	rs372747050		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr15:73615896C>T	ENST00000261917.3	-	8	3531	c.2538G>A	c.(2536-2538)ccG>ccA	p.P846P		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	846					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CCACCTGGGACGGGCTGCTGG	0.667																																						ENST00000261917.3											0			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(2536-2538)ccG>ccA	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	C		1,4389	2.1+/-5.4	0,1,2194	52.0	55.0	54.0		2538	-7.2	0.4	15		54	0,8582		0,0,4291	no	coding-synonymous	HCN4	NM_005477.2		0,1,6485	TT,TC,CC		0.0,0.0228,0.0077		846/1204	73615896	1,12971	2195	4291	6486	SO:0001819	synonymous_variant	10021			blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73615896C>T	AJ132429	AJ132429	CCDS10248.1	CCDS10248.1	15q24.1	2011-07-05			2011-07-05			ENSG00000138622	ENSG00000138622	ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	16882	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605206	605206						10228147, 10430953, 16382102	10228147, 10430953, 16382102	Standard	Standard	NM_005477	NM_005477		Approved		uc002avp.3	uc002avp.3	Q9Y3Q4	Q9Y3Q4	OTTHUMG00000137563	OTTHUMG00000137563	ENST00000261917.3:c.2538G>A	15.37:g.73615896C>T				p.P846P	NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	8	3531	-			846		Q9UMQ7	Silent	SNP	ENST00000261917.3	37	c.2538G>A	CCDS10248.1																																																																																									0.667	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2		63.435567	-14	-14	78	78	NM_005477		22	64.176871	64.176871	36	0.379310	0	0	0	1	0	22	36	0.37931
MSRB3	253827	broad.mit.edu	37	12	65857066	65857066	+	Silent	SNP	C	C	T	rs370488628		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:65857066C>T	ENST00000355192.3	+	6	669	c.543C>T	c.(541-543)gtC>gtT	p.V181V	MSRB3_ENST00000535664.1_Silent_p.V174V|MSRB3_ENST00000308259.5_Silent_p.V174V	NM_198080.3	NP_932346.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	181					protein repair (GO:0030091)|response to oxidative stress (GO:0006979)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		GCAGTGGGGTCGCCAGCCCGG	0.502																																						ENST00000308259.5											0			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13						c.(520-522)gtC>gtT	methionine sulfoxide reductase B3						58.0	54.0	55.0					12																	65857066		2203	4300	6503	SO:0001819	synonymous_variant	253827			protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding	g.chr12:65857066C>T	BX640871	BX640871	CCDS8973.1, CCDS31853.1	CCDS8973.1, CCDS31853.1	12q14.3	2011-11-29			2011-11-29			ENSG00000174099	ENSG00000174099	ENSG00000174099	ENSG00000174099				27375	27375	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613719	613719	"""deafness, autosomal recessive 74"""	DFNB74	"""deafness, autosomal recessive 74"""	DFNB74		21185009	21185009	Standard	Standard	NM_198080	NM_198080		Approved	FLJ36866, DKFZp686C1178	uc021qzy.1	uc021qzy.1	Q8IXL7	Q8IXL7	OTTHUMG00000168866	OTTHUMG00000168866	ENST00000355192.3:c.543C>T	12.37:g.65857066C>T			MSRB3_ENST00000355192.3_Silent_p.V181V|MSRB3_ENST00000535664.1_Silent_p.V174V	p.V174V	NM_001031679.2|NM_001193460.1	NP_001026849.1|NP_001180389.1	Q8IXL7	MSRB3_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)	7	796	+			181		B4DR19|B7ZAQ0|Q6UXS2	Silent	SNP	ENST00000355192.3	37	c.522C>T	CCDS8973.1																																																																																									0.502	MSRB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401421.1		7.346651	-29	-29	43	43	NM_198080		7	15.721318	15.721318	52	0.118644	0	0	0	1	0	7	52	0.118644
DPF3	8110	broad.mit.edu	37	14	73137976	73137976	+	Intron	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr14:73137976G>A	ENST00000556509.1	-	8	871				DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000541685.1_Silent_p.F314F|DPF3_ENST00000546183.1_Silent_p.F324F	NM_001280542.1	NP_001267471.1	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3						chromatin modification (GO:0016568)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		ACGTGGAACCGAATAAGTCCT	0.547																																						ENST00000541685.1											0			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22						c.(940-942)ttC>ttT	D4, zinc and double PHD fingers, family 3						84.0	90.0	88.0					14																	73137976		2202	4297	6499	SO:0001627	intron_variant	8110			chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding	g.chr14:73137976G>A	U43919	U43919	CCDS45133.1, CCDS61495.1, CCDS61496.1, CCDS61497.1	CCDS45133.1, CCDS61495.1, CCDS61496.1, CCDS61497.1	14q24.2	2014-05-13			2014-05-13			ENSG00000205683	ENSG00000205683	ENSG00000205683	ENSG00000205683		"""Zinc fingers, PHD-type"""	"""Zinc fingers, PHD-type"""	17427	17427	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601672	601672						11845289, 8812431	11845289, 8812431	Standard	Standard	NM_012074	NM_012074		Approved	cer-d4, Cerd4, FLJ14079, BAF45c	uc010ari.1	uc010ari.1	Q92784	Q92784			ENST00000556509.1:c.871+2971C>T	14.37:g.73137976G>A			DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000556509.1_Intron|DPF3_ENST00000546183.1_Silent_p.F324F	p.F314F	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	9	954	-			142		A8MSI3|B7Z276|F5H575|Q32UJ0|Q6P9E6|Q6ZT41|Q9H7Y5	Silent	SNP	ENST00000556509.1	37	c.942C>T																																																																																										0.547	DPF3-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000413152.2		6.580514	-15	-15	49	49			4	10.256916	10.256916	25	0.137931	0	0	0	1	0	4	25	0.137931
NPAS2	4862	broad.mit.edu	37	2	101541694	101541694	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:101541694C>T	ENST00000335681.5	+	3	404	c.119C>T	c.(118-120)aCg>aTg	p.T40M	NPAS2_ENST00000486017.1_3'UTR|NPAS2_ENST00000542504.1_Missense_Mutation_p.T105M	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	40	Sufficient for heterodimer formation with ARNTL/BMAL1, E-box binding and for the effect of NADPH. {ECO:0000250|UniProtKB:P97460}.|bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCTGGCAACACGCGGAAAATG	0.453																																						ENST00000335681.5											0			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(118-120)aCg>aTg	neuronal PAS domain protein 2						115.0	107.0	110.0					2																	101541694		2203	4300	6503	SO:0001583	missense	4862			central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:101541694C>T	U77970	U77970	CCDS2048.1	CCDS2048.1	2q11.2	2013-05-21			2013-05-21			ENSG00000170485	ENSG00000170485	ENSG00000170485	ENSG00000170485		"""Basic helix-loop-helix proteins"""	"""Basic helix-loop-helix proteins"""	7895	7895	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603347	603347						9012850, 9079689	9012850, 9079689	Standard	Standard	NM_002518	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	uc002tap.1	Q99743	Q99743	OTTHUMG00000130675	OTTHUMG00000130675	ENST00000335681.5:c.119C>T	2.37:g.101541694C>T	ENSP00000338283:p.Thr40Met		NPAS2_ENST00000486017.1_3'UTR|NPAS2_ENST00000542504.1_Missense_Mutation_p.T105M	p.T40M	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN			3	404	+			40	Helix-loop-helix motif.	Q4ZFV9|Q53SQ3|Q86V96|Q99629	Missense_Mutation	SNP	ENST00000335681.5	37	c.119C>T	CCDS2048.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.4|28.4	4.920888|4.920888	0.92249|0.92249	.|.	.|.	ENSG00000170485|ENSG00000170485	ENST00000427413|ENST00000335681;ENST00000542504;ENST00000451740	D|D;D;D	0.98060|0.97924	-4.69|-4.61;-4.61;-4.61	5.65|5.65	4.77|4.77	0.60923|0.60923	5.65|5.65	4.77|4.77	0.60923|0.60923	.|Helix-loop-helix DNA-binding (5);	.|0.109289	.|0.64402	.|N	.|0.000007	D|D	0.97857|0.97857	0.9296|0.9296	L|L	0.46157|0.46157	1.445|1.445	0.54753|0.54753	D|D	0.999984|0.999984	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.75020	.|0.975;0.985	D|D	0.98565|0.98565	1.0643|1.0643	6|10	.|0.66056	.|D	.|0.02	.|.	14.3258|14.3258	0.66518|0.66518	0.0:0.9291:0.0:0.0709|0.0:0.9291:0.0:0.0709	.|.	.|105;40	.|F5H027;Q99743	.|.;NPAS2_HUMAN	C|M	106|40;105;24	ENSP00000397595:R106C|ENSP00000338283:T40M;ENSP00000438428:T105M;ENSP00000395265:T24M	.|ENSP00000338283:T40M	R|T	+|+	1|2	0|0	0|0	NPAS2|NPAS2	100908126|100908126	100908126|100908126	0.997000|0.997000	0.39634|0.39634	0.857000|0.857000	0.33713|0.33713	0.924000|0.924000	0.55760|0.55760	3.680000|3.680000	0.54641|0.54641	1.378000|1.378000	0.46305|0.46305	0.655000|0.655000	0.94253|0.94253	CGC|ACG		0.453	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3		-2.009628	10	10	78	78			3	6.477819	6.477819	41	0.068182	0	0	0	1	0	3	41	0.068182
CSN1S1	1446	broad.mit.edu	37	4	70810661	70810661	+	Missense_Mutation	SNP	G	G	A	rs149927680	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr4:70810661G>A	ENST00000246891.4	+	15	545	c.496G>A	c.(496-498)Gac>Aac	p.D166N	CSN1S1_ENST00000505782.1_Missense_Mutation_p.D150N|CSN1S1_ENST00000507772.1_Missense_Mutation_p.D158N|CSN1S1_ENST00000444405.3_Missense_Mutation_p.D157N|CSN1S1_ENST00000507763.1_Missense_Mutation_p.D157N	NM_001890.1	NP_001881.1	P47710	CASA1_HUMAN	casein alpha s1	166						extracellular region (GO:0005576)|extracellular space (GO:0005615)	transporter activity (GO:0005215)			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						ACCGTTTTCCGACATCTCCAA	0.418																																						ENST00000246891.4											0			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(496-498)Gac>Aac	casein alpha s1						266.0	251.0	256.0					4																	70810661		1919	4131	6050	SO:0001583	missense	0				extracellular region	protein binding|transporter activity	g.chr4:70810661G>A	X78416	X78416	CCDS47067.1, CCDS54769.1	CCDS47067.1, CCDS54769.1	4q21.1	2014-02-19	2003-01-24	2003-01-31	2014-02-19	2003-01-24	2003-01-31	ENSG00000126545	ENSG00000126545	ENSG00000126545	ENSG00000126545				2445	2445	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			115450	115450	"""casein, alpha"""	CASA, CSN1	"""casein, alpha"""	CASA, CSN1		9050925, 7619062	9050925, 7619062	Standard	Standard	NM_001890	NM_001890		Approved		uc003hep.1	uc003hep.1	P47710	P47710	OTTHUMG00000160843	OTTHUMG00000160843	ENST00000246891.4:c.496G>A	4.37:g.70810661G>A	ENSP00000246891:p.Asp166Asn		CSN1S1_ENST00000444405.3_Missense_Mutation_p.D157N|CSN1S1_ENST00000505782.1_Missense_Mutation_p.D150N|CSN1S1_ENST00000507772.1_Missense_Mutation_p.D158N|CSN1S1_ENST00000507763.1_Missense_Mutation_p.D157N	p.D166N	NM_001890.1	NP_001881.1	P47710	CASA1_HUMAN			15	545	+			166		A1A510|A1A511|E9PB60|Q4PNR5	Missense_Mutation	SNP	ENST00000246891.4	37	c.496G>A	CCDS47067.1	.	.	.	.	.	.	.	.	.	.	G	10.02	1.236426	0.22711	.	.	ENSG00000126545	ENST00000246891;ENST00000444405;ENST00000354865;ENST00000507763;ENST00000507772;ENST00000505782;ENST00000510936	T;T;T;T;T;T	0.47869	1.03;1.02;1.02;1.02;1.0;0.83	4.28	-3.58	0.04597	4.28	-3.58	0.04597	.	1.284450	0.05448	N	0.548891	T	0.21962	0.0529	N	0.11927	0.2	0.22926	N	0.998559	P;P;P	0.36125	0.538;0.538;0.538	B;B;B	0.24155	0.051;0.051;0.051	T	0.10451	-1.0629	9	0.37606	T	0.19	-0.132	5.695	0.17851	0.5235:0.2806:0.1959:0.0	.	158;157;166	E9PDQ1;E9PB60;P47710	.;.;CASA1_HUMAN	N	166;157;158;157;158;150;57	ENSP00000246891:D166N;ENSP00000413157:D157N;ENSP00000422611:D157N;ENSP00000427490:D158N;ENSP00000426684:D150N;ENSP00000421314:D57N	ENSP00000246891:D166N	D	+	1	0	0	CSN1S1	70845250	70845250	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.279000	0.08479	-0.873000	0.04032	-0.175000	0.13238	GAC		0.418	CSN1S1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362629.1		55.004985	-18	-18	106	106			22	60.182931	60.182931	67	0.247191	0	0	0	1	0	22	67	0.247191
AGRN	375790	broad.mit.edu	37	1	977395	977395	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:977395C>T	ENST00000379370.2	+	7	1287	c.1237C>T	c.(1237-1239)Cgc>Tgc	p.R413C		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	413	Kazal-like 4. {ECO:0000255|PROSITE- ProRule:PRU00798}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		TGGCCGTCCCCGCTGCTCCTG	0.692																																						ENST00000379370.2											0			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(1237-1239)Cgc>Tgc	agrin						35.0	38.0	37.0					1																	977395		2202	4295	6497	SO:0001583	missense	375790			axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	g.chr1:977395C>T	XM_372195	XM_372195	CCDS30551.1	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	"""Proteoglycans / Extracellular Matrix : Other"""	329	329	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	"""agrin proteoglycan"""	103320	103320						1851019, 12270958	1851019, 12270958	Standard	Standard	NM_198576	NM_198576		Approved	AGRIN	uc001ack.2	uc001ack.2	O00468	O00468	OTTHUMG00000040778	OTTHUMG00000040778	ENST00000379370.2:c.1237C>T	1.37:g.977395C>T	ENSP00000368678:p.Arg413Cys			p.R413C	NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)	7	1287	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	413	Kazal-like 4.	Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	ENST00000379370.2	37	c.1237C>T	CCDS30551.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.231172	0.58777	.	.	ENSG00000188157	ENST00000379370	T	0.31769	1.48	4.89	3.94	0.45596	4.89	3.94	0.45596	.	0.254698	0.32093	N	0.006588	T	0.59046	0.2165	M	0.87547	2.89	0.58432	D	0.999999	D	0.89917	1.0	D	0.71414	0.973	T	0.66440	-0.5923	10	0.59425	D	0.04	-14.3216	14.1156	0.65151	0.1518:0.8482:0.0:0.0	.	413	O00468	AGRIN_HUMAN	C	413	ENSP00000368678:R413C	ENSP00000368678:R413C	R	+	1	0	0	AGRN	967258	967258	0.985000	0.35326	0.796000	0.32109	0.628000	0.37860	4.321000	0.59209	0.972000	0.38314	0.609000	0.83330	CGC		0.692	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2		35.358454	-11	-11	53	53	NM_198576		13	36.858665	36.858665	30	0.302326	0	0	0	1	0	13	30	0.302326
LARP1	23367	broad.mit.edu	37	5	154173236	154173236	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:154173236G>A	ENST00000336314.4	+	5	614	c.590G>A	c.(589-591)cGc>cAc	p.R197H		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	274					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CGCCCCACTCGCCCACCGGAG	0.547																																						ENST00000336314.4											0			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(589-591)cGc>cAc	La ribonucleoprotein domain family, member 1						123.0	135.0	131.0					5																	154173236		2203	4300	6503	SO:0001583	missense	23367					protein binding|RNA binding	g.chr5:154173236G>A	AB018274	AB018274	CCDS4328.1	CCDS4328.1	5q33.2	2014-02-12			2014-02-12			ENSG00000155506	ENSG00000155506	ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	"""La ribonucleoprotein domain containing"""	29531	29531	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612059	612059						9872452, 10878606	9872452, 10878606	Standard	Standard	NM_015315	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	uc003lvo.4	Q6PKG0	Q6PKG0	OTTHUMG00000130191	OTTHUMG00000130191	ENST00000336314.4:c.590G>A	5.37:g.154173236G>A	ENSP00000336721:p.Arg197His			p.R197H	NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		5	614	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	274		O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	ENST00000336314.4	37	c.590G>A	CCDS4328.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538203	0.85917	.	.	ENSG00000155506	ENST00000336314;ENST00000518297;ENST00000519931;ENST00000524248;ENST00000523163	T;T;T;T	0.48836	1.75;1.31;1.36;0.8	5.91	5.91	0.95273	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.54095	0.1837	N	0.12182	0.205	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.78314	0.959;0.991	T	0.57843	-0.7741	10	0.44086	T	0.13	-13.7021	20.2985	0.98592	0.0:0.0:1.0:0.0	.	274;197	Q6PKG0;Q6PKG0-3	LARP1_HUMAN;.	H	197;274;69;69;49	ENSP00000336721:R197H;ENSP00000428589:R274H;ENSP00000429904:R69H;ENSP00000430438:R49H	ENSP00000336721:R197H	R	+	2	0	0	LARP1	154153429	154153429	1.000000	0.71417	0.994000	0.49952	0.591000	0.36615	5.496000	0.66918	2.793000	0.96121	0.655000	0.94253	CGC		0.547	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1		115.087380	-10	-10	136	136	NM_033551		42	115.090602	115.090602	43	0.494118	0	0	0	1	0	42	43	0.494118
TTN	7273	broad.mit.edu	37	2	179431174	179431174	+	Missense_Mutation	SNP	C	C	T	rs538960023		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:179431174C>T	ENST00000591111.1	-	276	74986	c.74762G>A	c.(74761-74763)cGa>cAa	p.R24921Q	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R26562Q|TTN_ENST00000342992.6_Missense_Mutation_p.R23994Q|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R17497Q|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R17689Q|TTN_ENST00000359218.5_Missense_Mutation_p.R17622Q|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24921	Fibronectin type-III 81. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCACAGACTCGTATTTTATA	0.423													C|||	1	0.000199681	0.0	0.0	5008	,	,		20530	0.0		0.0	False		,,,				2504	0.001					ENST00000589042.1											0			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(79684-79686)cGa>cAa	titin						144.0	145.0	144.0					2																	179431174		1921	4121	6042	SO:0001583	missense	7273					ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179431174C>T	X90568	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	12403	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			188840	188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	2129545, 10051295	Standard	Standard	NM_003319	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	uc031rqd.1	Q8WZ42	Q8WZ42	OTTHUMG00000154448	OTTHUMG00000154448	ENST00000591111.1:c.74762G>A	2.37:g.179431174C>T	ENSP00000465570:p.Arg24921Gln		TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R17689Q|TTN_ENST00000359218.5_Missense_Mutation_p.R17622Q|TTN_ENST00000591111.1_Missense_Mutation_p.R24921Q|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R23994Q|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R17497Q|TTN-AS1_ENST00000592600.1_RNA	p.R26562Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	79909	-			24921	Fibronectin type-III 93.	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.79685G>A		.	.	.	.	.	.	.	.	.	.	C	16.82	3.227950	0.58777	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.92	5.92	0.95590	5.92	5.92	0.95590	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71508	0.3348	M	0.74546	2.27	0.51767	D	0.99993	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.72603	-0.4243	9	0.87932	D	0	.	20.3207	0.98668	0.0:1.0:0.0:0.0	.	17497;17622;17689;24921	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	23994;17497;17689;17622;17495	ENSP00000343764:R23994Q;ENSP00000434586:R17497Q;ENSP00000340554:R17689Q;ENSP00000352154:R17622Q	ENSP00000340554:R17689Q	R	-	2	0	0	TTN	179139420	179139420	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.917000	0.56424	2.813000	0.96785	0.561000	0.74099	CGA		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		73.882082	-22	-22	135	135	NM_133378		27	78.81797	78.817970	74	0.267327	0	0	0	1	0	27	74	0.267327
S1PR4	8698	broad.mit.edu	37	19	3179432	3179432	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:3179432C>T	ENST00000246115.3	+	1	697	c.642C>T	c.(640-642)ggC>ggT	p.G214G	S1PR4_ENST00000591346.1_3'UTR	NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	214					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						TCTTCGCCGGCGTCCTGGCCA	0.682																																					GBM(82;318 1638 33279 49708)	ENST00000246115.3											0			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						c.(640-642)ggC>ggT	sphingosine-1-phosphate receptor 4						118.0	124.0	122.0					19																	3179432		2203	4300	6503	SO:0001819	synonymous_variant	8698			activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:3179432C>T	AJ000479	AJ000479	CCDS12105.1	CCDS12105.1	19p13.3	2012-08-08	2008-04-30	2008-04-30	2012-08-08	2008-04-30	2008-04-30		ENSG00000125910		ENSG00000125910		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3170	3170	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603751	603751	"""endothelial differentiation, G-protein-coupled receptor 6"", ""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 6"""	EDG6	"""endothelial differentiation, G-protein-coupled receptor 6"", ""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 6"""	EDG6		9790765	9790765	Standard	Standard	NM_003775	NM_003775		Approved		uc002lxg.3	uc002lxg.3	O95977	O95977			ENST00000246115.3:c.642C>T	19.37:g.3179432C>T			S1PR4_ENST00000591346.1_3'UTR	p.G214G	NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN			1	697	+			214		D6W612	Silent	SNP	ENST00000246115.3	37	c.642C>T	CCDS12105.1																																																																																									0.682	S1PR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452517.1		109.682530	-17	-17	224	224	NM_003775		42	117.344314	117.344314	115	0.267516	0	0	0	1	0	42	115	0.267516
PTPN21	11099	broad.mit.edu	37	14	88945353	88945353	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr14:88945353G>A	ENST00000556564.1	-	13	2706	c.2422C>T	c.(2422-2424)Cga>Tga	p.R808*	PTPN21_ENST00000328736.3_Nonsense_Mutation_p.R808*	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	808					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTCCGGGCTCGGTAGCGGCCT	0.662																																						ENST00000556564.1											0			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2422-2424)Cga>Tga	protein tyrosine phosphatase, non-receptor type 21						45.0	50.0	49.0					14																	88945353		2203	4300	6503	SO:0001587	stop_gained	11099				cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88945353G>A	X79510	X79510	CCDS9884.1	CCDS9884.1	14q31	2011-06-09			2011-06-09				ENSG00000070778		ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	9651	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603271	603271						7519780	7519780	Standard	Standard	NM_007039	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	uc001xwv.4	Q16825	Q16825			ENST00000556564.1:c.2422C>T	14.37:g.88945353G>A	ENSP00000452414:p.Arg808*		PTPN21_ENST00000328736.3_Nonsense_Mutation_p.R808*	p.R808*	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN			13	2706	-			808			Nonsense_Mutation	SNP	ENST00000556564.1	37	c.2422C>T	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	G	38	7.146204	0.98096	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	.	.	.	5.55	4.59	0.56863	5.55	4.59	0.56863	.	0.240363	0.41500	D	0.000872	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.0944	0.48134	0.0:0.0:0.591:0.409	.	.	.	.	X	808	.	ENSP00000330276:R808X	R	-	1	2	2	PTPN21	88015106	88015106	1.000000	0.71417	0.989000	0.46669	0.053000	0.15095	5.038000	0.64177	2.612000	0.88384	0.655000	0.94253	CGA		0.662	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1		11.725805	-12	-12	71	71			6	16.192613	16.192613	33	0.153846	0	0	0	1	0	6	33	0.153846
NYX	60506	broad.mit.edu	37	X	41333540	41333540	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:41333540C>T	ENST00000342595.2	+	2	1290	c.834C>T	c.(832-834)gcC>gcT	p.A278A	NYX_ENST00000378220.1_Silent_p.A278A	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN	nyctalopin	278					response to stimulus (GO:0050896)|visual perception (GO:0007601)	intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						CTGACCTGGCCGAGCTCGAGC	0.711																																						ENST00000342595.2											0			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						c.(832-834)gcC>gcT	nyctalopin						22.0	22.0	22.0					X																	41333540		2200	4293	6493	SO:0001819	synonymous_variant	60506			response to stimulus|visual perception	intracellular|proteinaceous extracellular matrix		g.chrX:41333540C>T	AF254868	AF254868	CCDS14256.1	CCDS14256.1	Xp11.4	2014-01-28			2014-01-28			ENSG00000188937	ENSG00000188937	ENSG00000188937	ENSG00000188937				8082	8082	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300278	300278		CSNB1, CSNB4		CSNB1, CSNB4		11062471, 11062472	11062471, 11062472	Standard	Standard	NM_022567	NM_022567		Approved	CLRP, CSNB1A	uc004dfh.2	uc004dfh.2	Q9GZU5	Q9GZU5	OTTHUMG00000021370	OTTHUMG00000021370	ENST00000342595.2:c.834C>T	X.37:g.41333540C>T			NYX_ENST00000378220.1_Silent_p.A278A	p.A278A	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN			2	1290	+			278		D3DWC0|Q2M1S4|Q5H983|Q9H4J0	Silent	SNP	ENST00000342595.2	37	c.834C>T	CCDS14256.1																																																																																									0.711	NYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056256.1		18.617040	-11	-11	24	24	NM_022567		7	19.703308	19.703308	18	0.280000	0	0	0	1	0	7	18	0.28
GRIK3	2899	broad.mit.edu	37	1	37307503	37307503	+	Missense_Mutation	SNP	G	G	A	rs376333303		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:37307503G>A	ENST00000373091.3	-	10	1380	c.1364C>T	c.(1363-1365)aCg>aTg	p.T455M	GRIK3_ENST00000373093.4_Missense_Mutation_p.T455M	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	455					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)	p.T455M(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				CCCGTATAGCGTCCTGTCTGA	0.577																																						ENST00000373091.3											1	Substitution - Missense(1)	large_intestine(1)	breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89						c.(1363-1365)aCg>aTg	glutamate receptor, ionotropic, kainate 3	G	MET/THR	0,4406		0,0,2203	171.0	157.0	162.0		1364	4.9	0.9	1		162	1,8599	1.2+/-3.3	0,1,4299	no	missense	GRIK3	NM_000831.3	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	455/920	37307503	1,13005	2203	4300	6503	SO:0001583	missense	2899			negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37307503G>A	U16127	U16127	CCDS416.1	CCDS416.1	1p34.3	2012-08-29			2012-08-29			ENSG00000163873	ENSG00000163873	ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	4581	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			138243	138243						8128318	8128318	Standard	Standard	NM_000831	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	uc001caz.2	Q13003	Q13003	OTTHUMG00000004189	OTTHUMG00000004189	ENST00000373091.3:c.1364C>T	1.37:g.37307503G>A	ENSP00000362183:p.Thr455Met		GRIK3_ENST00000373093.4_Missense_Mutation_p.T455M	p.T455M	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN			10	1380	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	455		A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.1364C>T	CCDS416.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.014316	0.35511	0.0	1.16E-4	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.77750	-1.12;-1.12	4.95	4.95	0.65309	4.95	4.95	0.65309	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.060705	0.64402	D	0.000003	T	0.73729	0.3624	L	0.28054	0.825	0.36253	D	0.854055	P;P	0.40970	0.734;0.734	P;P	0.49665	0.618;0.492	T	0.76152	-0.3064	10	0.29301	T	0.29	.	12.9613	0.58460	0.0783:0.0:0.9217:0.0	.	455;455	A9Z1Z8;Q13003	.;GRIK3_HUMAN	M	455	ENSP00000362183:T455M;ENSP00000362185:T455M	ENSP00000362183:T455M	T	-	2	0	0	GRIK3	37080090	37080090	1.000000	0.71417	0.924000	0.36721	0.340000	0.28889	6.789000	0.75110	2.446000	0.82766	0.655000	0.94253	ACG		0.577	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1		135.626158	-7	-7	112	112	NM_000831		43	135.628586	135.628586	44	0.494253	0	0	0	1	0	43	44	0.494253
PVRIG	79037	broad.mit.edu	37	7	99817744	99817744	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:99817744G>A	ENST00000317271.2	+	3	489	c.126G>A	c.(124-126)ccG>ccA	p.P42P	AC005071.1_ENST00000410550.1_RNA|GATS_ENST00000436886.2_Intron|GATS_ENST00000543273.1_RNA	NM_024070.3	NP_076975.2	Q6DKI7	PVRIG_HUMAN	poliovirus receptor related immunoglobulin domain containing	42						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)	11	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAGGGACCCCGGAGGTGTGGG	0.637																																						ENST00000317271.2											0			breast(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)	11						c.(124-126)ccG>ccA	poliovirus receptor related immunoglobulin domain containing						24.0	27.0	26.0					7																	99817744		2203	4300	6503	SO:0001819	synonymous_variant	79037				integral to membrane		g.chr7:99817744G>A	BC001129	BC001129	CCDS5690.1	CCDS5690.1	7q22.1	2013-06-26			2013-06-26			ENSG00000213413	ENSG00000213413	ENSG00000213413	ENSG00000213413				32190	32190	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										16926269	16926269	Standard	Standard	NM_024070	NM_024070		Approved	MGC2463, C7orf15	uc003uuf.1	uc003uuf.1	Q6DKI7	Q6DKI7	OTTHUMG00000156798	OTTHUMG00000156798	ENST00000317271.2:c.126G>A	7.37:g.99817744G>A			GATS_ENST00000436886.2_Intron|GATS_ENST00000543273.1_RNA	p.P42P	NM_024070.3	NP_076975.2	Q6DKI7	PVRIG_HUMAN			3	489	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		42		D6W5U9|Q9BVK3	Silent	SNP	ENST00000317271.2	37	c.126G>A	CCDS5690.1																																																																																									0.637	PVRIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345870.2		16.476832	-8	-8	8	8	NM_024070		5	16.586576	16.586576	3	0.625000	0	0	0	1	0	5	3	0.625
IVD	3712	broad.mit.edu	37	15	40702919	40702919	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr15:40702919G>A	ENST00000249760.2	+	4	722	c.379G>A	c.(379-381)Ggt>Agt	p.G127S	IVD_ENST00000479013.2_Missense_Mutation_p.G100S|IVD_ENST00000487418.2_Missense_Mutation_p.G130S|IVD_ENST00000490194.1_3'UTR	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	127					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	flavin adenine dinucleotide binding (GO:0050660)|isovaleryl-CoA dehydrogenase activity (GO:0008470)			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)	Flavin adenine dinucleotide(DB03147)	GCTCAGTTACGGTGCCCACTC	0.547																																					GBM(31;293 617 7486 32527 34655)	ENST00000249760.2											0			kidney(1)|lung(5)|ovary(2)|prostate(1)	9						c.(379-381)Ggt>Agt	isovaleryl-CoA dehydrogenase						80.0	67.0	71.0					15																	40702919		2203	4300	6503	SO:0001583	missense	3712			leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity	g.chr15:40702919G>A	AF038317	AF038317	CCDS10057.1, CCDS10057.2, CCDS53930.1	CCDS10057.1, CCDS10057.2, CCDS53930.1	15q14-q15	2010-05-11	2010-05-11		2010-05-11	2010-05-11		ENSG00000128928	ENSG00000128928	ENSG00000128928	ENSG00000128928	1.3.99.10			6186	6186	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607036	607036	"""isovaleryl Coenzyme A dehydrogenase"", ""isovaleryl CoA dehydrogenase"""		"""isovaleryl Coenzyme A dehydrogenase"", ""isovaleryl CoA dehydrogenase"""			2063866	2063866	Standard	Standard	NM_002225	NM_002225		Approved	ACAD2	uc001zls.3	uc001zls.3	P26440	P26440	OTTHUMG00000129984	OTTHUMG00000129984	ENST00000249760.2:c.379G>A	15.37:g.40702919G>A	ENSP00000249760:p.Gly127Ser		IVD_ENST00000479013.2_Missense_Mutation_p.G100S|IVD_ENST00000490194.1_3'UTR|IVD_ENST00000487418.2_Missense_Mutation_p.G130S	p.G127S	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)	4	722	+		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	127		B2RCV5|B3KVI7|J3KR54|Q53XZ9|Q96AF6	Missense_Mutation	SNP	ENST00000249760.2	37	c.379G>A		.	.	.	.	.	.	.	.	.	.	G	34	5.389874	0.95988	.	.	ENSG00000128928	ENST00000249760;ENST00000479013;ENST00000487418	D;D;D	0.99704	-6.46;-6.46;-6.46	5.17	5.17	0.71159	5.17	5.17	0.71159	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.045090	0.85682	D	0.000000	D	0.99462	0.9809	L	0.41573	1.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.988	D	0.98808	1.0742	10	0.52906	T	0.07	.	18.8538	0.92242	0.0:0.0:1.0:0.0	.	127;100	P26440;B3KVI7	IVD_HUMAN;.	S	127;100;130	ENSP00000249760:G127S;ENSP00000417990:G100S;ENSP00000418397:G130S	ENSP00000249760:G127S	G	+	1	0	0	IVD	38490211	38490211	1.000000	0.71417	0.253000	0.24343	0.909000	0.53808	9.623000	0.98386	2.691000	0.91804	0.655000	0.94253	GGT		0.547	IVD-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			37.798110	-2	-2	50	50			12	37.831503	37.831503	14	0.461538	0	0	0	1	0	12	14	0.461538
AP3B2	8120	broad.mit.edu	37	15	83346476	83346476	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr15:83346476C>T	ENST00000261722.3	-	12	1532	c.1325G>A	c.(1324-1326)cGa>cAa	p.R442Q	AP3B2_ENST00000535348.1_Missense_Mutation_p.R410Q|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Missense_Mutation_p.R442Q	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	442					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GTCACGGACTCGGCCGATGTT	0.532																																						ENST00000261722.3											0			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41						c.(1324-1326)cGa>cAa	adaptor-related protein complex 3, beta 2 subunit						49.0	50.0	50.0					15																	83346476		2148	4259	6407	SO:0001583	missense	8120			endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	g.chr15:83346476C>T	U37673	U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			2008-07-07			ENSG00000103723	ENSG00000103723	ENSG00000103723	ENSG00000103723				567	567	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602166	602166						7671305, 1851215	7671305, 1851215	Standard	Standard	NM_004644	NM_004644		Approved	NAPTB	uc010uoh.2	uc010uoh.2	Q13367	Q13367	OTTHUMG00000168009	OTTHUMG00000168009	ENST00000261722.3:c.1325G>A	15.37:g.83346476C>T	ENSP00000261722:p.Arg442Gln		AP3B2_ENST00000535359.1_Missense_Mutation_p.R442Q|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Missense_Mutation_p.R410Q	p.R442Q	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		12	1532	-			442		A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Missense_Mutation	SNP	ENST00000261722.3	37	c.1325G>A	CCDS45331.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.351296	0.61183	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359	T;T;T	0.12255	2.7;2.7;2.7	4.98	4.05	0.47172	4.98	4.05	0.47172	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.125658	0.51477	D	0.000082	T	0.04003	0.0112	N	0.02685	-0.53	0.80722	D	1	B;B;B	0.32507	0.373;0.064;0.032	B;B;B	0.23150	0.044;0.009;0.009	T	0.42464	-0.9450	10	0.33141	T	0.24	-4.6877	3.3267	0.07070	0.2273:0.5763:0.0:0.1964	.	410;442;442	B7ZKR7;B7ZKS0;Q13367	.;.;AP3B2_HUMAN	Q	442;410;442	ENSP00000261722:R442Q;ENSP00000438721:R410Q;ENSP00000440984:R442Q	ENSP00000261722:R442Q	R	-	2	0	0	AP3B2	81143531	81143531	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.969000	0.70422	1.298000	0.44778	0.655000	0.94253	CGA		0.532	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1		40.606596	-7	-7	10	10			12	41.25145	41.251450	5	0.705882	0	0	0	1	0	12	5	0.705882
SMARCAD1	56916	broad.mit.edu	37	4	95198183	95198183	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr4:95198183G>A	ENST00000354268.4	+	16	2028	c.1955G>A	c.(1954-1956)cGt>cAt	p.R652H	SMARCAD1_ENST00000509418.1_Missense_Mutation_p.R222H|SMARCAD1_ENST00000457823.2_Missense_Mutation_p.R652H			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	652	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.R652L(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		GCAAATAACCGTTTGCTGCTC	0.413																																						ENST00000354268.4											1	Substitution - Missense(1)	endometrium(1)	breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1954-1956)cGt>cAt	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1						146.0	139.0	141.0					4																	95198183		2203	4300	6503	SO:0001583	missense	56916			chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	g.chr4:95198183G>A	AB032948	AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			2008-02-05			ENSG00000163104	ENSG00000163104	ENSG00000163104	ENSG00000163104				18398	18398	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612761	612761						11031099	11031099	Standard	Standard	NM_001128430	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	uc003htb.4	Q9H4L7	Q9H4L7	OTTHUMG00000130971	OTTHUMG00000130971	ENST00000354268.4:c.1955G>A	4.37:g.95198183G>A	ENSP00000346217:p.Arg652His		SMARCAD1_ENST00000509418.1_Missense_Mutation_p.R222H|SMARCAD1_ENST00000457823.2_Missense_Mutation_p.R652H	p.R652H			Q9H4L7	SMRCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)	16	2028	+			652	Helicase ATP-binding.	B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Missense_Mutation	SNP	ENST00000354268.4	37	c.1955G>A	CCDS3639.1	.	.	.	.	.	.	.	.	.	.	G	33	5.247895	0.95305	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000354268;ENST00000509418	D;D;D;D	0.95588	-3.75;-3.75;-3.75;-3.75	5.24	5.24	0.73138	5.24	5.24	0.73138	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.47455	D	0.000223	D	0.98406	0.9470	H	0.94264	3.515	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.71414	0.973;0.954	D	0.99581	1.0973	10	0.87932	D	0	-10.8601	18.8643	0.92285	0.0:0.0:1.0:0.0	.	652;652	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	H	652;652;652;222	ENSP00000351947:R652H;ENSP00000415576:R652H;ENSP00000346217:R652H;ENSP00000423286:R222H	ENSP00000346217:R652H	R	+	2	0	0	SMARCAD1	95417206	95417206	1.000000	0.71417	0.985000	0.45067	0.942000	0.58702	9.333000	0.96459	2.463000	0.83235	0.555000	0.69702	CGT		0.413	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1		-9.103287	-29	-29	83	83	NM_020159		5	10.983255	10.983255	90	0.052632	0	0	0	1	0	5	90	0.052632
MUC2	4583	broad.mit.edu	37	11	1095811	1095811	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:1095811G>A	ENST00000441003.2	+	33	6349	c.6322G>A	c.(6322-6324)Ggc>Agc	p.G2108S	MUC2_ENST00000361558.6_Missense_Mutation_p.G246S|MUC2_ENST00000333592.6_3'UTR	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4470					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GGACCCCGACGGCTGCTGCTG	0.701																																						ENST00000441003.2											0			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(6322-6324)Ggc>Agc	mucin 2, oligomeric mucus/gel-forming						26.0	35.0	32.0					11																	1095811		2130	4229	6359	SO:0001583	missense	4583				inner mucus layer|outer mucus layer	protein binding	g.chr11:1095811G>A	L21998	L21998			11p15.5	2011-01-28	2006-03-14		2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788	ENSG00000198788	ENSG00000198788		"""Mucins"""	"""Mucins"""	7512	7512	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			158370	158370	"""mucin 2, intestinal/tracheal"""		"""mucin 2, intestinal/tracheal"""			15081123	15081123	Standard	Standard	NM_002457	NM_002457		Approved		uc001lsx.1	uc001lsx.1	Q02817	Q02817	OTTHUMG00000156800	OTTHUMG00000156800	ENST00000441003.2:c.6322G>A	11.37:g.1095811G>A	ENSP00000415183:p.Gly2108Ser		MUC2_ENST00000333592.6_3'UTR|MUC2_ENST00000361558.6_Missense_Mutation_p.G246S	p.G2108S	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	33	6349	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	4470		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.6322G>A		.	.	.	.	.	.	.	.	.	.	G	5.123	0.208280	0.09757	.	.	ENSG00000198788	ENST00000441003;ENST00000361558	T;T	0.31769	2.54;1.48	3.62	-1.48	0.08745	3.62	-1.48	0.08745	.	.	.	.	.	T	0.18841	0.0452	L	0.35542	1.07	0.09310	N	1	D	0.59357	0.985	B	0.40602	0.334	T	0.24154	-1.0168	9	0.29301	T	0.29	.	8.196	0.31396	0.1804:0.3911:0.4285:0.0	.	2108	E7EUV1	.	S	2108;246	ENSP00000415183:G2108S;ENSP00000354885:G246S	ENSP00000354885:G246S	G	+	1	0	0	MUC2	1085811	1085811	0.003000	0.15002	0.017000	0.16124	0.165000	0.22458	0.514000	0.22786	-0.050000	0.13356	0.491000	0.48974	GGC		0.701	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2		5.714073	-5	-5	17	17	NM_002457		3	7.833363	7.833363	16	0.157895	0	0	0	1	0	3	16	0.157895
FBXW7	55294	broad.mit.edu	37	4	153247366	153247366	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr4:153247366C>T	ENST00000281708.4	-	10	2665	c.1436G>A	c.(1435-1437)cGa>cAa	p.R479Q	FBXW7_ENST00000263981.5_Missense_Mutation_p.R399Q|FBXW7_ENST00000393956.3_Missense_Mutation_p.R303Q|FBXW7_ENST00000603548.1_Missense_Mutation_p.R479Q|FBXW7_ENST00000603841.1_Missense_Mutation_p.R479Q|FBXW7_ENST00000296555.5_Missense_Mutation_p.R361Q	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	479					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R479Q(29)|p.R479L(5)|p.R399Q(3)|p.R479P(2)|p.R240L(1)|p.R361P(1)|p.R399P(1)|p.?(1)|p.R361Q(1)|p.R399L(1)|p.R240Q(1)|p.R240P(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AGTGGCATCTCGAGAACCGCT	0.403			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4		Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	47	Substitution - Missense(46)|Unknown(1)	haematopoietic_and_lymphoid_tissue(16)|large_intestine(9)|endometrium(7)|urinary_tract(5)|upper_aerodigestive_tract(4)|lung(4)|stomach(1)|kidney(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1435-1437)cGa>cAa	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase						85.0	80.0	82.0					4																	153247366		2203	4299	6502	SO:0001583	missense	0			interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153247366C>T	AF411971	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23		2013-01-09	2012-02-23							"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	16712	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	"""archipelago homolog (Drosophila)"""	606278	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""		"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	10531037, 11425854	Standard	Standard	NM_018315	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	uc003ims.3	Q969H0	Q969H0			ENST00000281708.4:c.1436G>A	4.37:g.153247366C>T	ENSP00000281708:p.Arg479Gln		FBXW7_ENST00000603841.1_Missense_Mutation_p.R479Q|FBXW7_ENST00000603548.1_Missense_Mutation_p.R479Q|FBXW7_ENST00000296555.5_Missense_Mutation_p.R361Q|FBXW7_ENST00000393956.3_Missense_Mutation_p.R303Q|FBXW7_ENST00000263981.5_Missense_Mutation_p.R399Q	p.R479Q	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			10	2665	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	479		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1436G>A	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	C	33	5.283775	0.95489	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.72	5.72	0.89469	5.72	5.72	0.89469	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.50222	0.1603	N	0.12527	0.23	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.56529	-0.7964	10	0.56958	D	0.05	-12.7081	20.2406	0.98372	0.0:1.0:0.0:0.0	.	303;479;361;399	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	Q	479;361;399;303	ENSP00000281708:R479Q;ENSP00000296555:R361Q;ENSP00000263981:R399Q;ENSP00000377528:R303Q	ENSP00000263981:R399Q	R	-	2	0	0	FBXW7	153466816	153466816	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.715000	0.84713	2.857000	0.98124	0.650000	0.86243	CGA		0.403	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1		12.728966	-4	-4	54	54			6	16.300053	16.300053	29	0.171429	0	0	0	1	0	6	29	0.171429
WDR25	79446	broad.mit.edu	37	14	100992227	100992227	+	Silent	SNP	G	G	A	rs143825676		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr14:100992227G>A	ENST00000335290.6	+	5	1348	c.1122G>A	c.(1120-1122)gcG>gcA	p.A374A	WDR25_ENST00000402312.3_Silent_p.A374A|WDR25_ENST00000554998.1_Silent_p.A374A|WDR25_ENST00000542471.2_Silent_p.A117A|WDR25_ENST00000557502.1_3'UTR	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	374										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				GCTACAAGGCGACCATCCAGC	0.622													g|||	1	0.000199681	0.0	0.0	5008	,	,		18041	0.0		0.001	False		,,,				2504	0.0					ENST00000335290.6											0			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20						c.(1120-1122)gcG>gcA	WD repeat domain 25		,	1,4405	2.1+/-5.4	0,1,2202	92.0	75.0	81.0		1122,1122	-9.8	0.2	14	dbSNP_134	81	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	WDR25	NM_001161476.1,NM_024515.4	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	374/545,374/545	100992227	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	79446						g.chr14:100992227G>A	BC007953	BC007953	CCDS32157.1	CCDS32157.1	14q32.32	2013-01-09			2013-01-09				ENSG00000176473		ENSG00000176473		"""WD repeat domain containing"""	"""WD repeat domain containing"""	21064	21064	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""chromosome 14 open reading frame 67"""	C14orf67	"""chromosome 14 open reading frame 67"""	C14orf67		15587985	15587985	Standard	Standard	NM_001161476	NM_001161476		Approved	MGC4645	uc001yhn.3	uc001yhn.3	Q64LD2	Q64LD2			ENST00000335290.6:c.1122G>A	14.37:g.100992227G>A			WDR25_ENST00000554998.1_Silent_p.A374A|WDR25_ENST00000557502.1_3'UTR|WDR25_ENST00000402312.3_Silent_p.A374A|WDR25_ENST00000542471.2_Silent_p.A117A	p.A374A	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN			5	1348	+		Melanoma(154;0.212)	374		A8K7E5|Q6NVV6|Q86TQ4|Q9BTK5	Silent	SNP	ENST00000335290.6	37	c.1122G>A	CCDS32157.1																																																																																									0.622	WDR25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414312.1		7.483996	-11	-11	57	57	NM_024515		4	10.235947	10.235947	21	0.160000	0	0	0	1	0	4	21	0.16
C4orf32	132720	broad.mit.edu	37	4	113107979	113107979	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr4:113107979G>A	ENST00000309733.5	+	2	468	c.284G>A	c.(283-285)cGa>cAa	p.R95Q		NM_152400.2	NP_689613.1	Q8N8J7	CD032_HUMAN	chromosome 4 open reading frame 32	95						integral component of membrane (GO:0016021)							Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00198)		TTTGGAGAACGAATAGTGGAA	0.413																																						ENST00000309733.5											0										c.(283-285)cGa>cAa	chromosome 4 open reading frame 32						246.0	233.0	237.0					4																	113107979		2203	4300	6503	SO:0001583	missense	132720				integral to membrane		g.chr4:113107979G>A	AK096689	AK096689	CCDS3695.1	CCDS3695.1	4q25	2008-02-05			2008-02-05			ENSG00000174749	ENSG00000174749	ENSG00000174749	ENSG00000174749				26813	26813	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12477932	12477932	Standard	Standard	NM_152400	NM_152400		Approved	FLJ39370	uc003iah.2	uc003iah.2	Q8N8J7	Q8N8J7	OTTHUMG00000132851	OTTHUMG00000132851	ENST00000309733.5:c.284G>A	4.37:g.113107979G>A	ENSP00000310182:p.Arg95Gln			p.R95Q	NM_152400.2	NP_689613.1	Q8N8J7	CD032_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00198)	2	468	+		Ovarian(17;0.156)			Q49A91|Q4W5C7|Q8TBF9	Missense_Mutation	SNP	ENST00000309733.5	37	c.284G>A	CCDS3695.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.501929	0.44455	.	.	ENSG00000174749	ENST00000309733	T	0.48522	0.81	5.71	3.92	0.45320	5.71	3.92	0.45320	.	0.345720	0.31589	N	0.007398	T	0.29491	0.0735	N	0.22421	0.69	0.43137	D	0.994883	B	0.26258	0.145	B	0.17722	0.019	T	0.06058	-1.0848	10	0.20046	T	0.44	-2.9118	9.6288	0.39768	0.0751:0.0:0.7831:0.1418	.	95	Q8N8J7	CD032_HUMAN	Q	95	ENSP00000310182:R95Q	ENSP00000310182:R95Q	R	+	2	0	0	C4orf32	113327428	113327428	1.000000	0.71417	0.991000	0.47740	0.988000	0.76386	3.202000	0.51067	0.698000	0.31739	0.585000	0.79938	CGA		0.413	C4orf32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256325.2		58.067861	-18	-18	178	178	NM_152400		26	70.817709	70.817709	113	0.187050	0	0	0	1	0	26	113	0.18705
OXLD1	339229	broad.mit.edu	37	17	79632514	79632514	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:79632514C>T	ENST00000374741.3	-	2	171	c.161G>A	c.(160-162)cGc>cAc	p.R54H	PDE6G_ENST00000574777.1_5'Flank|PDE6G_ENST00000571224.1_5'Flank|OXLD1_ENST00000571503.1_3'UTR|OXLD1_ENST00000573786.1_5'UTR|CCDC137_ENST00000329214.8_5'Flank	NM_001039842.1	NP_001034931.1	Q5BKU9	OXLD1_HUMAN	oxidoreductase-like domain containing 1	54						mitochondrion (GO:0005739)											GAATTTTCTGCGCCCATCAGG	0.672																																						ENST00000374741.3											0										c.(160-162)cGc>cAc	oxidoreductase-like domain containing 1						37.0	40.0	39.0					17																	79632514		2203	4298	6501	SO:0001583	missense	339229						g.chr17:79632514C>T			CCDS32766.1	CCDS32766.1	17q25.3	2012-07-20	2012-07-20	2012-07-20	2012-07-20	2012-07-20	2012-07-20	ENSG00000204237	ENSG00000204237	ENSG00000204237	ENSG00000204237				27901	27901	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""chromosome 17 open reading frame 90"""	C17orf90	"""chromosome 17 open reading frame 90"""	C17orf90				Standard	Standard	NM_001039842	NM_001039842		Approved	MGC104712	uc002kba.3	uc002kba.3	Q5BKU9	Q5BKU9	OTTHUMG00000178063	OTTHUMG00000178063	ENST00000374741.3:c.161G>A	17.37:g.79632514C>T	ENSP00000363873:p.Arg54His		OXLD1_ENST00000571503.1_3'UTR|OXLD1_ENST00000573786.1_5'UTR	p.R54H	NM_001039842.1	NP_001034931.1					2	171	-					A6ND24	Missense_Mutation	SNP	ENST00000374741.3	37	c.161G>A	CCDS32766.1	.	.	.	.	.	.	.	.	.	.	C	8.849	0.944049	0.18281	.	.	ENSG00000204237	ENST00000374741	.	.	.	3.82	-7.49	0.01355	3.82	-7.49	0.01355	.	1.052130	0.07613	N	0.925722	T	0.17323	0.0416	N	0.05124	-0.11	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32348	-0.9910	9	0.17832	T	0.49	-2.5493	9.9797	0.41806	0.1064:0.6937:0.0:0.2	.	54	Q5BKU9	CQ090_HUMAN	H	54	.	ENSP00000363873:R54H	R	-	2	0	0	C17orf90	77242919	77242919	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.118000	0.00596	-1.833000	0.01195	-0.137000	0.14449	CGC		0.672	OXLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440380.1		4.774666	-1	-1	68	68	NM_001039842		4	10.156218	10.156218	32	0.111111	0	0	0	1	0	4	32	0.111111
MAN1A1	4121	broad.mit.edu	37	6	119509576	119509576	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:119509576G>A	ENST00000368468.3	-	11	2154	c.1713C>T	c.(1711-1713)gcC>gcT	p.A571A		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	571					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		TCACCTCTACGGCTTCCCAGG	0.348																																					Ovarian(136;8 1825 12608 33541 47587)	ENST00000368468.3											0			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24						c.(1711-1713)gcC>gcT	mannosidase, alpha, class 1A, member 1						133.0	134.0	133.0					6																	119509576		2203	4300	6503	SO:0001819	synonymous_variant	4121			post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr6:119509576G>A	AK025599	AK025599	CCDS5122.1	CCDS5122.1	6q22	2008-08-29			2008-08-29			ENSG00000111885	ENSG00000111885	ENSG00000111885	ENSG00000111885	3.2.1.113			6821	6821	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604344	604344						8223597	8223597	Standard	Standard	NM_005907	NM_005907		Approved		uc003pym.2	uc003pym.2	P33908	P33908	OTTHUMG00000015472	OTTHUMG00000015472	ENST00000368468.3:c.1713C>T	6.37:g.119509576G>A				p.A571A	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)	11	2154	-		all_epithelial(87;0.173)	571		E7EU32|Q6P052|Q9NU44|Q9UJI3	Silent	SNP	ENST00000368468.3	37	c.1713C>T	CCDS5122.1																																																																																									0.348	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042015.1		20.744504	2	2	104	104	NM_005907		12	31.535716	31.535716	74	0.139535	0	0	0	1	0	12	74	0.139535
FBXO46	23403	broad.mit.edu	37	19	46216077	46216077	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:46216077C>T	ENST00000317683.3	-	2	810	c.677G>A	c.(676-678)cGt>cAt	p.R226H		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	226										breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		CTCGGCTACACGGCTGCAGTC	0.701																																						ENST00000317683.3											0			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15						c.(676-678)cGt>cAt	F-box protein 46						20.0	24.0	23.0					19																	46216077		2015	4146	6161	SO:0001583	missense	23403					protein binding	g.chr19:46216077C>T	BC021978	BC021978	CCDS46116.1	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		ENSG00000177051		"""F-boxes /  ""other"""""	"""F-boxes /  ""other"""""	25069	25069	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609117	609117	"""F-box only protein 34-like"""	FBXO34L	"""F-box only protein 34-like"""	FBXO34L		9585442	9585442	Standard	Standard	NM_001080469	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	uc002pcz.3	Q6PJ61	Q6PJ61			ENST00000317683.3:c.677G>A	19.37:g.46216077C>T	ENSP00000410007:p.Arg226His			p.R226H	NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)	2	810	-		Ovarian(192;0.179)|all_neural(266;0.224)	226			Missense_Mutation	SNP	ENST00000317683.3	37	c.677G>A	CCDS46116.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.292612	0.40594	.	.	ENSG00000177051	ENST00000317683	.	.	.	4.89	3.86	0.44501	4.89	3.86	0.44501	.	.	.	.	.	T	0.44265	0.1285	L	0.46157	1.445	0.34418	D	0.697129	B	0.29232	0.238	B	0.22601	0.04	T	0.57323	-0.7831	8	0.72032	D	0.01	-5.7976	10.954	0.47347	0.0:0.9082:0.0:0.0918	.	226	Q6PJ61	FBX46_HUMAN	H	226	.	ENSP00000410007:R226H	R	-	2	0	0	FBXO46	50907917	50907917	0.978000	0.34361	0.810000	0.32431	0.142000	0.21351	3.564000	0.53791	1.077000	0.40990	-0.251000	0.11542	CGT		0.701	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459661.1		7.851637	-25	-25	23	23	XM_371179		5	12.153725	12.153725	30	0.142857	0	0	0	1	0	5	30	0.142857
SLCO2B1	11309	broad.mit.edu	37	11	74907638	74907638	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:74907638G>A	ENST00000289575.5	+	10	1908	c.1513G>A	c.(1513-1515)Gac>Aac	p.D505N	SLCO2B1_ENST00000428359.2_Missense_Mutation_p.D483N|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.D389N|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.D278N|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.D361N|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.D278N|SLCO2B1_ENST00000531756.1_Missense_Mutation_p.D250N	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	505	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	CCCTGTCTGCGACCCCAGCAC	0.617																																						ENST00000289575.5											0			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39						c.(1513-1515)Gac>Aac	solute carrier organic anion transporter family, member 2B1						78.0	66.0	70.0					11																	74907638		2200	4293	6493	SO:0001583	missense	11309			sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr11:74907638G>A	AB026256	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26	2013-05-22	2003-11-25	2003-11-26						"""Solute carriers"""	"""Solute carriers"""	10962	10962	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604988	604988	"""solute carrier family 21 (organic anion transporter), member 9"""	SLC21A9	"""solute carrier family 21 (organic anion transporter), member 9"""	SLC21A9				Standard	Standard	NM_007256	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	uc001owb.3	O94956	O94956			ENST00000289575.5:c.1513G>A	11.37:g.74907638G>A	ENSP00000289575:p.Asp505Asn		SLCO2B1_ENST00000341411.4_Missense_Mutation_p.D278N|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.D361N|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.D278N|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.D483N|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.D389N|SLCO2B1_ENST00000531756.1_Missense_Mutation_p.D250N	p.D505N	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN			10	1908	+			505	Kazal-like.	A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Missense_Mutation	SNP	ENST00000289575.5	37	c.1513G>A	CCDS8235.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032254	0.54790	.	.	ENSG00000137491	ENST00000289575;ENST00000341411;ENST00000532236;ENST00000531756;ENST00000525650;ENST00000454962;ENST00000428359	T;T;T;T;T;T;T	0.42900	1.12;1.14;1.26;1.5;0.96;1.14;1.13	4.22	4.22	0.49857	4.22	4.22	0.49857	Major facilitator superfamily domain, general substrate transporter (1);	0.203908	0.43110	D	0.000612	T	0.36386	0.0965	L	0.43152	1.355	0.43043	D	0.994635	P;P;P;P	0.46784	0.678;0.843;0.884;0.678	B;B;B;B	0.41571	0.254;0.36;0.245;0.254	T	0.36986	-0.9725	10	0.66056	D	0.02	.	12.2779	0.54747	0.0:0.0:1.0:0.0	.	361;250;278;505	E9PPU8;E9PPJ4;O94956-2;O94956	.;.;.;SO2B1_HUMAN	N	505;278;389;250;361;278;483	ENSP00000289575:D505N;ENSP00000341286:D278N;ENSP00000434112:D389N;ENSP00000432650:D250N;ENSP00000436324:D361N;ENSP00000389653:D278N;ENSP00000388912:D483N	ENSP00000289575:D505N	D	+	1	0	0	SLCO2B1	74585286	74585286	1.000000	0.71417	0.292000	0.24919	0.598000	0.36846	6.305000	0.72805	2.367000	0.80283	0.555000	0.69702	GAC		0.617	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1		45.188018	-9	-9	49	49	NM_007256		16	46.014927	46.014927	29	0.355556	0	0	0	1	0	16	29	0.355556
COL5A1	1289	broad.mit.edu	37	9	137712052	137712052	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:137712052G>A	ENST00000371817.3	+	58	4951	c.4537G>A	c.(4537-4539)Ggt>Agt	p.G1513S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1513	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGGCTCCTCCGGTCCTAAGGG	0.637																																						ENST00000371817.3											0			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(4537-4539)Ggt>Agt	collagen, type V, alpha 1						70.0	66.0	68.0					9																	137712052		2203	4300	6503	SO:0001583	missense	1289			axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137712052G>A	D90279	D90279	CCDS6982.1, CCDS75932.1	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			2014-09-17			ENSG00000130635	ENSG00000130635	ENSG00000130635	ENSG00000130635		"""Collagens"""	"""Collagens"""	2209	2209	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	"""alpha 1 type V collagen"""	120215	120215						1572660	1572660	Standard	Standard	NM_001278074	NM_001278074		Approved		uc031tfl.1	uc031tfl.1	P20908	P20908	OTTHUMG00000020891	OTTHUMG00000020891	ENST00000371817.3:c.4537G>A	9.37:g.137712052G>A	ENSP00000360882:p.Gly1513Ser			p.G1513S	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	58	4951	+		Myeloproliferative disorder(178;0.0341)	1513	Triple-helical region.	Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.4537G>A	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.634724	0.47049	.	.	ENSG00000130635	ENST00000371817;ENST00000355306	D	0.99607	-6.27	4.69	3.78	0.43462	4.69	3.78	0.43462	.	0.000000	0.85682	U	0.000000	D	0.99687	0.9882	H	0.94503	3.545	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.97889	1.0296	10	0.87932	D	0	.	12.4942	0.55918	0.0821:0.0:0.9179:0.0	.	1513	P20908	CO5A1_HUMAN	S	1513;50	ENSP00000360882:G1513S	ENSP00000347458:G50S	G	+	1	0	0	COL5A1	136851873	136851873	1.000000	0.71417	0.385000	0.26158	0.170000	0.22686	9.713000	0.98740	0.946000	0.37632	0.643000	0.83706	GGT		0.637	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2		17.308735	-15	-15	48	48	NM_000093		7	19.449321	19.449321	24	0.225806	0	0	0	1	0	7	24	0.225806
PANK4	55229	broad.mit.edu	37	1	2445850	2445850	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:2445850G>A	ENST00000378466.3	-	11	1442	c.1430C>T	c.(1429-1431)gCg>gTg	p.A477V	PANK4_ENST00000435556.3_Missense_Mutation_p.A438V	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	477					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GAACTTCTCCGCCCTCTCGGC	0.622																																						ENST00000378466.3											0			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23						c.(1429-1431)gCg>gTg	pantothenate kinase 4						61.0	63.0	62.0					1																	2445850		2203	4300	6503	SO:0001583	missense	55229			coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity	g.chr1:2445850G>A	AK001644	AK001644	CCDS42.1	CCDS42.1	1p36.32	2008-02-05			2008-02-05			ENSG00000157881	ENSG00000157881	ENSG00000157881	ENSG00000157881				19366	19366	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606162	606162						11479594	11479594	Standard	Standard	XR_241034	XR_241034		Approved	FLJ10782	uc001ajm.1	uc001ajm.1	Q9NVE7	Q9NVE7	OTTHUMG00000000791	OTTHUMG00000000791	ENST00000378466.3:c.1430C>T	1.37:g.2445850G>A	ENSP00000367727:p.Ala477Val		PANK4_ENST00000435556.3_Missense_Mutation_p.A438V	p.A477V	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)	11	1442	-	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	477		B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5	Missense_Mutation	SNP	ENST00000378466.3	37	c.1430C>T	CCDS42.1	.	.	.	.	.	.	.	.	.	.	g	19.74	3.883731	0.72410	.	.	ENSG00000157881	ENST00000378466;ENST00000435556	T;T	0.16196	2.36;2.36	5.1	5.1	0.69264	5.1	5.1	0.69264	Domain of unknown function DUF89 (2);	0.000000	0.85682	D	0.000000	T	0.47248	0.1435	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.968	T	0.53265	-0.8463	10	0.72032	D	0.01	-18.1651	17.482	0.87675	0.0:0.0:1.0:0.0	.	438;477	E9PHT6;Q9NVE7	.;PANK4_HUMAN	V	477;438	ENSP00000367727:A477V;ENSP00000421433:A438V	ENSP00000367727:A477V	A	-	2	0	0	PANK4	2435710	2435710	1.000000	0.71417	0.941000	0.38009	0.023000	0.10783	9.173000	0.94815	2.388000	0.81334	0.556000	0.70494	GCG		0.622	PANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002082.1		44.486467	-24	-24	82	82			16	45.543904	45.543904	31	0.340426	0	0	0	1	0	16	31	0.340426
TRIM56	81844	broad.mit.edu	37	7	100731056	100731056	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:100731056G>A	ENST00000306085.6	+	3	760	c.463G>A	c.(463-465)Ggg>Agg	p.G155R		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	155					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					CTACAGGGCCGGGTGGTATGA	0.701																																					Ovarian(89;1092 1379 22756 38989 39611)	ENST00000306085.6											0			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(463-465)Ggg>Agg	tripartite motif containing 56						11.0	15.0	14.0					7																	100731056		1999	4143	6142	SO:0001583	missense	81844			defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr7:100731056G>A	BK000511	BK000511	CCDS43625.1	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871	ENSG00000169871	ENSG00000169871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19028	19028	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""tripartite motif-containing 56"""		"""tripartite motif-containing 56"""					Standard	Standard	NM_030961	NM_030961		Approved	RNF109	uc003uxq.3	uc003uxq.3	Q9BRZ2	Q9BRZ2	OTTHUMG00000157032	OTTHUMG00000157032	ENST00000306085.6:c.463G>A	7.37:g.100731056G>A	ENSP00000305161:p.Gly155Arg			p.G155R	NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN			3	760	+	Lung NSC(181;0.136)|all_lung(186;0.182)		155		Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Missense_Mutation	SNP	ENST00000306085.6	37	c.463G>A	CCDS43625.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.364795	0.41902	.	.	ENSG00000169871	ENST00000306085;ENST00000412507	T;T	0.47528	0.84;1.26	3.99	3.99	0.46301	3.99	3.99	0.46301	.	0.153396	0.30742	N	0.008966	T	0.56485	0.1988	L	0.54965	1.715	0.25879	N	0.983618	D;D	0.76494	0.999;0.999	P;D	0.64042	0.902;0.921	T	0.45527	-0.9255	10	0.20046	T	0.44	.	11.893	0.52641	0.0:0.0:1.0:0.0	.	155;155	C9JI91;Q9BRZ2	.;TRI56_HUMAN	R	155	ENSP00000305161:G155R;ENSP00000404186:G155R	ENSP00000305161:G155R	G	+	1	0	0	TRIM56	100517776	100517776	1.000000	0.71417	0.473000	0.27253	0.510000	0.34073	3.342000	0.52159	2.501000	0.84356	0.655000	0.94253	GGG		0.701	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347185.1		14.470644	-3	-3	19	19	NM_030961		5	14.97058	14.970580	11	0.312500	0	0	0	1	0	5	11	0.3125
HSD17B1	3292	broad.mit.edu	37	17	40706497	40706497	+	Missense_Mutation	SNP	T	T	C			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:40706497T>C	ENST00000585807.1	+	5	4334	c.614T>C	c.(613-615)cTg>cCg	p.L205P	RP11-400F19.6_ENST00000590513.1_RNA|HSD17B1_ENST00000225929.5_Missense_Mutation_p.L206P|RP11-400F19.8_ENST00000585572.1_RNA	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	205					bone development (GO:0060348)|cellular response to metal ion (GO:0071248)|estrogen biosynthetic process (GO:0006703)|estrogen metabolic process (GO:0008210)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|estradiol 17-beta-dehydrogenase activity (GO:0004303)			NS(1)|endometrium(1)|kidney(1)|lung(2)	5		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Equilin(DB02187)	GAGGAGGTGCTGGACCGCACG	0.637																																						ENST00000585807.1											0			NS(1)|endometrium(1)|kidney(1)|lung(2)	5						c.(613-615)cTg>cCg	hydroxysteroid (17-beta) dehydrogenase 1						61.0	47.0	52.0					17																	40706497		2203	4300	6503	SO:0001583	missense	3292			estrogen biosynthetic process	cytosol	binding|estradiol 17-beta-dehydrogenase activity	g.chr17:40706497T>C			CCDS11428.1	CCDS11428.1	17q11-q21	2011-09-14			2011-09-14							1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5210	5210	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""Estradiol 17-beta-dehydrogenase-1"", ""short chain dehydrogenase/reductase family 28CE, member 1"""	"""Estradiol 17-beta-dehydrogenase-1"", ""short chain dehydrogenase/reductase family 28CE, member 1"""	109684	109684		EDHB17, EDH17B2		EDHB17, EDH17B2		2330005, 19027726	2330005, 19027726	Standard	Standard	NM_000413	NM_000413		Approved	HSD17, MGC138140, SDR28C1	uc002hzw.3	uc002hzw.3	P14061	P14061			ENST00000585807.1:c.614T>C	17.37:g.40706497T>C	ENSP00000466799:p.Leu205Pro		RP11-400F19.8_ENST00000585572.1_RNA|HSD17B1_ENST00000225929.5_Missense_Mutation_p.L206P|RP11-400F19.6_ENST00000590513.1_RNA	p.L205P	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.129)	5	4334	+		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)	205		B3KXS1|Q2M2L8	Missense_Mutation	SNP	ENST00000585807.1	37	c.614T>C	CCDS11428.1	.	.	.	.	.	.	.	.	.	.	T	17.89	3.500208	0.64298	.	.	ENSG00000108786	ENST00000225929	.	.	.	4.32	4.32	0.51571	4.32	4.32	0.51571	NAD(P)-binding domain (1);	0.562171	0.17562	N	0.169795	T	0.66519	0.2797	M	0.62723	1.935	0.58432	D	0.999998	D;P	0.59357	0.985;0.709	P;B	0.58266	0.836;0.147	T	0.66280	-0.5963	9	0.46703	T	0.11	.	9.7863	0.40677	0.0:0.0:0.0:1.0	.	236;205	B3RFR9;P14061	.;DHB1_HUMAN	P	205	.	ENSP00000225929:L205P	L	+	2	0	0	HSD17B1	37960023	37960023	1.000000	0.71417	0.491000	0.27477	0.050000	0.14768	3.004000	0.49513	1.830000	0.53286	0.402000	0.26972	CTG		0.637	HSD17B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450392.1		36.831545	5	5	29	29	NM_000413		11	37.333465	37.333465	5	0.687500	0	0	0	1	0	11	5	0.6875
GABRD	2563	hgsc.bcm.edu	37	1	1961509	1961509	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:1961509G>A	ENST00000378585.4	+	9	1230	c.1147G>A	c.(1147-1149)Gtc>Atc	p.V383I		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	383					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GCAGCGCCGCGTCCCGGGGAA	0.692																																																	0																	24.0	28.0	26.0					1																	1961509		2199	4294	6493	SO:0001583	missense	2563							BC033801	BC033801	CCDS36.1	CCDS36.1	1p36.3	2012-06-22			2012-06-22			ENSG00000187730	ENSG00000187730	ENSG00000187730	ENSG00000187730		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4084	4084	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""GABA(A) receptor, delta"""	"""GABA(A) receptor, delta"""	137163	137163						2176788, 10965146	2176788, 10965146	Standard	Standard	NM_000815	NM_000815		Approved		uc001aip.2	uc001aip.2	O14764	O14764	OTTHUMG00000041064	OTTHUMG00000041064	ENST00000378585.4:c.1147G>A	1.37:g.1961509G>A	ENSP00000367848:p.Val383Ile																	Q8N4N9	Missense_Mutation	SNP	ENST00000378585.4	37		CCDS36.1	.	.	.	.	.	.	.	.	.	.	G	0.343	-0.949286	0.02304	.	.	ENSG00000187730	ENST00000378585	D	0.85773	-2.03	3.82	-7.14	0.01527	3.82	-7.14	0.01527	Neurotransmitter-gated ion-channel transmembrane domain (2);	2.625020	0.01431	N	0.014756	T	0.63390	0.2507	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.56294	-0.8003	10	0.32370	T	0.25	-19.1726	4.0475	0.09779	0.5989:0.1211:0.158:0.122	.	383	O14764	GBRD_HUMAN	I	383	ENSP00000367848:V383I	ENSP00000367848:V383I	V	+	1	0	0	GABRD	1951369	1951369	0.000000	0.05858	0.000000	0.03702	0.524000	0.34500	-1.926000	0.01562	-1.457000	0.01919	-0.332000	0.08345	GTC		0.692	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098493.1			-8	-8	47	47	NM_000815		9			25							9	25	
REC8	9985	broad.mit.edu	37	14	24642157	24642157	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr14:24642157G>A	ENST00000311457.3	+	4	774	c.175G>A	c.(175-177)Ggc>Agc	p.G59S	REC8_ENST00000559919.1_Missense_Mutation_p.G59S			O95072	REC8_HUMAN	REC8 meiotic recombination protein	59					double-strand break repair via homologous recombination (GO:0000724)|fertilization (GO:0009566)|linear element assembly (GO:0030999)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|reciprocal meiotic recombination (GO:0007131)|seminiferous tubule development (GO:0072520)|sister chromatid cohesion (GO:0007062)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)	condensed nuclear chromosome kinetochore (GO:0000778)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear meiotic cohesin complex (GO:0034991)|nucleus (GO:0005634)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		CCCGCAGCCCGGCCTGCCGCG	0.607																																					NSCLC(139;1764 2537 12868 49041)	ENST00000311457.3											0			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(175-177)Ggc>Agc	REC8 meiotic recombination protein						54.0	63.0	60.0					14																	24642157		1971	4132	6103	SO:0001583	missense	9985			mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm		g.chr14:24642157G>A	AF006264	AF006264	CCDS41932.1	CCDS41932.1	14q11.2-q12	2013-08-06	2013-08-06	2007-04-03	2013-08-06	2013-08-06	2007-04-03		ENSG00000100918		ENSG00000100918				16879	16879	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608193	608193	"""REC8-like 1 (yeast)"", ""REC8 homolog (yeast)"""	REC8L1	"""REC8-like 1 (yeast)"", ""REC8 homolog (yeast)"""	REC8L1		10207075, 15935783, 12759374	10207075, 15935783, 12759374	Standard	Standard	NM_005132	NM_005132		Approved	Rec8p, kleisin-alpha	uc001wms.3	uc001wms.3	O95072	O95072			ENST00000311457.3:c.175G>A	14.37:g.24642157G>A	ENSP00000308699:p.Gly59Ser		REC8_ENST00000559919.1_Missense_Mutation_p.G59S	p.G59S			O95072	REC8_HUMAN		GBM - Glioblastoma multiforme(265;0.00839)	4	774	+			59		A8K576|D3DS62|Q658V5|Q6IA92|Q8WUV8|Q9BTF2|Q9NVQ9	Missense_Mutation	SNP	ENST00000311457.3	37	c.175G>A	CCDS41932.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.933634	0.92458	.	.	ENSG00000100918	ENST00000311457;ENST00000447460	T	0.24723	1.84	5.39	4.5	0.54988	5.39	4.5	0.54988	Rad21/Rec8-like protein, N-terminal (1);	0.114287	0.64402	N	0.000014	T	0.23688	0.0573	L	0.27053	0.805	0.39814	D	0.972744	D;D	0.56287	0.957;0.975	B;P	0.49922	0.336;0.626	T	0.03354	-1.1045	10	0.23302	T	0.38	-12.6272	11.2615	0.49085	0.0868:0.0:0.9132:0.0	.	59;59	O95072-2;O95072	.;REC8_HUMAN	S	59	ENSP00000308699:G59S	ENSP00000308699:G59S	G	+	1	0	0	REC8	23711997	23711997	0.948000	0.32251	0.773000	0.31616	0.922000	0.55478	2.279000	0.43435	1.253000	0.44018	0.561000	0.74099	GGC		0.607	REC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415889.3		21.057322	-22	-22	39	39	NM_005132		9	24.21961	24.219610	33	0.214286	0	0	0	1	0	9	33	0.214286
RAC3	5881	broad.mit.edu	37	17	79990655	79990655	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:79990655C>T	ENST00000306897.4	+	3	314	c.176C>T	c.(175-177)gCg>gTg	p.A59V		NM_005052.2	NP_005043.1	P60763	RAC3_HUMAN	ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)	59					actin cytoskeleton organization (GO:0030036)|cell projection assembly (GO:0030031)|GTP catabolic process (GO:0006184)|intracellular signal transduction (GO:0035556)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|kidney(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			TGGGACACAGCGGGTCAGGAG	0.617																																						ENST00000306897.4											0			NS(1)|kidney(1)|skin(1)	3						c.(175-177)gCg>gTg	ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)						82.0	82.0	82.0					17																	79990655		2203	4300	6503	SO:0001583	missense	5881			actin cytoskeleton organization|cell projection assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endomembrane system|filamentous actin|growth cone|lamellipodium|neuronal cell body|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr17:79990655C>T	AF008591	AF008591	CCDS11798.1	CCDS11798.1	17q25.3	2014-01-30			2014-01-30				ENSG00000169750		ENSG00000169750		"""Endogenous ligands"""	"""Endogenous ligands"""	9803	9803	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602050	602050								Standard	Standard	NM_005052	NM_005052		Approved		uc002kdf.3	uc002kdf.3	P60763	P60763			ENST00000306897.4:c.176C>T	17.37:g.79990655C>T	ENSP00000304283:p.Ala59Val			p.A59V	NM_005052.2	NP_005043.1	P60763	RAC3_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		3	314	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		59		O14658|Q5U0M8	Missense_Mutation	SNP	ENST00000306897.4	37	c.176C>T	CCDS11798.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.800053	0.90538	.	.	ENSG00000169750	ENST00000306897	D	0.88818	-2.43	3.79	3.79	0.43588	3.79	3.79	0.43588	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.96497	0.8857	H	0.99507	4.6	0.80722	D	1	D	0.56746	0.977	P	0.58266	0.836	D	0.98660	1.0683	9	.	.	.	.	15.8343	0.78787	0.0:1.0:0.0:0.0	.	59	P60763	RAC3_HUMAN	V	59	ENSP00000304283:A59V	.	A	+	2	0	0	RAC3	77583944	77583944	1.000000	0.71417	0.067000	0.19924	0.647000	0.38526	5.585000	0.67497	1.935000	0.56089	0.561000	0.74099	GCG		0.617	RAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442064.1		27.569897	-20	-20	86	86			12	31.987486	31.987486	45	0.210526	0	0	0	1	0	12	45	0.210526
MYBPC2	4606	broad.mit.edu	37	19	50958853	50958853	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:50958853G>A	ENST00000357701.5	+	20	2341	c.2290G>A	c.(2290-2292)Ggg>Agg	p.G764R		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	764	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GAACAGGATCGGGGCAGGTGG	0.612																																						ENST00000357701.5											0			breast(1)	1						c.(2290-2292)Ggg>Agg	myosin binding protein C, fast type						78.0	84.0	82.0					19																	50958853		2046	4194	6240	SO:0001583	missense	4606			cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50958853G>A			CCDS46152.1	CCDS46152.1	19q13.33	2013-02-11	2001-11-28		2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967	ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	7550	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	"""fast-type muscle myosin-binding-protein C"""	160793	160793	"""myosin-binding protein C, fast-type"""		"""myosin-binding protein C, fast-type"""			8375400	8375400	Standard	Standard	NM_004533	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	uc002psf.2	Q14324	Q14324			ENST00000357701.5:c.2290G>A	19.37:g.50958853G>A	ENSP00000350332:p.Gly764Arg			p.G764R	NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	20	2341	+		all_neural(266;0.057)	764	Fibronectin type-III 2.	A1L4G9	Missense_Mutation	SNP	ENST00000357701.5	37	c.2290G>A	CCDS46152.1	.	.	.	.	.	.	.	.	.	.	g	25.6	4.650724	0.87958	.	.	ENSG00000086967	ENST00000357701	T	0.56776	0.44	4.38	4.38	0.52667	4.38	4.38	0.52667	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.34067	U	0.004290	T	0.74966	0.3786	M	0.86178	2.8	0.54753	D	0.999987	D	0.89917	1.0	D	0.97110	1.0	T	0.79470	-0.1790	10	0.54805	T	0.06	.	16.1092	0.81247	0.0:0.0:1.0:0.0	.	764	Q14324	MYPC2_HUMAN	R	764	ENSP00000350332:G764R	ENSP00000350332:G764R	G	+	1	0	0	MYBPC2	55650665	55650665	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	8.851000	0.92205	2.187000	0.69744	0.454000	0.30748	GGG		0.612	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1		47.649383	5	5	103	103	NM_004533		17	50.496237	50.496237	45	0.274194	0	0	0	1	0	17	45	0.274194
GSR	2936	broad.mit.edu	37	8	30541683	30541683	+	Missense_Mutation	SNP	C	C	T	rs138721223	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr8:30541683C>T	ENST00000221130.5	-	10	1165	c.1075G>A	c.(1075-1077)Gta>Ata	p.V359I	GSR_ENST00000537535.1_Missense_Mutation_p.V277I|GSR_ENST00000546342.1_Missense_Mutation_p.V330I|GSR_ENST00000414019.1_Missense_Mutation_p.V316I|GSR_ENST00000541648.1_Missense_Mutation_p.V306I	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	359					cell redox homeostasis (GO:0045454)|glutathione metabolic process (GO:0006749)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|glutathione-disulfide reductase activity (GO:0004362)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Flavin adenine dinucleotide(DB03147)|Glutathione(DB00143)	AATTCGTCTACGATGATATGA	0.423													C|||	2	0.000399361	0.0015	0.0	5008	,	,		23484	0.0		0.0	False		,,,				2504	0.0					ENST00000221130.5											0			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23						c.(1075-1077)Gta>Ata	glutathione reductase	C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	314.0	258.0	277.0		1075,988,916,829	5.8	0.1	8	dbSNP_134	277	0,8600		0,0,4300	no	missense,missense,missense,missense	GSR	NM_000637.3,NM_001195102.1,NM_001195103.1,NM_001195104.1	29,29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	359/523,330/494,306/470,277/441	30541683	1,13005	2203	4300	6503	SO:0001583	missense	2936			cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity	g.chr8:30541683C>T			CCDS34877.1, CCDS56530.1, CCDS56531.1, CCDS56532.1	CCDS34877.1, CCDS56530.1, CCDS56531.1, CCDS56532.1	8p21.1	2012-10-02			2012-10-02			ENSG00000104687	ENSG00000104687	ENSG00000104687	ENSG00000104687	1.8.1.7			4623	4623	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			138300	138300								Standard	Standard	NM_000637	NM_000637		Approved		uc003xih.2	uc003xih.2	P00390	P00390	OTTHUMG00000163946	OTTHUMG00000163946	ENST00000221130.5:c.1075G>A	8.37:g.30541683C>T	ENSP00000221130:p.Val359Ile		GSR_ENST00000546342.1_Missense_Mutation_p.V330I|GSR_ENST00000414019.1_Missense_Mutation_p.V316I|GSR_ENST00000537535.1_Missense_Mutation_p.V277I|GSR_ENST00000541648.1_Missense_Mutation_p.V306I	p.V359I	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	10	1165	-			359		C8KIL8|C8KIL9|C8KIM0|D3DSV3|Q7Z5C9|Q9NP63	Missense_Mutation	SNP	ENST00000221130.5	37	c.1075G>A	CCDS34877.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	20.7	4.037543	0.75617	2.27E-4	0.0	ENSG00000104687	ENST00000221130;ENST00000414019;ENST00000546342;ENST00000541648;ENST00000537535	T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03	5.77	5.77	0.91146	5.77	5.77	0.91146	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.052405	0.85682	D	0.000000	T	0.77870	0.4195	L	0.61036	1.89	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.78927	-0.2011	10	0.87932	D	0	-27.7358	17.5536	0.87884	0.0:1.0:0.0:0.0	.	359	P00390	GSHR_HUMAN	I	359;316;330;306;277	ENSP00000221130:V359I;ENSP00000390065:V316I;ENSP00000445516:V330I;ENSP00000444559:V306I;ENSP00000438845:V277I	ENSP00000221130:V359I	V	-	1	0	0	GSR	30661225	30661225	1.000000	0.71417	0.147000	0.22382	0.242000	0.25591	7.075000	0.76798	2.743000	0.94032	0.644000	0.83932	GTA		0.423	GSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376519.1		101.859858	-23	-23	127	127			33	102.620833	102.620833	50	0.397590	0	0	0	1	0	33	50	0.39759
AP3D1	8943	broad.mit.edu	37	19	2118737	2118737	+	Missense_Mutation	SNP	C	C	T	rs369318068	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:2118737C>T	ENST00000345016.5	-	15	1807	c.1576G>A	c.(1576-1578)Gtg>Atg	p.V526M	AP3D1_ENST00000590683.1_5'Flank|AP3D1_ENST00000350812.6_Missense_Mutation_p.V357M|AP3D1_ENST00000355272.6_Missense_Mutation_p.V526M|AP3D1_ENST00000356926.4_Missense_Mutation_p.V435M	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	526					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTTGACCACGTTCTGCACA	0.652													C|||	4	0.000798722	0.0008	0.0029	5008	,	,		19537	0.0		0.001	False		,,,				2504	0.0					ENST00000355272.6											0			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1576-1578)Gtg>Atg	adaptor-related protein complex 3, delta 1 subunit	C	MET/VAL,MET/VAL	0,4394		0,0,2197	58.0	65.0	63.0		1303,1576	3.5	1.0	19		63	2,8592	1.2+/-3.3	0,2,4295	no	missense,missense	AP3D1	NM_001077523.1,NM_003938.5	21,21	0,2,6492	TT,TC,CC		0.0233,0.0,0.0154	benign,benign	435/1113,526/1154	2118737	2,12986	2197	4297	6494	SO:0001583	missense	8943			eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity	g.chr19:2118737C>T	U91930	U91930	CCDS42459.1, CCDS58638.1	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			2014-09-04			ENSG00000065000	ENSG00000065000	ENSG00000065000	ENSG00000065000				568	568	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607246	607246						9151686, 9303295	9151686, 9303295	Standard	Standard	NM_003938	NM_003938		Approved	ADTD	uc002lva.4	uc002lva.4	O14617	O14617	OTTHUMG00000180354	OTTHUMG00000180354	ENST00000345016.5:c.1576G>A	19.37:g.2118737C>T	ENSP00000344055:p.Val526Met		AP3D1_ENST00000356926.4_Missense_Mutation_p.V435M|AP3D1_ENST00000345016.5_Missense_Mutation_p.V526M|AP3D1_ENST00000350812.6_Missense_Mutation_p.V357M	p.V526M	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	15	1782	-		Hepatocellular(1079;0.137)	526		O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP	ENST00000345016.5	37	c.1576G>A	CCDS42459.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.126098	0.37533	0.0	2.33E-4	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000343722;ENST00000350812	T;T;T;T	0.13778	2.56;2.56;2.56;2.56	4.82	3.55	0.40652	4.82	3.55	0.40652	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.249984	0.40302	N	0.001127	T	0.11750	0.0286	L	0.49571	1.57	0.40710	D	0.982562	P;P;P	0.41265	0.676;0.709;0.744	B;B;B	0.34590	0.101;0.157;0.186	T	0.04693	-1.0933	10	0.56958	D	0.05	-44.5581	9.6945	0.40150	0.0:0.8407:0.0:0.1593	.	526;526;435	O14617-5;O14617;G5E988	.;AP3D1_HUMAN;.	M	435;526;526;526;357	ENSP00000349398:V435M;ENSP00000344055:V526M;ENSP00000347416:V526M;ENSP00000342321:V357M	ENSP00000341579:V526M	V	-	1	0	0	AP3D1	2069737	2069737	0.996000	0.38824	1.000000	0.80357	0.771000	0.43674	3.004000	0.49513	2.239000	0.73571	0.561000	0.74099	GTG		0.652	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1		19.380470	-14	-14	26	26			8	22.128886	22.128886	29	0.216216	0	0	0	1	0	8	29	0.216216
CAMSAP1	157922	broad.mit.edu	37	9	138713079	138713079	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:138713079C>T	ENST00000389532.4	-	11	3492	c.3428G>A	c.(3427-3429)cGg>cAg	p.R1143Q	CAMSAP1_ENST00000409386.3_Missense_Mutation_p.R1154Q|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.R865Q	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1143					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CGTGGGCGTCCGAGGGTGGCT	0.607																																						ENST00000389532.4											0			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47						c.(3427-3429)cGg>cAg	calmodulin regulated spectrin-associated protein 1						60.0	74.0	69.0					9																	138713079		2203	4300	6503	SO:0001583	missense	157922				cytoplasm|microtubule		g.chr9:138713079C>T	AJ519841	AJ519841	CCDS35176.2	CCDS35176.2	9q34.3	2008-02-05			2008-02-05			ENSG00000130559	ENSG00000130559	ENSG00000130559	ENSG00000130559				19946	19946	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613774	613774						12477932	12477932	Standard	Standard	NM_015447	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	uc004cgr.4	Q5T5Y3	Q5T5Y3	OTTHUMG00000020918	OTTHUMG00000020918	ENST00000389532.4:c.3428G>A	9.37:g.138713079C>T	ENSP00000374183:p.Arg1143Gln		CAMSAP1_ENST00000409386.3_Missense_Mutation_p.R1154Q|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.R865Q	p.R1143Q	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	11	3492	-			1143		A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	37	c.3428G>A	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	C	7.177	0.588804	0.13812	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.12984	2.63;2.63;2.63	5.29	5.29	0.74685	5.29	5.29	0.74685	.	1.087730	0.06978	N	0.819294	T	0.12050	0.0293	L	0.48362	1.52	0.24121	N	0.995802	P;P	0.43094	0.762;0.799	B;B	0.30572	0.057;0.117	T	0.23332	-1.0191	10	0.87932	D	0	.	7.2277	0.26024	0.0:0.7903:0.0:0.2097	.	1143;1154	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	Q	1143;865;1154	ENSP00000374183:R1143Q;ENSP00000312463:R865Q;ENSP00000386420:R1154Q	ENSP00000312463:R865Q	R	-	2	0	0	CAMSAP1	137852900	137852900	0.097000	0.21791	0.068000	0.19968	0.087000	0.18053	0.464000	0.21988	2.620000	0.88729	0.561000	0.74099	CGG		0.607	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2		99.126003	-20	-20	83	83	XM_351857		31	99.126003	99.126003	31	0.500000	0	0	0	1	0	31	31	0.5
CSMD2	114784	broad.mit.edu	37	1	34090146	34090146	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:34090146G>A	ENST00000373380.1	-	14	2437	c.2217C>T	c.(2215-2217)atC>atT	p.I739I	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Silent_p.I1866I|CSMD2_ENST00000373377.1_5'UTR			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1826	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CGGGGACCACGATCTTCCACA	0.647																																						ENST00000373381.4											0			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(5596-5598)atC>atT	CUB and Sushi multiple domains 2						129.0	106.0	114.0					1																	34090146		2203	4300	6503	SO:0001819	synonymous_variant	114784				integral to membrane|plasma membrane	protein binding	g.chr1:34090146G>A	AY210418	AY210418	CCDS380.1, CCDS60082.1	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			2014-01-28			ENSG00000121904	ENSG00000121904	ENSG00000121904	ENSG00000121904				19290	19290	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608398	608398						11472063, 11572484	11472063, 11572484	Standard	Standard	NM_001281956	NM_001281956		Approved	KIAA1884	uc001bxn.1	uc001bxn.1	Q7Z408	Q7Z408	OTTHUMG00000011135	OTTHUMG00000011135	ENST00000373380.1:c.2217C>T	1.37:g.34090146G>A			CSMD2_ENST00000373380.1_Silent_p.I739I|CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373377.1_5'UTR	p.I1866I	NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN			35	5774	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1826	CUB 11.	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373380.1	37	c.5598C>T																																																																																										0.647	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4		17.372585	-13	-13	71	71	NM_052896		8	21.988193	21.988193	38	0.173913	0	0	0	1	0	8	38	0.173913
RNASEH2A	10535	broad.mit.edu	37	19	12918311	12918311	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:12918311C>T	ENST00000221486.4	+	4	496	c.402C>T	c.(400-402)aaC>aaT	p.N134N		NM_006397.2	NP_006388.2	O75792	RNH2A_HUMAN	ribonuclease H2, subunit A	134					DNA replication (GO:0006260)|mismatch repair (GO:0006298)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	nucleus (GO:0005634)|ribonuclease H2 complex (GO:0032299)	metal ion binding (GO:0046872)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	14						AGGGCGTGAACGTCACCCAGG	0.498																																						ENST00000221486.4											0			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	14						c.(400-402)aaC>aaT	ribonuclease H2, subunit A						130.0	113.0	119.0					19																	12918311		2203	4300	6503	SO:0001819	synonymous_variant	10535			DNA replication|RNA catabolic process	nucleus|ribonuclease H2 complex	metal ion binding|ribonuclease H activity|RNA binding	g.chr19:12918311C>T	Z97029	Z97029	CCDS12282.1	CCDS12282.1	19p13.13	2014-09-17	2006-08-17		2014-09-17	2006-08-17			ENSG00000104889		ENSG00000104889	3.1.26.-			18518	18518	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606034	606034	"""ribonuclease H2, large subunit"", ""Aicardi-Goutieres syndrome 4"""		"""ribonuclease H2, large subunit"", ""Aicardi-Goutieres syndrome 4"""			9789007, 16845400	9789007, 16845400	Standard	Standard	NM_006397	NM_006397		Approved	RNASEHI, RNHIA, RNHL, AGS4	uc002mvg.1	uc002mvg.1	O75792	O75792			ENST00000221486.4:c.402C>T	19.37:g.12918311C>T				p.N134N	NM_006397.2	NP_006388.2	O75792	RNH2A_HUMAN			4	496	+			134		B2RCY1|Q96F11	Silent	SNP	ENST00000221486.4	37	c.402C>T	CCDS12282.1																																																																																									0.498	RNASEH2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451507.1		93.779269	-3	-3	67	67	NM_006397		29	93.988405	93.988405	22	0.568627	0	0	0	1	0	29	22	0.568627
BRD4	23476	broad.mit.edu	37	19	15364970	15364970	+	Silent	SNP	G	G	A	rs200329089		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:15364970G>A	ENST00000263377.2	-	11	2372	c.2151C>T	c.(2149-2151)tcC>tcT	p.S717S	BRD4_ENST00000371835.4_Silent_p.S717S|BRD4_ENST00000360016.5_Silent_p.S717S|BRD4_ENST00000602230.1_5'Flank	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	717	Ser-rich.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			AACCTGTTTCGGAGTCTTCGC	0.542			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000263377.2		Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21						c.(2149-2151)tcC>tcT	bromodomain containing 4						76.0	66.0	70.0					19																	15364970		2203	4300	6503	SO:0001819	synonymous_variant	23476			interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	g.chr19:15364970G>A	Y12059	Y12059	CCDS12328.1, CCDS46004.1	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867	ENSG00000141867	ENSG00000141867				13575	13575	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	"""chromosome-associated protein"""	608749	608749	"""bromodomain-containing 4"""		"""bromodomain-containing 4"""			10938129	10938129	Standard	Standard	NM_058243	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	uc002nar.3	O60885	O60885	OTTHUMG00000183252	OTTHUMG00000183252	ENST00000263377.2:c.2151C>T	19.37:g.15364970G>A			BRD4_ENST00000371835.4_Silent_p.S717S|BRD4_ENST00000360016.5_Silent_p.S717S	p.S717S	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		11	2372	-			717	Ser-rich.	O60433|Q4G0X8|Q86YS8|Q96PD3	Silent	SNP	ENST00000263377.2	37	c.2151C>T	CCDS12328.1																																																																																									0.542	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3		7.216647	-10	-10	16	16	NM_058243		3	8.471963	8.471963	12	0.200000	0	0	0	1	0	3	12	0.2
DDHD2	23259	broad.mit.edu	37	8	38095674	38095674	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr8:38095674G>A	ENST00000397166.2	+	5	1094	c.569G>A	c.(568-570)cGa>cAa	p.R190Q	DDHD2_ENST00000520272.2_Missense_Mutation_p.R190Q	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	190					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			GAGCAGGGTCGACCAAGAACT	0.398																																						ENST00000397166.2											0			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28						c.(568-570)cGa>cAa	DDHD domain containing 2						230.0	208.0	215.0					8																	38095674		2203	4300	6503	SO:0001583	missense	23259			lipid catabolic process	centrosome	hydrolase activity|metal ion binding	g.chr8:38095674G>A	AK056525	AK056525	CCDS34883.1	CCDS34883.1	8p11.23	2014-03-03	2004-04-05	2004-04-07	2014-03-03	2004-04-05	2004-04-07						"""Sterile alpha motif (SAM) domain containing"""	"""Sterile alpha motif (SAM) domain containing"""	29106	29106	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615003	615003	"""SAM, WWE and DDHD domain containing 1"""	SAMWD1	"""SAM, WWE and DDHD domain containing 1"""	SAMWD1		9872452, 11788596, 19632984, 20932832	9872452, 11788596, 19632984, 20932832	Standard	Standard	NM_015214	NM_015214		Approved	KIAA0725, SPG54	uc003xlc.3	uc003xlc.3	O94830	O94830			ENST00000397166.2:c.569G>A	8.37:g.38095674G>A	ENSP00000380352:p.Arg190Gln		DDHD2_ENST00000520272.2_Missense_Mutation_p.R190Q	p.R190Q	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)		5	1094	+	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	190		B3KWV2|B3KXB5|Q9H8X7	Missense_Mutation	SNP	ENST00000397166.2	37	c.569G>A	CCDS34883.1	.	.	.	.	.	.	.	.	.	.	G	36	5.678988	0.96764	.	.	ENSG00000085788	ENST00000397166;ENST00000532222;ENST00000520272	T;T;T	0.35973	1.28;1.28;1.28	5.91	5.91	0.95273	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.56978	0.2022	L	0.50847	1.595	0.80722	D	1	P;D	0.89917	0.796;1.0	B;D	0.80764	0.126;0.994	T	0.52260	-0.8599	10	0.52906	T	0.07	-12.3436	19.3432	0.94352	0.0:0.0:1.0:0.0	.	190;190	O94830;E9PKE6	DDHD2_HUMAN;.	Q	190	ENSP00000380352:R190Q;ENSP00000433578:R190Q;ENSP00000429932:R190Q	ENSP00000380352:R190Q	R	+	2	0	0	DDHD2	38214831	38214831	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	9.475000	0.97721	2.812000	0.96745	0.558000	0.71614	CGA		0.398	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377251.2		111.427057	-9	-9	106	106	XM_291291		35	111.427057	111.427057	35	0.500000	0	0	0	1	0	35	35	0.5
CACHD1	57685	broad.mit.edu	37	1	65141094	65141094	+	Missense_Mutation	SNP	C	C	T	rs182391558		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:65141094C>T	ENST00000371073.2	+	20	2738	c.2738C>T	c.(2737-2739)aCg>aTg	p.T913M	CACHD1_ENST00000290039.5_Missense_Mutation_p.T862M|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	913					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GGGGATTTGACGAACCTTGTG	0.463											OREG0013544	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0	0.0014	5008	,	,		17058	0.0		0.0	False		,,,				2504	0.0					ENST00000371073.2											0			breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(2737-2739)aCg>aTg	cache domain containing 1						134.0	123.0	127.0					1																	65141094		2203	4300	6503	SO:0001583	missense	57685			calcium ion transport	integral to membrane		g.chr1:65141094C>T	AB046793	AB046793	CCDS628.2	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966	ENSG00000158966	ENSG00000158966				29314	29314	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""von Willebrand factor type A and cache domain containing 1"""	VWCD1	"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	10997877	Standard	Standard	NM_020925	NM_020925		Approved	KIAA1573	uc001dbo.1	uc001dbo.1	Q5VU97	Q5VU97	OTTHUMG00000009030	OTTHUMG00000009030	ENST00000371073.2:c.2738C>T	1.37:g.65141094C>T	ENSP00000360113:p.Thr913Met	1081	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.T862M	p.T913M			Q5VU97	CAHD1_HUMAN			20	2738	+			913		Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37	c.2738C>T		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	20.7	4.031369	0.75504	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.27720	1.65;1.66	5.85	5.85	0.93711	5.85	5.85	0.93711	.	0.132555	0.64402	D	0.000002	T	0.25121	0.0610	M	0.67397	2.05	0.80722	D	1	P	0.51240	0.943	B	0.37304	0.246	T	0.26780	-1.0093	10	0.72032	D	0.01	-20.5642	20.1634	0.98142	0.0:1.0:0.0:0.0	.	913	Q5VU97	CAHD1_HUMAN	M	913;862	ENSP00000360113:T913M;ENSP00000290039:T862M	ENSP00000290039:T862M	T	+	2	0	0	CACHD1	64913682	64913682	1.000000	0.71417	0.984000	0.44739	0.798000	0.45092	7.304000	0.78882	2.773000	0.95371	0.655000	0.94253	ACG		0.463	CACHD1-201	KNOWN	basic	protein_coding	protein_coding			14.896492	8	8	90	90	NM_020925		10	25.162122	25.162122	67	0.129870	0	0	0	1	0	10	67	0.12987
KIAA1217	56243	broad.mit.edu	37	10	24810824	24810824	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr10:24810824C>T	ENST00000376454.3	+	12	2452	c.2422C>T	c.(2422-2424)Cgc>Tgc	p.R808C	KIAA1217_ENST00000307544.6_Missense_Mutation_p.R491C|KIAA1217_ENST00000376451.2_Missense_Mutation_p.R491C|KIAA1217_ENST00000396445.1_Missense_Mutation_p.R491C|KIAA1217_ENST00000376462.1_Missense_Mutation_p.R728C|KIAA1217_ENST00000396446.1_Missense_Mutation_p.R491C|KIAA1217_ENST00000458595.1_Missense_Mutation_p.R773C|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000376452.3_Missense_Mutation_p.R773C	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	808					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GAAGCGTGTGCGCAGCATGAC	0.612																																						ENST00000376451.2											0			breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(1471-1473)Cgc>Tgc	KIAA1217						61.0	56.0	58.0					10																	24810824		2203	4300	6503	SO:0001583	missense	56243			embryonic skeletal system development	cytoplasm		g.chr10:24810824C>T	BX640796	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			2009-09-16			ENSG00000120549	ENSG00000120549	ENSG00000120549	ENSG00000120549				25428	25428	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""sickle tail"""	"""sickle tail"""								10574462	10574462	Standard	Standard	XM_005252500	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	uc001iru.4	Q5T5P2	Q5T5P2	OTTHUMG00000017824	OTTHUMG00000017824	ENST00000376454.3:c.2422C>T	10.37:g.24810824C>T	ENSP00000365637:p.Arg808Cys		KIAA1217_ENST00000376462.1_Missense_Mutation_p.R728C|KIAA1217_ENST00000376454.3_Missense_Mutation_p.R808C|KIAA1217_ENST00000458595.1_Missense_Mutation_p.R773C|KIAA1217_ENST00000396445.1_Missense_Mutation_p.R491C|KIAA1217_ENST00000307544.6_Missense_Mutation_p.R491C|KIAA1217_ENST00000376452.3_Missense_Mutation_p.R773C|KIAA1217_ENST00000396446.1_Missense_Mutation_p.R491C|KIAA1217_ENST00000430453.2_Intron	p.R491C			Q5T5P2	SKT_HUMAN			7	1731	+			808		A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.1471C>T	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396720	0.83120	.	.	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;T;T;T;T;T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14	5.95	4.05	0.47172	5.95	4.05	0.47172	.	0.111662	0.64402	D	0.000011	T	0.74627	0.3741	M	0.70275	2.135	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.999;0.987;0.999;0.996;0.999;0.999;0.998;0.992	T	0.77613	-0.2522	10	0.87932	D	0	.	15.2148	0.73258	0.2575:0.7425:0.0:0.0	.	773;773;491;491;491;491;808;808	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	C	728;773;773;491;808;773;623;491;491;491;491;491	ENSP00000365645:R728C;ENSP00000365639:R773C;ENSP00000392625:R773C;ENSP00000365637:R808C;ENSP00000365635:R773C;ENSP00000404798:R623C;ENSP00000302343:R491C;ENSP00000379722:R491C;ENSP00000365634:R491C;ENSP00000379723:R491C	ENSP00000302343:R491C	R	+	1	0	0	KIAA1217	24850830	24850830	1.000000	0.71417	0.971000	0.41717	0.893000	0.52053	1.522000	0.35921	0.796000	0.33947	0.563000	0.77884	CGC		0.612	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2		54.846785	-1	-1	38	38	NM_019590		18	54.896917	54.896917	21	0.461538	0	0	0	1	0	18	21	0.461538
EFNA4	1945	broad.mit.edu	37	1	155041446	155041446	+	Missense_Mutation	SNP	G	G	A	rs200331554		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:155041446G>A	ENST00000368409.3	+	4	680	c.587G>A	c.(586-588)cGt>cAt	p.R196H	EFNA3_ENST00000556931.1_Intron|EFNA4_ENST00000427683.2_Intron|EFNA4_ENST00000359751.4_Intron|EFNA3_ENST00000505139.1_Intron	NM_005227.2	NP_005218.1	P52798	EFNA4_HUMAN	ephrin-A4	196					axon guidance (GO:0007411)|bone remodeling (GO:0046849)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|osteoclast differentiation (GO:0030316)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			breast(1)|endometrium(1)|large_intestine(1)|ovary(1)	4	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CTGATTCTTCGTCTTCTGCGA	0.597																																						ENST00000368409.3											0			breast(1)|endometrium(1)|large_intestine(1)|ovary(1)	4						c.(586-588)cGt>cAt	ephrin-A4						122.0	123.0	123.0					1																	155041446		2203	4300	6503	SO:0001583	missense	1945						g.chr1:155041446G>A	AJ006352	AJ006352	CCDS1089.1, CCDS41407.1, CCDS44237.1	CCDS1089.1, CCDS41407.1, CCDS44237.1	1q21-q22	2011-03-09			2011-03-09			ENSG00000243364	ENSG00000243364	ENSG00000243364	ENSG00000243364		"""Ephrins"""	"""Ephrins"""	3224	3224	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601380	601380		EPLG4		EPLG4		8660976	8660976	Standard	Standard	NM_182690	NM_182690		Approved	LERK4			P52798	P52798	OTTHUMG00000035309	OTTHUMG00000035309	ENST00000368409.3:c.587G>A	1.37:g.155041446G>A	ENSP00000357394:p.Arg196His		EFNA3_ENST00000505139.1_Intron|EFNA4_ENST00000359751.4_Intron|EFNA3_ENST00000556931.1_Intron|EFNA4_ENST00000427683.2_Intron	p.R196H	NM_005227.2	NP_005218.1			BRCA - Breast invasive adenocarcinoma(34;0.000434)		4	680	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)				C9JHJ8|G3XAK2|O95457|Q5SR71|Q6FI57	Missense_Mutation	SNP	ENST00000368409.3	37	c.587G>A	CCDS1089.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.449242	0.43531	.	.	ENSG00000243364	ENST00000368409	D	0.94138	-3.36	5.11	5.11	0.69529	5.11	5.11	0.69529	.	0.205916	0.22529	N	0.058864	D	0.91915	0.7440	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.92464	0.5980	10	0.49607	T	0.09	.	13.896	0.63773	0.0:0.0:1.0:0.0	.	196	P52798	EFNA4_HUMAN	H	196	ENSP00000357394:R196H	ENSP00000357394:R196H	R	+	2	0	0	EFNA4	153308070	153308070	0.989000	0.36119	0.998000	0.56505	0.917000	0.54804	4.168000	0.58216	2.665000	0.90641	0.655000	0.94253	CGT		0.597	EFNA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000085421.2		28.103651	15	15	85	85	NM_005227		11	30.603647	30.603647	33	0.250000	0	0	0	1	0	11	33	0.25
GNA11	2767	broad.mit.edu	37	19	3115012	3115012	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:3115012C>T	ENST00000078429.4	+	4	789	c.547C>T	c.(547-549)Cgc>Tgc	p.R183C		NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	183					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.R183C(5)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GCTGCGGGTCCGCGTGCCCAC	0.672			Mis		uveal melanoma																																	ENST00000078429.4		Dom	yes		19	19p13.3	2767	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""		E	5	Substitution - Missense(5)	eye(4)|skin(1)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(547-549)Cgc>Tgc	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						106.0	97.0	100.0					19																	3115012		2203	4299	6502	SO:0001583	missense	2767			activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3115012C>T	AF493900	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"""hypocalciuric hypercalcemia 2"""	HHC2	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.547C>T	19.37:g.3115012C>T	ENSP00000078429:p.Arg183Cys			p.R183C	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	4	789	+		Hepatocellular(1079;0.137)	183		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.547C>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	20.4	3.984974	0.74474	.	.	ENSG00000088256	ENST00000078429	D	0.92199	-2.99	3.92	2.82	0.32997	3.92	2.82	0.32997	G protein alpha subunit, helical insertion (1);	0.000000	0.64402	D	0.000007	D	0.97448	0.9165	H	0.99312	4.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96915	0.9670	10	0.87932	D	0	.	10.0525	0.42225	0.4339:0.5661:0.0:0.0	.	183	P29992	GNA11_HUMAN	C	183	ENSP00000078429:R183C	ENSP00000078429:R183C	R	+	1	0	0	GNA11	3066012	3066012	0.975000	0.34042	0.981000	0.43875	0.991000	0.79684	2.467000	0.45093	1.752000	0.51891	0.556000	0.70494	CGC		0.672	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		106.340323	-27	-27	135	135	NM_002067		34	106.6193	106.619300	44	0.435897	0	0	0	1	0	34	44	0.435897
UNC5CL	222643	broad.mit.edu	37	6	41000848	41000848	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:41000848C>T	ENST00000373164.1	-	3	784	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	UNC5CL_ENST00000470102.1_5'Flank|UNC5CL_ENST00000244565.3_Missense_Mutation_p.E242K			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	242	Interaction with RELA and NFKB1.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|proteolysis (GO:0006508)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	peptidase activity (GO:0008233)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					TTGCGGGCTTCGCGCCCCACA	0.602																																						ENST00000244565.3											0			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13						c.(724-726)Gaa>Aaa	unc-5 homolog C (C. elegans)-like						38.0	34.0	36.0					6																	41000848		2201	4300	6501	SO:0001583	missense	222643			signal transduction	cytoplasm|integral to membrane		g.chr6:41000848C>T	BC035284	BC035284	CCDS4847.1	CCDS4847.1	6p21.1	2013-10-15			2013-10-15			ENSG00000124602	ENSG00000124602	ENSG00000124602	ENSG00000124602				21203	21203	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""ZU5 and death domain containing"""	"""ZU5 and death domain containing"""								14769797	14769797	Standard	Standard	NM_173561	NM_173561		Approved	MGC34763, ZUD	uc003opi.3	uc003opi.3	Q8IV45	Q8IV45	OTTHUMG00000014665	OTTHUMG00000014665	ENST00000373164.1:c.724G>A	6.37:g.41000848C>T	ENSP00000362258:p.Glu242Lys		UNC5CL_ENST00000373164.1_Missense_Mutation_p.E242K	p.E242K	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN			4	812	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		242	Interaction with RELA and NFKB1.	Q5TGU1	Missense_Mutation	SNP	ENST00000373164.1	37	c.724G>A	CCDS4847.1	.	.	.	.	.	.	.	.	.	.	C	0.048	-1.260412	0.01445	.	.	ENSG00000124602	ENST00000244565;ENST00000373164	T;T	0.13901	2.55;2.55	5.49	2.73	0.32206	5.49	2.73	0.32206	.	1.324110	0.05320	N	0.526352	T	0.01835	0.0058	N	0.14661	0.345	0.09310	N	1	B	0.18013	0.025	B	0.08055	0.003	T	0.39187	-0.9626	10	0.06891	T	0.86	0.3977	7.2747	0.26277	0.0:0.7184:0.0:0.2816	.	242	Q8IV45	UN5CL_HUMAN	K	242	ENSP00000244565:E242K;ENSP00000362258:E242K	ENSP00000244565:E242K	E	-	1	0	0	UNC5CL	41108826	41108826	0.007000	0.16637	0.001000	0.08648	0.000000	0.00434	1.031000	0.30165	0.274000	0.22072	-0.140000	0.14226	GAA		0.602	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040491.1		18.349028	1	1	14	14	NM_173561		6	18.365729	18.365729	7	0.461538	0	0	0	1	0	6	7	0.461538
OR2A14	135941	broad.mit.edu	37	7	143826996	143826996	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:143826996G>A	ENST00000408899.2	+	1	846	c.791G>A	c.(790-792)cGc>cAc	p.R264H		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					CCCAAGTCCCGCCATCCTGAG	0.542																																						ENST00000408899.2											0			large_intestine(4)|lung(17)|skin(1)	22						c.(790-792)cGc>cAc	olfactory receptor, family 2, subfamily A, member 14						116.0	122.0	120.0					7																	143826996		1977	4168	6145	SO:0001583	missense	135941			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143826996G>A			CCDS43672.1	CCDS43672.1	7q35	2013-09-20		2004-03-08	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938	ENSG00000221938	ENSG00000221938		"""GPCR / Class A : Olfactory receptors"""	"""GPCR / Class A : Olfactory receptors"""	15084	15084	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product						OR2A14P, OR2A6		OR2A14P, OR2A6				Standard	Standard	NM_001001659	NM_001001659		Approved	OST182	uc011kua.2	uc011kua.2	Q96R47	Q96R47	OTTHUMG00000158003	OTTHUMG00000158003	ENST00000408899.2:c.791G>A	7.37:g.143826996G>A	ENSP00000386137:p.Arg264His			p.R264H	NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN			1	846	+	Melanoma(164;0.0783)		264		Q6IF41|Q8NGT8	Missense_Mutation	SNP	ENST00000408899.2	37	c.791G>A	CCDS43672.1	.	.	.	.	.	.	.	.	.	.	G	2.913	-0.224927	0.06022	.	.	ENSG00000221938	ENST00000408899	T	0.00115	8.71	4.18	-5.3	0.02738	4.18	-5.3	0.02738	GPCR, rhodopsin-like superfamily (1);	2.119410	0.03153	U	0.168207	T	0.00109	0.0003	N	0.12746	0.255	0.09310	N	1	B	0.10296	0.003	B	0.13407	0.009	T	0.28235	-1.0050	10	0.54805	T	0.06	0.4492	8.5452	0.33417	0.6459:0.1234:0.2307:0.0	.	264	Q96R47	O2A14_HUMAN	H	264	ENSP00000386137:R264H	ENSP00000386137:R264H	R	+	2	0	0	OR2A14	143457929	143457929	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.642000	0.00863	-1.416000	0.02019	-1.077000	0.02231	CGC		0.542	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349980.1		118.349831	-47	-47	194	194			42	119.686936	119.686936	68	0.381818	0	0	0	1	0	42	68	0.381818
PCDHB7	56129	broad.mit.edu	37	5	140554409	140554409	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:140554409G>A	ENST00000231137.3	+	1	2167	c.1993G>A	c.(1993-1995)Ggc>Agc	p.G665S	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	665	Cadherin 6. {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(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGGTGGACGGCTTCTCCCA	0.701																																						ENST00000231137.3											0			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1993-1995)Ggc>Agc							41.0	65.0	57.0					5																	140554409		2178	4274	6452	SO:0001583	missense	0			calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554409G>A	AF152500	AF152500	CCDS4249.1	CCDS4249.1	5q31	2010-01-26			2010-01-26			ENSG00000113212	ENSG00000113212	ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	"""Cadherins / Protocadherins : Clustered"""	8692	8692	other	protocadherin	other	protocadherin			606333	606333						10380929	10380929	Standard	Standard	NM_018940	NM_018940		Approved	PCDH-BETA7	uc003lit.3	uc003lit.3	Q9Y5E2	Q9Y5E2	OTTHUMG00000129608	OTTHUMG00000129608	ENST00000231137.3:c.1993G>A	5.37:g.140554409G>A	ENSP00000231137:p.Gly665Ser			p.G665S	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2167	+			665	Cadherin 6.	A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.1993G>A	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.043627	0.55003	.	.	ENSG00000113212	ENST00000231137	T	0.47869	0.83	3.98	3.98	0.46160	3.98	3.98	0.46160	Cadherin (2);	.	.	.	.	T	0.49270	0.1547	N	0.17474	0.49	0.31529	N	0.661409	D	0.89917	1.0	D	0.97110	1.0	T	0.46884	-0.9159	9	0.20519	T	0.43	.	12.0813	0.53671	0.0:0.1742:0.8258:0.0	.	665	Q9Y5E2	PCDB7_HUMAN	S	665	ENSP00000231137:G665S	ENSP00000231137:G665S	G	+	1	0	0	PCDHB7	140534593	140534593	0.008000	0.16893	1.000000	0.80357	0.944000	0.59088	1.938000	0.40203	1.922000	0.55676	0.449000	0.29647	GGC		0.701	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2		82.966112	27	27	218	218	NM_018940		33	92.606359	92.606359	111	0.229167	0	0	0	1	0	33	111	0.229167
PPFIBP2	8495	broad.mit.edu	37	11	7652162	7652162	+	Missense_Mutation	SNP	C	C	T	rs201945661		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:7652162C>T	ENST00000299492.4	+	11	1359	c.971C>T	c.(970-972)tCg>tTg	p.S324L	PPFIBP2_ENST00000530181.1_Missense_Mutation_p.S181L|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.S166L|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.S212L	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	324					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GCAGGGCCTTCGGAGAGAACT	0.388													C|||	1	0.000199681	0.0	0.0	5008	,	,		20246	0.001		0.0	False		,,,				2504	0.0					ENST00000299492.4											0			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(970-972)tCg>tTg	PTPRF interacting protein, binding protein 2 (liprin beta 2)						110.0	117.0	115.0					11																	7652162		2201	4296	6497	SO:0001583	missense	8495			cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding	g.chr11:7652162C>T	AF034803	AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			2013-01-10			ENSG00000166387	ENSG00000166387	ENSG00000166387	ENSG00000166387		"""Sterile alpha motif (SAM) domain containing"""	"""Sterile alpha motif (SAM) domain containing"""	9250	9250	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603142	603142						9624153	9624153	Standard	Standard	NM_003621	NM_003621		Approved	Cclp1	uc001mfj.5	uc001mfj.5	Q8ND30	Q8ND30	OTTHUMG00000165617	OTTHUMG00000165617	ENST00000299492.4:c.971C>T	11.37:g.7652162C>T	ENSP00000299492:p.Ser324Leu		PPFIBP2_ENST00000533792.1_Missense_Mutation_p.S166L|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.S212L|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.S181L	p.S324L	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN		Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)	11	1359	+			324		B7Z433|E9PK77|O75337|Q8WW26	Missense_Mutation	SNP	ENST00000299492.4	37	c.971C>T	CCDS31419.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	23.7	4.447333	0.84101	.	.	ENSG00000166387	ENST00000299492;ENST00000533792;ENST00000537467;ENST00000541115;ENST00000528883;ENST00000530181	T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57	6.17	5.27	0.74061	6.17	5.27	0.74061	.	0.186394	0.37669	N	0.002000	T	0.61362	0.2341	L	0.51422	1.61	0.40553	D	0.981138	B;B;B;P;B	0.34892	0.002;0.217;0.021;0.474;0.02	B;B;B;B;B	0.24394	0.001;0.038;0.006;0.053;0.003	T	0.62737	-0.6791	10	0.37606	T	0.19	0.0316	13.4735	0.61295	0.0:0.925:0.0:0.075	.	212;212;247;181;324	E9PK77;B7Z433;F5GWB0;E9PMU1;Q8ND30	.;.;.;.;LIPB2_HUMAN	L	324;166;166;247;212;181	ENSP00000299492:S324L;ENSP00000436498:S166L;ENSP00000435469:S212L;ENSP00000437321:S181L	ENSP00000299492:S324L	S	+	2	0	0	PPFIBP2	7608738	7608738	0.795000	0.28851	0.985000	0.45067	0.918000	0.54935	3.175000	0.50855	1.625000	0.50366	0.655000	0.94253	TCG		0.388	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2		56.774226	5	5	111	111	NM_003621		20	59.060116	59.060116	46	0.303030	0	0	0	1	0	20	46	0.30303
HIVEP3	59269	broad.mit.edu	37	1	42048953	42048953	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:42048953G>A	ENST00000372583.1	-	4	2401	c.1516C>T	c.(1516-1518)Cgg>Tgg	p.R506W	HIVEP3_ENST00000429157.2_Missense_Mutation_p.R506W|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R506W|HIVEP3_ENST00000372584.1_Missense_Mutation_p.R506W	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	506	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGGGGCTCCCGGTAGAGGCTG	0.632																																						ENST00000372584.1											0			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(1516-1518)Cgg>Tgg	human immunodeficiency virus type I enhancer binding protein 3						77.0	85.0	82.0					1																	42048953		2203	4300	6503	SO:0001583	missense	59269			positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42048953G>A	AF278765	AF278765	CCDS463.1, CCDS44124.1	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124	ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	"""Zinc fingers, C2H2-type"""	13561	13561	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	"""kappabinding protein-1"""	606649	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""		"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	11161801	Standard	Standard	NR_038260	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	uc001cha.4	Q5T1R4	Q5T1R4	OTTHUMG00000006361	OTTHUMG00000006361	ENST00000372583.1:c.1516C>T	1.37:g.42048953G>A	ENSP00000361664:p.Arg506Trp		HIVEP3_ENST00000372583.1_Missense_Mutation_p.R506W|HIVEP3_ENST00000429157.2_Missense_Mutation_p.R506W|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R506W	p.R506W	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			3	2530	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	506	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.1516C>T	CCDS463.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.953963	0.53293	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.21191	2.02;2.02;2.02;2.02	4.82	3.9	0.45041	4.82	3.9	0.45041	.	0.000000	0.47093	D	0.000242	T	0.37652	0.1011	L	0.47716	1.5	0.37934	D	0.932111	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.987	T	0.37641	-0.9697	10	0.72032	D	0.01	-0.7334	12.4535	0.55691	0.0:0.0:0.6413:0.3587	.	506;506	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	W	506	ENSP00000361665:R506W;ENSP00000361664:R506W;ENSP00000247584:R506W;ENSP00000410828:R506W	ENSP00000247584:R506W	R	-	1	2	2	HIVEP3	41821540	41821540	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.030000	0.49720	1.246000	0.43901	0.561000	0.74099	CGG		0.632	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1		66.633699	-18	-18	61	61	NM_024503		22	67.784457	67.784457	40	0.354839	0	0	0	1	0	22	40	0.354839
WDR59	79726	broad.mit.edu	37	16	74919625	74919625	+	Missense_Mutation	SNP	C	C	T	rs183855703	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:74919625C>T	ENST00000262144.6	-	25	2745	c.2615G>A	c.(2614-2616)cGt>cAt	p.R872H		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	872										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CAGACCCCAACGGTAGAGGAT	0.463													C|||	4	0.000798722	0.0	0.0	5008	,	,		16475	0.004		0.0	False		,,,				2504	0.0					ENST00000262144.6											0			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						c.(2614-2616)cGt>cAt	WD repeat domain 59	C	HIS/ARG	1,4395	2.1+/-5.4	0,1,2197	108.0	99.0	102.0		2615	5.4	0.9	16		102	1,8599	1.2+/-3.3	0,1,4299	no	missense	WDR59	NM_030581.3	29	0,2,6496	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	872/975	74919625	2,12994	2198	4300	6498	SO:0001583	missense	79726						g.chr16:74919625C>T	AB067510	AB067510	CCDS32488.1	CCDS32488.1	16q22.3	2013-01-09			2013-01-09				ENSG00000103091		ENSG00000103091		"""WD repeat domain containing"""	"""WD repeat domain containing"""	25706	25706	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										11572484	11572484	Standard	Standard	XM_005256146	XM_005256146		Approved	FLJ12270	uc002fdh.1	uc002fdh.1	Q6PJI9	Q6PJI9			ENST00000262144.6:c.2615G>A	16.37:g.74919625C>T	ENSP00000262144:p.Arg872His			p.R872H	NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN			25	2745	-			872		B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Missense_Mutation	SNP	ENST00000262144.6	37	c.2615G>A	CCDS32488.1	.	.	.	.	.	.	.	.	.	.	C	32	5.128763	0.94473	2.27E-4	1.16E-4	ENSG00000103091	ENST00000262144	T	0.72051	-0.62	5.36	5.36	0.76844	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.87095	0.6092	M	0.88512	2.96	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.987;0.994	D	0.89098	0.3487	10	0.66056	D	0.02	-20.5611	19.0883	0.93215	0.0:1.0:0.0:0.0	.	872;317	Q6PJI9;Q6PJI9-4	WDR59_HUMAN;.	H	872	ENSP00000262144:R872H	ENSP00000262144:R872H	R	-	2	0	0	WDR59	73477126	73477126	1.000000	0.71417	0.928000	0.36995	0.871000	0.50021	7.800000	0.85949	2.500000	0.84329	0.561000	0.74099	CGT		0.463	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3		87.526536	-27	-27	53	53	NM_030581		27	87.530663	87.530663	26	0.509434	0	0	0	1	0	27	26	0.509434
HDAC5	10014	broad.mit.edu	37	17	42162392	42162392	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:42162392C>T	ENST00000393622.2	-	15	2513	c.2182G>A	c.(2182-2184)Gag>Aag	p.E728K	HDAC5_ENST00000225983.6_Missense_Mutation_p.E729K|HDAC5_ENST00000336057.5_Intron|HDAC5_ENST00000586802.1_Missense_Mutation_p.E728K	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	728	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		TCCCTTACCTCGCACTTGCTA	0.552																																						ENST00000225983.6											0			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21						c.(2185-2187)Gag>Aag	histone deacetylase 5						76.0	69.0	71.0					17																	42162392		2203	4300	6503	SO:0001583	missense	10014			B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr17:42162392C>T	AF249731	AF249731	CCDS32663.1, CCDS45696.1	CCDS32663.1, CCDS45696.1	17q21	2008-07-18			2008-07-18							3.5.1.98			14068	14068	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605315	605315						10220385, 9610721	10220385, 9610721	Standard	Standard	XM_005256905	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	uc002iff.1	Q9UQL6	Q9UQL6			ENST00000393622.2:c.2182G>A	17.37:g.42162392C>T	ENSP00000377244:p.Glu728Lys		HDAC5_ENST00000586802.1_Missense_Mutation_p.E728K|HDAC5_ENST00000336057.5_Intron|HDAC5_ENST00000393622.2_Missense_Mutation_p.E728K	p.E729K			Q9UQL6	HDAC5_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.118)	15	2508	-		Breast(137;0.00637)|Prostate(33;0.0313)	728	Histone deacetylase.	C9JFV9|O60340|O60528|Q96DY4	Missense_Mutation	SNP	ENST00000393622.2	37	c.2185G>A	CCDS45696.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.356629	0.82243	.	.	ENSG00000108840	ENST00000225983;ENST00000393622	T;T	0.50548	0.74;0.74	5.38	5.38	0.77491	5.38	5.38	0.77491	Histone deacetylase domain (2);	0.062618	0.64402	D	0.000007	T	0.50103	0.1596	L	0.41632	1.29	0.80722	D	1	D;P;P	0.58970	0.984;0.703;0.747	P;B;B	0.52823	0.71;0.114;0.182	T	0.43310	-0.9399	10	0.38643	T	0.18	-21.0677	13.6323	0.62202	0.0:0.8445:0.1555:0.0	.	728;729;728	B4DGT4;Q9UQL6-3;Q9UQL6	.;.;HDAC5_HUMAN	K	729;728	ENSP00000225983:E729K;ENSP00000377244:E728K	ENSP00000225983:E729K	E	-	1	0	0	HDAC5	39517918	39517918	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.954000	0.70298	2.517000	0.84864	0.655000	0.94253	GAG		0.552	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1		42.440763	-6	-6	41	41	NM_001015053		14	43.018797	43.018797	24	0.368421	0	0	0	1	0	14	24	0.368421
FBXL18	80028	broad.mit.edu	37	7	5540761	5540761	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:5540761G>A	ENST00000382368.3	-	3	1262	c.1139C>T	c.(1138-1140)gCg>gTg	p.A380V	FBXL18_ENST00000453700.3_Missense_Mutation_p.A380V	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	380									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		GCAGCAGGACGCCACCAGAGT	0.687																																						ENST00000382368.3											0			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21						c.(1138-1140)gCg>gTg	F-box and leucine-rich repeat protein 18						17.0	25.0	22.0					7																	5540761		2164	4263	6427	SO:0001583	missense	80028						g.chr7:5540761G>A	AK057042	AK057042	CCDS43546.1	CCDS43546.1	7p22.2	2011-06-09			2011-06-09			ENSG00000155034	ENSG00000155034	ENSG00000155034	ENSG00000155034		"""F-boxes / Leucine-rich repeats"""	"""F-boxes / Leucine-rich repeats"""	21874	21874	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609084	609084								Standard	Standard	NM_024963	NM_024963		Approved	FLJ11467, Fbl18	uc003son.4	uc003son.4	Q96ME1	Q96ME1	OTTHUMG00000151832	OTTHUMG00000151832	ENST00000382368.3:c.1139C>T	7.37:g.5540761G>A	ENSP00000371805:p.Ala380Val		FBXL18_ENST00000453700.3_Missense_Mutation_p.A380V	p.A380V	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)	3	1262	-		Ovarian(82;0.0607)	380		Q9BR90|Q9BTC7|Q9HAK7	Missense_Mutation	SNP	ENST00000382368.3	37	c.1139C>T	CCDS43546.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.514|9.514	1.106525|1.106525	0.20632|0.20632	.|.	.|.	ENSG00000155034|ENSG00000155034	ENST00000382368;ENST00000312577;ENST00000453700|ENST00000458142	T;T|.	0.01005|.	5.45;5.45|.	5.03|5.03	-4.22|-4.22	0.03800|0.03800	5.03|5.03	-4.22|-4.22	0.03800|0.03800	.|.	0.825130|.	0.11372|.	N|.	0.570784|.	T|T	0.09905|0.09905	0.0243|0.0243	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|.	0.12630|.	0.006;0.001|.	B;B|.	0.06405|.	0.002;0.001|.	T|T	0.27191|0.27191	-1.0081|-1.0081	10|5	0.30854|.	T|.	0.27|.	.|.	0.8005|0.8005	0.01074|0.01074	0.3835:0.1244:0.2651:0.227|0.3835:0.1244:0.2651:0.227	.|.	380;380|.	F5H4Z4;Q96ME1-4|.	.;.|.	V|C	380|264	ENSP00000371805:A380V;ENSP00000444797:A380V|.	ENSP00000311990:A380V|.	A|R	-|-	2|1	0|0	0|0	FBXL18|FBXL18	5507287|5507287	5507287|5507287	0.000000|0.000000	0.05858|0.05858	0.117000|0.117000	0.21633|0.21633	0.991000|0.991000	0.79684|0.79684	-0.072000|-0.072000	0.11486|0.11486	-0.613000|-0.613000	0.05694|0.05694	-0.482000|-0.482000	0.04802|0.04802	GCG|CGT		0.687	FBXL18-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324093.1		49.834208	2	2	45	45	NM_024963		18	49.858844	49.858844	16	0.529412	0	0	0	1	0	18	16	0.529412
CYP2A13	1553	broad.mit.edu	37	19	41594843	41594843	+	Missense_Mutation	SNP	C	C	T	rs72547586	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:41594843C>T	ENST00000330436.3	+	2	190	c.190C>T	c.(190-192)Cgc>Tgc	p.R64C		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	64					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	GATCAGTGAGCGCTATGGCCC	0.612																																						ENST00000330436.3											0			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42						c.(190-192)Cgc>Tgc	cytochrome P450, family 2, subfamily A, polypeptide 13						84.0	77.0	80.0					19																	41594843		2203	4300	6503	SO:0001583	missense	1553			xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	g.chr19:41594843C>T	U22028	U22028	CCDS12571.1	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838	ENSG00000197838	ENSG00000197838		"""Cytochrome P450s"""	"""Cytochrome P450s"""	2608	2608	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608055	608055	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"""		"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"""			7668294, 15128046	7668294, 15128046	Standard	Standard	NM_000766	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	uc002opt.4	Q16696	Q16696	OTTHUMG00000182762	OTTHUMG00000182762	ENST00000330436.3:c.190C>T	19.37:g.41594843C>T	ENSP00000332679:p.Arg64Cys			p.R64C	NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN			2	190	+			64		Q53YR8|Q6R569|Q6R570|Q9H2X2	Missense_Mutation	SNP	ENST00000330436.3	37	c.190C>T	CCDS12571.1	.	.	.	.	.	.	.	.	.	.	.	12.17	1.857060	0.32791	.	.	ENSG00000197838	ENST00000330436	T	0.69435	-0.4	3.49	2.34	0.29019	3.49	2.34	0.29019	.	0.527792	0.16699	U	0.203231	T	0.61961	0.2389	M	0.69185	2.1	0.09310	N	1	B	0.19073	0.033	B	0.16722	0.016	T	0.59500	-0.7443	10	0.59425	D	0.04	.	9.8633	0.41127	0.3098:0.6902:0.0:0.0	.	64	Q16696	CP2AD_HUMAN	C	64	ENSP00000332679:R64C	ENSP00000332679:R64C	R	+	1	0	0	CYP2A13	46286683	46286683	0.000000	0.05858	0.575000	0.28536	0.381000	0.30169	-0.327000	0.07955	1.965000	0.57142	0.444000	0.29173	CGC		0.612	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1		7.049305	-23	-23	60	60	NM_000766		6	14.593958	14.593958	46	0.115385	0	0	0	1	0	6	46	0.115385
ARHGEF15	22899	broad.mit.edu	37	17	8221893	8221893	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:8221893C>T	ENST00000361926.3	+	11	1895	c.1785C>T	c.(1783-1785)atC>atT	p.I595I	AC135178.7_ENST00000458568.1_RNA|ARHGEF15_ENST00000421050.1_Silent_p.I595I	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	595	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.I595I(2)		breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CCTAGATCATCGAGCGTTGCA	0.597																																						ENST00000361926.3											2	Substitution - coding silent(2)	lung(2)	breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(1783-1785)atC>atT	Rho guanine nucleotide exchange factor (GEF) 15						59.0	59.0	59.0					17																	8221893		2203	4300	6503	SO:0001819	synonymous_variant	22899			negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8221893C>T	AB020722	AB020722	CCDS11139.1	CCDS11139.1	17p13.1	2011-11-16			2011-11-16			ENSG00000198844	ENSG00000198844	ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	"""Rho guanine nucleotide exchange factors"""	15590	15590	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	"""Rho guanine exchange factor (GEF) 15"""	608504	608504						10048485	10048485	Standard	Standard	NM_173728	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	uc002glc.3	O94989	O94989	OTTHUMG00000108187	OTTHUMG00000108187	ENST00000361926.3:c.1785C>T	17.37:g.8221893C>T			ARHGEF15_ENST00000421050.1_Silent_p.I595I|AC135178.7_ENST00000458568.1_RNA	p.I595I	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN			11	1895	+			595	DH.	A8K6G1|Q8N449|Q9H8B4	Silent	SNP	ENST00000361926.3	37	c.1785C>T	CCDS11139.1																																																																																									0.597	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2		25.601762	-22	-22	27	27	NM_173728		8	25.664104	25.664104	6	0.571429	0	0	0	1	0	8	6	0.571429
YPEL1	29799	broad.mit.edu	37	22	22057670	22057670	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr22:22057670C>T	ENST00000339468.3	-	4	642	c.259G>A	c.(259-261)Ggg>Agg	p.G87R		NM_013313.3	NP_037445.1	O60688	YPEL1_HUMAN	yippee-like 1 (Drosophila)	87						nucleus (GO:0005634)				breast(1)|large_intestine(1)|lung(1)	3	Colorectal(54;0.105)					TATTTCCACCCGAGCGTGGTC	0.622																																						ENST00000339468.3											0			breast(1)|large_intestine(1)|lung(1)	3						c.(259-261)Ggg>Agg	yippee-like 1 (Drosophila)						148.0	116.0	127.0					22																	22057670		2203	4300	6503	SO:0001583	missense	29799				nucleus		g.chr22:22057670C>T	AF060862	AF060862	CCDS13794.1	CCDS13794.1	22q11.2	2008-02-04	2001-11-28		2008-02-04	2001-11-28		ENSG00000100027	ENSG00000100027	ENSG00000100027	ENSG00000100027				12845	12845	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608082	608082	"""yippee (Drosophila) homolog-like 1"""		"""yippee (Drosophila) homolog-like 1"""			11473580	11473580	Standard	Standard	NM_013313	NM_013313		Approved		uc002zvl.3	uc002zvl.3	O60688	O60688	OTTHUMG00000150830	OTTHUMG00000150830	ENST00000339468.3:c.259G>A	22.37:g.22057670C>T	ENSP00000342832:p.Gly87Arg			p.G87R	NM_013313.3	NP_037445.1	O60688	YPEL1_HUMAN			4	642	-	Colorectal(54;0.105)		87		Q65ZA1|Q6GLI6	Missense_Mutation	SNP	ENST00000339468.3	37	c.259G>A	CCDS13794.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.984089	0.93044	.	.	ENSG00000100027	ENST00000339468	.	.	.	4.06	4.06	0.47325	4.06	4.06	0.47325	.	0.000000	0.85682	D	0.000000	D	0.89774	0.6812	H	0.97516	4.02	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93527	0.6866	9	0.87932	D	0	.	17.6172	0.88071	0.0:1.0:0.0:0.0	.	87	O60688	YPEL1_HUMAN	R	87	.	ENSP00000342832:G87R	G	-	1	0	0	YPEL1	20387670	20387670	1.000000	0.71417	0.999000	0.59377	0.718000	0.41266	7.650000	0.83521	2.574000	0.86865	0.558000	0.71614	GGG		0.622	YPEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320245.1		89.530416	-17	-17	60	60	NM_013313		27	89.693654	89.693654	21	0.562500	0	0	0	1	0	27	21	0.5625
MAP2K3	5606	broad.mit.edu	37	17	21201792	21201792	+	Splice_Site	SNP	G	G	A	rs368105298		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:21201792G>A	ENST00000342679.4	+	2	365		c.e2+1		MAP2K3_ENST00000361818.5_Splice_Site|MAP2K3_ENST00000316920.6_Splice_Site	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3						activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CCAACCCCACGTGAGTCTGCC	0.577																																						ENST00000342679.4											0										c.e2+1	mitogen-activated protein kinase kinase 3	G	,	1,4405		0,1,2202	202.0	174.0	183.0		,	5.7	1.0	17		183	0,8600		0,0,4300	no	splice-5,splice-5	MAP2K3	NM_002756.4,NM_145109.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	,	21201792	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	5606			activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:21201792G>A	L36719	L36719	CCDS11217.1, CCDS11218.1	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			2011-06-09			ENSG00000034152	ENSG00000034152	ENSG00000034152	ENSG00000034152		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6843	6843	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""MAPK/ERK kinase 3"", ""MAP kinase kinase 3"", ""dual specificity mitogen activated protein kinase kinase 3"""	"""MAPK/ERK kinase 3"", ""MAP kinase kinase 3"", ""dual specificity mitogen activated protein kinase kinase 3"""	602315	602315		PRKMK3		PRKMK3		9465908	9465908	Standard	Standard	NM_145109	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	uc002gys.3	P46734	P46734	OTTHUMG00000134322	OTTHUMG00000134322	ENST00000342679.4:c.116+1G>A	17.37:g.21201792G>A			MAP2K3_ENST00000316920.6_Splice_Site|MAP2K3_ENST00000361818.5_Splice_Site		NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN		COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)	2	365	+					B3KSK7|Q99441|Q9UE71|Q9UE72	Splice_Site	SNP	ENST00000342679.4	37		CCDS11217.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.353219	0.82132	2.27E-4	0.0	ENSG00000034152	ENST00000342679;ENST00000395491;ENST00000361818;ENST00000526076;ENST00000316920	.	.	.	5.67	5.67	0.87782	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8621	0.86021	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	MAP2K3	21142385	21142385	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.020000	0.49643	2.837000	0.97791	0.655000	0.94253	.		0.577	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2		36.877828	-53	-53	148	148	NM_145109	Intron	18	46.325124	46.325124	81	0.181818	0	0	0	1	0	18	81	0.181818
ATP2C2	9914	broad.mit.edu	37	16	84482210	84482210	+	Silent	SNP	C	C	T	rs577350687		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:84482210C>T	ENST00000262429.4	+	17	1664	c.1575C>T	c.(1573-1575)aaC>aaT	p.N525N	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000416219.2_Silent_p.N525N	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	525					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						TGTACAACAACGGGGGCATCC	0.552																																						ENST00000416219.2											0			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						c.(1573-1575)aaC>aaT	ATPase, Ca++ transporting, type 2C, member 2						78.0	88.0	84.0					16																	84482210		1995	4146	6141	SO:0001819	synonymous_variant	9914			ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr16:84482210C>T	AK091051	AK091051	CCDS42207.1, CCDS67088.1	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			2010-04-20			ENSG00000064270	ENSG00000064270	ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	"""ATPases / P-type"""	29103	29103	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	"""secretory pathway calcium ATPase 2"""	613082	613082						9734811	9734811	Standard	Standard	XM_006721355	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	uc002fhx.3	O75185	O75185			ENST00000262429.4:c.1575C>T	16.37:g.84482210C>T			ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Silent_p.N525N	p.N525N			O75185	AT2C2_HUMAN			17	1664	+			525		B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Silent	SNP	ENST00000262429.4	37	c.1575C>T	CCDS42207.1																																																																																									0.552	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1		53.308420	-15	-15	80	80	NM_014861		19	54.138082	54.138082	33	0.365385	0	0	0	1	0	19	33	0.365385
PSMF1	9491	broad.mit.edu	37	20	1143802	1143802	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr20:1143802G>A	ENST00000335877.6	+	5	756	c.580G>A	c.(580-582)Ggg>Agg	p.G194R	PSMF1_ENST00000246015.4_Missense_Mutation_p.G194R|PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000381898.4_Missense_Mutation_p.G106R|PSMF1_ENST00000333082.3_Missense_Mutation_p.G194R|PSMF1_ENST00000438768.2_Missense_Mutation_p.G132R	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	194	Pro-rich.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteasomal protein catabolic process (GO:1901799)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome core complex (GO:0005839)	endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						GTTTGTTGTCGGGGGAGAAGA	0.507																																						ENST00000335877.6											0			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						c.(580-582)Ggg>Agg	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)						154.0	108.0	123.0					20																	1143802		2203	4300	6503	SO:0001583	missense	9491			anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome core complex	endopeptidase inhibitor activity|protein binding	g.chr20:1143802G>A	D88378	D88378	CCDS13010.1	CCDS13010.1	20p13	2008-07-02			2008-07-02			ENSG00000125818	ENSG00000125818	ENSG00000125818	ENSG00000125818		"""Proteasome (prosome, macropain) subunits"""	"""Proteasome (prosome, macropain) subunits"""	9571	9571	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""proteasome inhibitor hP131 subunit"""	"""proteasome inhibitor hP131 subunit"""								10363639	10363639	Standard	Standard	NM_006814	NM_006814		Approved	PI31	uc002wen.4	uc002wen.4	Q92530	Q92530	OTTHUMG00000031656	OTTHUMG00000031656	ENST00000335877.6:c.580G>A	20.37:g.1143802G>A	ENSP00000338039:p.Gly194Arg		PSMF1_ENST00000333082.3_Missense_Mutation_p.G194R|PSMF1_ENST00000438768.2_Missense_Mutation_p.G132R|PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000381898.4_Missense_Mutation_p.G106R|PSMF1_ENST00000246015.4_Missense_Mutation_p.G194R	p.G194R	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN			5	756	+			194	Pro-rich.	A0AVQ9|D3DVW3|Q9H4I1	Missense_Mutation	SNP	ENST00000335877.6	37	c.580G>A	CCDS13010.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.940451	0.92526	.	.	ENSG00000125818	ENST00000333082;ENST00000381898;ENST00000246015;ENST00000335877;ENST00000438768	T;D;T;T;T	0.82893	-0.31;-1.66;-0.57;-0.31;-0.62	5.26	5.26	0.73747	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.92648	0.7664	M	0.89904	3.07	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.93658	0.6979	10	0.72032	D	0.01	-15.2157	16.8273	0.85934	0.0:0.0:1.0:0.0	.	132;106;106;194;194	E7ER20;F5H4Z3;B4DUJ0;Q5QPM7;Q92530	.;.;.;.;PSMF1_HUMAN	R	194;106;194;194;132	ENSP00000327704:G194R;ENSP00000371323:G106R;ENSP00000246015:G194R;ENSP00000338039:G194R;ENSP00000401404:G132R	ENSP00000246015:G194R	G	+	1	0	0	PSMF1	1091802	1091802	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.897000	0.87356	2.735000	0.93741	0.561000	0.74099	GGG		0.507	PSMF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077504.2		43.277950	-6	-6	49	49	NM_178578		13	43.314368	43.314368	11	0.541667	0	0	0	1	0	13	11	0.541667
DPEP2	64174	broad.mit.edu	37	16	68026047	68026047	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:68026047C>T	ENST00000572888.1	-	3	1090	c.440G>A	c.(439-441)cGc>cAc	p.R147H	DPEP2_ENST00000393847.1_Missense_Mutation_p.R147H|DPEP2_ENST00000412757.2_Missense_Mutation_p.R147H			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	147					arachidonic acid metabolic process (GO:0019369)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		CAGGGTGAGGCGCAGGGCATC	0.602																																						ENST00000412757.2											0			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17						c.(439-441)cGc>cAc	dipeptidase 2						111.0	104.0	106.0					16																	68026047		2198	4300	6498	SO:0001583	missense	64174			hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	g.chr16:68026047C>T	AJ295149	AJ295149	CCDS10857.1	CCDS10857.1	16q22.1	2011-07-22			2011-07-22			ENSG00000167261	ENSG00000167261	ENSG00000167261	ENSG00000167261	3.4.13.19			23028	23028	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609925	609925								Standard	Standard	NM_022355	NM_022355		Approved		uc002eve.4	uc002eve.4	Q9H4A9	Q9H4A9	OTTHUMG00000137542	OTTHUMG00000137542	ENST00000572888.1:c.440G>A	16.37:g.68026047C>T	ENSP00000458977:p.Arg147His		DPEP2_ENST00000393847.1_Missense_Mutation_p.R147H|DPEP2_ENST00000572888.1_Missense_Mutation_p.R147H	p.R147H			Q9H4A9	DPEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)	5	1105	-		Ovarian(137;0.192)	147		B2RCF8|Q6UX92|Q8TC95	Missense_Mutation	SNP	ENST00000572888.1	37	c.440G>A	CCDS10857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.6|21.6	4.166270|4.166270	0.78339|0.78339	.|.	.|.	ENSG00000167261|ENSG00000167261	ENST00000268795|ENST00000393847;ENST00000412757;ENST00000322384	.|T;T	.|0.24151	.|1.87;1.87	4.77|4.77	2.64|2.64	0.31445|0.31445	4.77|4.77	2.64|2.64	0.31445|0.31445	.|.	.|0.187643	.|0.41712	.|N	.|0.000825	T|T	0.45617|0.45617	0.1351|0.1351	M|M	0.75150|0.75150	2.29|2.29	0.80722|0.80722	D|D	1|1	P|D;D	0.46952|0.89917	0.887|1.0;1.0	B|D;D	0.35240|0.91635	0.198|0.999;0.998	T|T	0.43988|0.43988	-0.9357|-0.9357	8|10	0.87932|0.87932	D|D	0|0	-18.7858|-18.7858	7.5897|7.5897	0.28015|0.28015	0.0:0.7378:0.168:0.0942|0.0:0.7378:0.168:0.0942	.|.	105|147;60	B4DNP7|Q9H4A9;Q9H4A9-2	.|DPEP2_HUMAN;.	T|H	105|147;147;60	.|ENSP00000377430:R147H;ENSP00000412549:R147H	ENSP00000268795:A105T|ENSP00000314702:R60H	A|R	-|-	1|2	0|0	0|0	DPEP2|DPEP2	66583548|66583548	66583548|66583548	0.402000|0.402000	0.25311|0.25311	1.000000|1.000000	0.80357|0.80357	0.820000|0.820000	0.46376|0.46376	0.055000|0.055000	0.14229|0.14229	1.337000|1.337000	0.45525|0.45525	0.561000|0.561000	0.74099|0.74099	GCC|CGC		0.602	DPEP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437026.1		81.552107	-10	-10	78	78	NM_022355		26	81.624494	81.624494	22	0.541667	0	0	0	1	0	26	22	0.541667
PLEC	5339	broad.mit.edu	37	8	144990788	144990788	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr8:144990788C>T	ENST00000322810.4	-	32	13781	c.13612G>A	c.(13612-13614)Gac>Aac	p.D4538N	PLEC_ENST00000356346.3_Missense_Mutation_p.D4387N|PLEC_ENST00000398774.2_Missense_Mutation_p.D4369N|PLEC_ENST00000354958.2_Missense_Mutation_p.D4379N|PLEC_ENST00000357649.2_Missense_Mutation_p.D4405N|PLEC_ENST00000345136.3_Missense_Mutation_p.D4401N|PLEC_ENST00000436759.2_Missense_Mutation_p.D4428N|PLEC_ENST00000354589.3_Missense_Mutation_p.D4401N|PLEC_ENST00000527096.1_Missense_Mutation_p.D4424N	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4538	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCCGGCGTGTCGGGCTCGATC	0.706																																						ENST00000322810.4											0			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(13612-13614)Gac>Aac	plectin						19.0	23.0	22.0					8																	144990788		1924	4095	6019	SO:0001583	missense	5339			cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144990788C>T	U53204	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209	ENSG00000178209	ENSG00000178209				9069	9069	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601282	601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	8633055, 8696340	Standard	Standard	XM_005250976	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	uc003zaf.1	Q15149	Q15149	OTTHUMG00000165291	OTTHUMG00000165291	ENST00000322810.4:c.13612G>A	8.37:g.144990788C>T	ENSP00000323856:p.Asp4538Asn		PLEC_ENST00000357649.2_Missense_Mutation_p.D4405N|PLEC_ENST00000356346.3_Missense_Mutation_p.D4387N|PLEC_ENST00000527096.1_Missense_Mutation_p.D4424N|PLEC_ENST00000354958.2_Missense_Mutation_p.D4379N|PLEC_ENST00000436759.2_Missense_Mutation_p.D4428N|PLEC_ENST00000398774.2_Missense_Mutation_p.D4369N|PLEC_ENST00000354589.3_Missense_Mutation_p.D4401N|PLEC_ENST00000345136.3_Missense_Mutation_p.D4401N	p.D4538N	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	13781	-			4538	Globular 2.	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.13612G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	7.445	0.641434	0.14451	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62	5.05	4.18	0.49190	5.05	4.18	0.49190	.	0.077468	0.48286	U	0.000197	T	0.54565	0.1866	N	0.05534	-0.03	0.47819	D	0.999521	P;P;P;P;P;P;P;P	0.46578	0.854;0.854;0.854;0.88;0.854;0.854;0.854;0.854	B;B;B;B;B;B;B;B	0.43889	0.213;0.213;0.213;0.435;0.213;0.308;0.213;0.213	T	0.63994	-0.6511	10	0.72032	D	0.01	.	13.5481	0.61715	0.0:0.9238:0.0:0.0762	.	4428;4387;4379;4538;4369;4401;4405;4401	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	N	4401;4405;4401;4369;4538;4379;4387;4428;4424	ENSP00000344848:D4401N;ENSP00000350277:D4405N;ENSP00000346602:D4401N;ENSP00000381756:D4369N;ENSP00000323856:D4538N;ENSP00000347044:D4379N;ENSP00000348702:D4387N;ENSP00000388180:D4428N;ENSP00000434583:D4424N	ENSP00000323856:D4538N	D	-	1	0	0	PLEC	145062776	145062776	1.000000	0.71417	0.109000	0.21407	0.064000	0.16182	5.880000	0.69698	1.340000	0.45581	0.643000	0.83706	GAC		0.706	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1		51.975494	-21	-21	53	53	NM_000445		17	51.975494	51.975494	17	0.500000	0	0	0	1	0	17	17	0.5
PRPF8	10594	broad.mit.edu	37	17	1559772	1559772	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:1559772C>T	ENST00000572621.1	-	35	5972	c.5707G>A	c.(5707-5709)Ggg>Agg	p.G1903R	PRPF8_ENST00000304992.6_Missense_Mutation_p.G1903R|PRPF8_ENST00000575116.1_5'Flank			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1903	Involved in interaction with pre-mRNA 5' splice site.|RNase H homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		ATGAGATCCCCGAATTTTTCC	0.483																																						ENST00000572621.1											0			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(5707-5709)Ggg>Agg	pre-mRNA processing factor 8						118.0	114.0	115.0					17																	1559772		2203	4300	6503	SO:0001583	missense	10594				catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1559772C>T	AB007510	AB007510	CCDS11010.1	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231	ENSG00000174231	ENSG00000174231				17340	17340	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607300	607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	11468273, 10411133	Standard	Standard	NM_006445	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	uc002fte.3	Q6P2Q9	Q6P2Q9	OTTHUMG00000090553	OTTHUMG00000090553	ENST00000572621.1:c.5707G>A	17.37:g.1559772C>T	ENSP00000460348:p.Gly1903Arg		PRPF8_ENST00000304992.6_Missense_Mutation_p.G1903R	p.G1903R			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	35	5972	-			1903	Involved in interaction with pre-mRNA 5' splice site.	O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.5707G>A	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	c	32	5.127265	0.94473	.	.	ENSG00000174231	ENST00000304992;ENST00000540177	T	0.81330	-1.48	5.62	5.62	0.85841	5.62	5.62	0.85841	PRP8 domain IV core (1);	0.000000	0.85682	D	0.000000	D	0.90868	0.7131	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91144	0.4948	10	0.59425	D	0.04	-13.6657	19.645	0.95773	0.0:1.0:0.0:0.0	.	1903	Q6P2Q9	PRP8_HUMAN	R	1903;428	ENSP00000304350:G1903R	ENSP00000304350:G1903R	G	-	1	0	0	PRPF8	1506522	1506522	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.818000	0.86416	2.647000	0.89833	0.655000	0.94253	GGG		0.483	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2		29.999430	-12	-12	78	78			13	35.804379	35.804379	54	0.194030	0	0	0	1	0	13	54	0.19403
TTC37	9652	broad.mit.edu	37	5	94858978	94858978	+	Missense_Mutation	SNP	G	G	A	rs143193581	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:94858978G>A	ENST00000358746.2	-	18	1983	c.1685C>T	c.(1684-1686)aCg>aTg	p.T562M	RNU6-308P_ENST00000390957.1_RNA	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	562						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						CCATTTTGCCGTTCCAGCACT	0.358																																						ENST00000358746.2											0			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						c.(1684-1686)aCg>aTg	tetratricopeptide repeat domain 37	G	MET/THR	2,4404	4.2+/-10.8	0,2,2201	200.0	196.0	197.0		1685	4.9	1.0	5	dbSNP_134	197	0,8600		0,0,4300	no	missense	TTC37	NM_014639.3	81	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	562/1565	94858978	2,13004	2203	4300	6503	SO:0001583	missense	9652					binding	g.chr5:94858978G>A	AB002370	AB002370	CCDS4072.1	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	"""Tetratricopeptide (TTC) repeat domain containing"""	23639	23639	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614589	614589	"""KIAA0372"""	KIAA0372	"""KIAA0372"""	KIAA0372		9205841	9205841	Standard	Standard	NM_014639	NM_014639		Approved		uc003klb.3	uc003klb.3	Q6PGP7	Q6PGP7	OTTHUMG00000121165	OTTHUMG00000121165	ENST00000358746.2:c.1685C>T	5.37:g.94858978G>A	ENSP00000351596:p.Thr562Met			p.T562M	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN			18	1983	-			562		O15077|Q6PJI3	Missense_Mutation	SNP	ENST00000358746.2	37	c.1685C>T	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138036	0.77775	4.54E-4	0.0	ENSG00000198677	ENST00000358746;ENST00000514952	T;T	0.76060	0.71;-0.99	4.88	4.88	0.63580	4.88	4.88	0.63580	Tetratricopeptide repeat-containing (1);	0.207799	0.42964	D	0.000623	T	0.73305	0.3570	L	0.29908	0.895	0.28657	N	0.906322	D;D	0.55385	0.971;0.959	P;P	0.53722	0.733;0.564	T	0.70178	-0.4943	10	0.51188	T	0.08	.	14.8409	0.70223	0.0:0.1444:0.8556:0.0	.	514;562	D6RCE2;Q6PGP7	.;TTC37_HUMAN	M	562;514	ENSP00000351596:T562M;ENSP00000423742:T514M	ENSP00000351596:T562M	T	-	2	0	0	TTC37	94884734	94884734	0.984000	0.35163	0.967000	0.41034	0.975000	0.68041	3.518000	0.53451	2.402000	0.81655	0.557000	0.71058	ACG		0.358	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1		223.034262	-8	-8	238	238	NM_014639		70	223.434575	223.434575	87	0.445860	0	0	0	1	0	70	87	0.44586
TOMM40	10452	broad.mit.edu	37	19	45404590	45404590	+	Intron	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:45404590G>A	ENST00000426677.2	+	8	1126				TOMM40_ENST00000592434.1_Silent_p.T323T|TOMM40_ENST00000405636.2_Intron|TOMM40_ENST00000252487.5_Intron	NM_001128917.1	NP_001122389.1	O96008	TOM40_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)						cellular protein metabolic process (GO:0044267)|ion transport (GO:0006811)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane translocase complex (GO:0005742)|pore complex (GO:0046930)	porin activity (GO:0015288)|protein transmembrane transporter activity (GO:0008320)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5	Lung NSC(12;0.0018)|all_lung(12;0.00481)			OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176)		GTTCCCCTACGCGGGAAACAG	0.602																																						ENST00000592434.1											0			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5						c.(967-969)acG>acA	translocase of outer mitochondrial membrane 40 homolog (yeast)						31.0	26.0	28.0					19																	45404590		2203	4300	6503	SO:0001627	intron_variant	10452			protein targeting to mitochondrion	integral to membrane of membrane fraction|integral to mitochondrial outer membrane|mitochondrial outer membrane translocase complex|pore complex	porin activity|protein transmembrane transporter activity|voltage-gated anion channel activity	g.chr19:45404590G>A	AF043250	AF043250	CCDS12646.1	CCDS12646.1	19q13	2008-07-04			2008-07-04				ENSG00000130204		ENSG00000130204				18001	18001	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608061	608061						10980201, 15644312	10980201, 15644312	Standard	Standard	NM_006114	NM_006114		Approved	PEREC1, D19S1177E, C19orf1, TOM40, PER-EC1	uc002paa.4	uc002paa.4	O96008	O96008			ENST00000426677.2:c.946+23G>A	19.37:g.45404590G>A			TOMM40_ENST00000426677.2_Intron|TOMM40_ENST00000252487.5_Intron|TOMM40_ENST00000405636.2_Intron	p.T323T			O96008	TOM40_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176)	9	1062	+	Lung NSC(12;0.0018)|all_lung(12;0.00481)		0		Q86VW4|Q8WY09|Q8WY10|Q8WY11|Q9BR95	Silent	SNP	ENST00000426677.2	37	c.969G>A	CCDS12646.1																																																																																									0.602	TOMM40-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453241.1		11.496197	-1	-1	9	9			4	11.791306	11.791306	8	0.333333	0	0	0	1	0	4	8	0.333333
HDAC5	10014	broad.mit.edu	37	17	42171083	42171083	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:42171083G>A	ENST00000393622.2	-	4	545	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W	HDAC5_ENST00000225983.6_Missense_Mutation_p.R73W|HDAC5_ENST00000336057.5_Missense_Mutation_p.R72W|HDAC5_ENST00000586802.1_Missense_Mutation_p.R72W	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	72					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		tgctgctcccgcAGTGTGGGG	0.652																																						ENST00000225983.6											0			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21						c.(217-219)Cgg>Tgg	histone deacetylase 5						12.0	13.0	13.0					17																	42171083		2200	4298	6498	SO:0001583	missense	10014			B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr17:42171083G>A	AF249731	AF249731	CCDS32663.1, CCDS45696.1	CCDS32663.1, CCDS45696.1	17q21	2008-07-18			2008-07-18							3.5.1.98			14068	14068	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605315	605315						10220385, 9610721	10220385, 9610721	Standard	Standard	XM_005256905	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	uc002iff.1	Q9UQL6	Q9UQL6			ENST00000393622.2:c.214C>T	17.37:g.42171083G>A	ENSP00000377244:p.Arg72Trp		HDAC5_ENST00000586802.1_Missense_Mutation_p.R72W|HDAC5_ENST00000336057.5_Missense_Mutation_p.R72W|HDAC5_ENST00000393622.2_Missense_Mutation_p.R72W	p.R73W			Q9UQL6	HDAC5_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.118)	4	540	-		Breast(137;0.00637)|Prostate(33;0.0313)	72		C9JFV9|O60340|O60528|Q96DY4	Missense_Mutation	SNP	ENST00000393622.2	37	c.217C>T	CCDS45696.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.804943	0.50315	.	.	ENSG00000108840	ENST00000225983;ENST00000393622;ENST00000336057	T;T;T	0.50813	0.77;0.77;0.73	4.16	3.17	0.36434	4.16	3.17	0.36434	Histone deacetylase, glutamine rich N-terminal domain (1);	0.000000	0.64402	D	0.000014	T	0.53642	0.1809	L	0.28115	0.83	0.50632	D	0.999886	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.994;0.996;0.994;0.996	T	0.56013	-0.8049	10	0.87932	D	0	-16.6272	11.918	0.52776	0.0:0.0:0.8236:0.1763	.	72;72;73;72	Q9UQL6-2;B4DGT4;Q9UQL6-3;Q9UQL6	.;.;.;HDAC5_HUMAN	W	73;72;72	ENSP00000225983:R73W;ENSP00000377244:R72W;ENSP00000337290:R72W	ENSP00000225983:R73W	R	-	1	2	2	HDAC5	39526609	39526609	1.000000	0.71417	0.820000	0.32676	0.872000	0.50106	3.192000	0.50989	0.704000	0.31869	0.462000	0.41574	CGG		0.652	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1		7.518541	4	4	14	14	NM_001015053		3	8.381823	8.381823	10	0.230769	0	0	0	1	0	3	10	0.230769
ATP6AP1L	92270	broad.mit.edu	37	5	81608483	81608483	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:81608483G>A	ENST00000380167.4	+	9	1510	c.185G>A	c.(184-186)cGc>cAc	p.R62H	ATP6AP1L_ENST00000439350.1_Missense_Mutation_p.R62H|ATP6AP1L_ENST00000508366.1_3'UTR			Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1-like	62					ATP hydrolysis coupled proton transport (GO:0015991)	integral component of membrane (GO:0016021)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						TTTAGTTTGCGCCGAGTCGAG	0.438											OREG0016689	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000380167.4											0			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						c.(184-186)cGc>cAc	ATPase, H+ transporting, lysosomal accessory protein 1-like						196.0	190.0	192.0					5																	81608483		2203	4300	6503	SO:0001583	missense	92270			ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr5:81608483G>A	AK022625	AK022625	CCDS34196.1	CCDS34196.1	5q14.2	2010-03-10			2010-03-10				ENSG00000205464		ENSG00000205464				28091	28091	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	XR_112744	XR_112744		Approved		uc003khw.3	uc003khw.3	Q52LC2	Q52LC2			ENST00000380167.4:c.185G>A	5.37:g.81608483G>A	ENSP00000369513:p.Arg62His	1207	ATP6AP1L_ENST00000439350.1_Missense_Mutation_p.R62H|ATP6AP1L_ENST00000508366.1_3'UTR	p.R62H			Q52LC2	VAS1L_HUMAN			9	1510	+			62			Missense_Mutation	SNP	ENST00000380167.4	37	c.185G>A	CCDS34196.1	.	.	.	.	.	.	.	.	.	.	G	5.379	0.255166	0.10185	.	.	ENSG00000205464	ENST00000380167;ENST00000439350	.	.	.	5.68	3.32	0.38043	5.68	3.32	0.38043	.	0.340897	0.31685	N	0.007234	T	0.16171	0.0389	N	0.01464	-0.85	0.29384	N	0.863128	B	0.02656	0.0	B	0.01281	0.0	T	0.15607	-1.0431	9	0.11182	T	0.66	.	13.2407	0.59995	0.9309:0.0:0.0691:0.0	.	62	Q52LC2	VAS1L_HUMAN	H	62	.	ENSP00000369513:R62H	R	+	2	0	0	ATP6AP1L	81644239	81644239	1.000000	0.71417	0.565000	0.28409	0.001000	0.01503	3.980000	0.56895	0.440000	0.26502	-1.074000	0.02243	CGC		0.438	ATP6AP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369562.3		-14.181744	-31	-31	106	106	NM_001017971		4	7.494964	7.494964	92	0.041667	0	0	0	1	0	4	92	0.041667
TAF1C	9013	broad.mit.edu	37	16	84212998	84212998	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:84212998C>T	ENST00000567759.1	-	14	2341	c.2159G>A	c.(2158-2160)cGc>cAc	p.R720H	TAF1C_ENST00000566732.1_Missense_Mutation_p.R694H|TAF1C_ENST00000378541.4_Missense_Mutation_p.R720H|TAF1C_ENST00000341690.6_Missense_Mutation_p.R626H|TAF1C_ENST00000570117.1_Missense_Mutation_p.R388H|TAF1C_ENST00000541676.1_Missense_Mutation_p.R627H	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	720					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						TTCCCCCAGGCGCTCACTGAG	0.726																																						ENST00000567759.1											0			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						c.(2158-2160)cGc>cAc	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa						20.0	23.0	22.0					16																	84212998		2199	4291	6490	SO:0001583	missense	9013			regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding	g.chr16:84212998C>T	L39059	L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29		2008-02-05	2002-08-29			ENSG00000103168		ENSG00000103168				11534	11534	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604905	604905	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"""		"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"""			7801123	7801123	Standard	Standard	NM_005679	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	uc010vnx.2	Q15572	Q15572			ENST00000567759.1:c.2159G>A	16.37:g.84212998C>T	ENSP00000455265:p.Arg720His		TAF1C_ENST00000341690.6_Missense_Mutation_p.R626H|TAF1C_ENST00000566732.1_Missense_Mutation_p.R694H|TAF1C_ENST00000570117.1_Missense_Mutation_p.R388H|TAF1C_ENST00000378541.4_Missense_Mutation_p.R720H|TAF1C_ENST00000541676.1_Missense_Mutation_p.R627H	p.R720H	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN			14	2341	-			720		B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Missense_Mutation	SNP	ENST00000567759.1	37	c.2159G>A	CCDS32496.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.493965	0.84962	.	.	ENSG00000103168	ENST00000378541;ENST00000541676;ENST00000341690;ENST00000544090	T;T;T	0.02682	4.2;4.2;4.2	5.14	5.14	0.70334	5.14	5.14	0.70334	.	0.000000	0.64402	D	0.000006	T	0.13884	0.0336	M	0.72118	2.19	0.37624	D	0.921407	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.995;0.996;0.998;0.989	T	0.00611	-1.1645	10	0.87932	D	0	-17.1242	14.0909	0.64990	0.0:1.0:0.0:0.0	.	694;243;720;626	Q15572-6;F5H0H4;Q15572;Q15572-2	.;.;TAF1C_HUMAN;.	H	720;627;626;243	ENSP00000367802:R720H;ENSP00000437900:R627H;ENSP00000345305:R626H	ENSP00000345305:R626H	R	-	2	0	0	TAF1C	82770499	82770499	0.002000	0.14202	0.440000	0.26846	0.858000	0.48976	0.384000	0.20668	2.390000	0.81377	0.561000	0.74099	CGC		0.726	TAF1C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433045.2		40.713912	-5	-5	37	37	NM_139353		15	40.816988	40.816988	19	0.441176	0	0	0	1	0	15	19	0.441176
DPYSL4	10570	broad.mit.edu	37	10	134008389	134008389	+	Silent	SNP	G	G	A	rs138714632	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr10:134008389G>A	ENST00000338492.4	+	4	518	c.354G>A	c.(352-354)gcG>gcA	p.A118A	DPYSL4_ENST00000368629.1_Silent_p.A41A|DPYSL4_ENST00000368627.1_Silent_p.A41A|DPYSL4_ENST00000493882.1_3'UTR	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	118					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		GCCTGCTGGCGGCCTACGAGC	0.662													G|||	3	0.000599042	0.0	0.0	5008	,	,		14694	0.002		0.001	False		,,,				2504	0.0					ENST00000338492.4											0			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(352-354)gcG>gcA	dihydropyrimidinase-like 4						71.0	66.0	68.0					10																	134008389		2203	4298	6501	SO:0001819	synonymous_variant	10570			axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr10:134008389G>A	AB006713	AB006713	CCDS7665.1	CCDS7665.1	10q25.2-q26	2008-05-14			2008-05-14			ENSG00000151640	ENSG00000151640	ENSG00000151640	ENSG00000151640				3016	3016	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608407	608407						8973361, 9652388	8973361, 9652388	Standard	Standard	NM_006426	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	uc009ybb.3	O14531	O14531	OTTHUMG00000019283	OTTHUMG00000019283	ENST00000338492.4:c.354G>A	10.37:g.134008389G>A			DPYSL4_ENST00000493882.1_3'UTR|DPYSL4_ENST00000368627.1_Silent_p.A41A|DPYSL4_ENST00000368629.1_Silent_p.A41A	p.A118A	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)	4	518	+		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	118		B2RMQ1|D3DRG5|O00240|Q5T0Q7	Silent	SNP	ENST00000338492.4	37	c.354G>A	CCDS7665.1																																																																																									0.662	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2		51.566805	-29	-29	72	72			17	52.064083	52.064083	27	0.386364	0	0	0	1	0	17	27	0.386364
GDAP1L1	78997	broad.mit.edu	37	20	42885898	42885898	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr20:42885898G>A	ENST00000342560.5	+	2	374	c.286G>A	c.(286-288)Gag>Aag	p.E96K	GDAP1L1_ENST00000537864.1_Intron|GDAP1L1_ENST00000372952.3_Missense_Mutation_p.E96K	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	96	GST N-terminal.							p.E96K(1)		endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CAACCTGGGCGAGGAGGTGCC	0.612																																						ENST00000342560.5											1	Substitution - Missense(1)	lung(1)	endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18						c.(286-288)Gag>Aag	ganglioside induced differentiation associated protein 1-like 1						122.0	75.0	91.0					20																	42885898		2203	4300	6503	SO:0001583	missense	78997						g.chr20:42885898G>A			CCDS13328.1, CCDS74725.1, CCDS74726.1, CCDS74727.1	CCDS13328.1, CCDS74725.1, CCDS74726.1, CCDS74727.1	20q12	2012-02-09	2012-02-09		2012-02-09	2012-02-09		ENSG00000124194	ENSG00000124194	ENSG00000124194	ENSG00000124194				4213	4213	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_024034	NM_024034		Approved		uc010zwl.3	uc010zwl.3	Q96MZ0	Q96MZ0	OTTHUMG00000032530	OTTHUMG00000032530	ENST00000342560.5:c.286G>A	20.37:g.42885898G>A	ENSP00000341782:p.Glu96Lys		GDAP1L1_ENST00000372952.3_Missense_Mutation_p.E96K|GDAP1L1_ENST00000537864.1_Intron	p.E96K	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		2	374	+		Myeloproliferative disorder(115;0.0122)	96	GST N-terminal.	B7Z621|Q5TE60|Q68CW7|Q9BQJ7|Q9BQV4|Q9BWJ4|Q9H3Y2|Q9H4G5	Missense_Mutation	SNP	ENST00000342560.5	37	c.286G>A	CCDS13328.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.8|29.8	5.032983|5.032983	0.93575|0.93575	.|.	.|.	ENSG00000124194|ENSG00000124194	ENST00000342560;ENST00000372947;ENST00000372946;ENST00000545149;ENST00000438466;ENST00000372952|ENST00000445952	T;T;T|.	0.62498|.	0.02;0.02;1.84|.	5.55|5.55	5.55|5.55	0.83447|0.83447	5.55|5.55	5.55|5.55	0.83447|0.83447	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.51534|0.51534	0.1680|0.1680	N|N	0.13098|0.13098	0.295|0.295	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.999;1.0;0.999;1.0|.	D;D;D;D|.	0.83275|.	0.993;0.941;0.913;0.996|.	T|T	0.42816|0.42816	-0.9429|-0.9429	10|5	0.59425|.	D|.	0.04|.	.|.	19.3061|19.3061	0.94163|0.94163	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	96;96;96;42|.	B7Z1I3;B7Z621;Q96MZ0;Q5JY50|.	.;.;GD1L1_HUMAN;.|.	K|Q	96;94;96;65;96;96|42	ENSP00000341782:E96K;ENSP00000392881:E96K;ENSP00000362043:E96K|.	ENSP00000341782:E96K|.	E|R	+|+	1|2	0|0	0|0	GDAP1L1|GDAP1L1	42319312|42319312	42319312|42319312	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.229000|9.229000	0.95273|0.95273	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.612	GDAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079356.1		17.643343	-12	-12	25	25	NM_024034		6	18.216696	18.216696	13	0.315789	0	0	0	1	0	6	13	0.315789
RNF113B	140432	broad.mit.edu	37	13	98829458	98829458	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr13:98829458G>A	ENST00000267291.6	-	1	61	c.33C>T	c.(31-33)gcC>gcT	p.A11A	FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376581.5_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	11							zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			CTGCTTGGTCGGCCGTCCTTC	0.652																																						ENST00000267291.6											0			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(31-33)gcC>gcT	ring finger protein 113B						44.0	40.0	41.0					13																	98829458		2203	4300	6503	SO:0001819	synonymous_variant	140432					nucleic acid binding|zinc ion binding	g.chr13:98829458G>A	AF539427	AF539427	CCDS9486.1	CCDS9486.1	13q32.2	2006-08-22	2005-03-22	2005-03-22	2006-08-22	2005-03-22	2005-03-22	ENSG00000139797	ENSG00000139797	ENSG00000139797	ENSG00000139797		"""RING-type (C3HC4) zinc fingers"""	"""RING-type (C3HC4) zinc fingers"""	17267	17267	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""zinc finger protein 183-like 1"""	ZNF183L1	"""zinc finger protein 183-like 1"""	ZNF183L1				Standard	Standard	NM_178861	NM_178861		Approved	RNF161	uc001vnk.3	uc001vnk.3	Q8IZP6	Q8IZP6	OTTHUMG00000017245	OTTHUMG00000017245	ENST00000267291.6:c.33C>T	13.37:g.98829458G>A			FARP1_ENST00000376581.5_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000319562.6_Intron	p.A11A	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.13)		1	61	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		11		Q8WWF9|Q96QY9	Silent	SNP	ENST00000267291.6	37	c.33C>T	CCDS9486.1																																																																																									0.652	RNF113B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045536.3		23.358448	-31	-31	35	35	NM_178861		9	25.403132	25.403132	27	0.250000	0	0	0	1	0	9	27	0.25
BZW2	28969	broad.mit.edu	37	7	16720938	16720938	+	Missense_Mutation	SNP	C	C	T	rs371407289		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:16720938C>T	ENST00000433922.2	+	4	426	c.248C>T	c.(247-249)aCg>aTg	p.T83M	BZW2_ENST00000258761.3_Missense_Mutation_p.T83M|BZW2_ENST00000432311.1_3'UTR|BZW2_ENST00000405202.1_Missense_Mutation_p.T7M|BZW2_ENST00000452975.2_Missense_Mutation_p.T83M	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	83					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	membrane (GO:0016020)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		CCTGGAGGAACGCGCATAGAT	0.403																																						ENST00000433922.2											0			cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15						c.(247-249)aCg>aTg	basic leucine zipper and W2 domains 2	C	MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	124.0	110.0	115.0		248,248	5.9	1.0	7		115	0,8600		0,0,4300	no	missense,missense	BZW2	NM_001159767.1,NM_014038.2	81,81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	83/420,83/420	16720938	1,13005	2203	4300	6503	SO:0001583	missense	28969			cell differentiation|nervous system development|RNA metabolic process		protein binding	g.chr7:16720938C>T	AF083246	AF083246	CCDS5362.1	CCDS5362.1	7p21.3	2008-07-18			2008-07-18			ENSG00000136261	ENSG00000136261	ENSG00000136261	ENSG00000136261				18808	18808	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										11042152	11042152	Standard	Standard	NM_001159767	NM_001159767		Approved	HSPC028, MST017, MSTP017	uc003stj.2	uc003stj.2	Q9Y6E2	Q9Y6E2	OTTHUMG00000130755	OTTHUMG00000130755	ENST00000433922.2:c.248C>T	7.37:g.16720938C>T	ENSP00000397249:p.Thr83Met		BZW2_ENST00000258761.3_Missense_Mutation_p.T83M|BZW2_ENST00000452975.2_Missense_Mutation_p.T83M|BZW2_ENST00000405202.1_Missense_Mutation_p.T7M|BZW2_ENST00000432311.1_3'UTR	p.T83M	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.199)	4	426	+	Lung NSC(10;0.0367)|all_lung(11;0.0837)		83		A4D123|Q3B779|Q96JW5|Q9H3F7	Missense_Mutation	SNP	ENST00000433922.2	37	c.248C>T	CCDS5362.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.371822	0.82573	2.27E-4	0.0	ENSG00000136261	ENST00000415365;ENST00000258761;ENST00000433922;ENST00000452975;ENST00000405202;ENST00000446596;ENST00000438834;ENST00000430000	T;T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93	5.9	5.9	0.94986	5.9	5.9	0.94986	.	0.058233	0.64402	D	0.000003	T	0.64227	0.2579	M	0.75777	2.31	0.58432	D	0.999999	D;D;D	0.89917	0.993;1.0;0.993	P;D;P	0.69307	0.568;0.963;0.568	T	0.65162	-0.6235	10	0.59425	D	0.04	-6.3474	15.7199	0.77700	0.0:0.8641:0.1359:0.0	.	83;83;83	E7ETZ4;Q96JW5;Q9Y6E2	.;.;BZW2_HUMAN	M	83;83;83;83;7;83;83;83	ENSP00000403481:T83M;ENSP00000258761:T83M;ENSP00000397249:T83M;ENSP00000411715:T83M;ENSP00000385577:T7M;ENSP00000412750:T83M;ENSP00000415924:T83M;ENSP00000416531:T83M	ENSP00000258761:T83M	T	+	2	0	0	BZW2	16687463	16687463	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.947000	0.70242	2.793000	0.96121	0.563000	0.77884	ACG		0.403	BZW2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253256.2		9.488852	-4	-4	24	24	NM_014038		4	11.162637	11.162637	16	0.200000	0	0	0	1	0	4	16	0.2
SLC34A3	142680	broad.mit.edu	37	9	140127061	140127061	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:140127061C>T	ENST00000538474.1	+	4	434	c.210C>T	c.(208-210)gcC>gcT	p.A70A	SLC34A3_ENST00000361134.2_Silent_p.A70A	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	70					cellular phosphate ion homeostasis (GO:0030643)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GCCGCGTGGCCGGCAGCGTCC	0.697																																						ENST00000538474.1											0			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(208-210)gcC>gcT	solute carrier family 34 (type II sodium/phosphate contransporter), member 3						34.0	38.0	37.0					9																	140127061		2199	4286	6485	SO:0001819	synonymous_variant	142680			cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr9:140127061C>T	AB055000	AB055000	CCDS7038.1	CCDS7038.1	9q34.3	2013-07-17	2013-07-17		2013-07-17	2013-07-17		ENSG00000198569	ENSG00000198569	ENSG00000198569	ENSG00000198569		"""Solute carriers"""	"""Solute carriers"""	20305	20305	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609826	609826	"""solute carrier family 34 (sodium phosphate), member 3"""		"""solute carrier family 34 (sodium phosphate), member 3"""			11880379, 16358215, 16358214	11880379, 16358215, 16358214	Standard	Standard	NM_080877	NM_080877		Approved	NPTIIc, FLJ38680	uc004cmf.1	uc004cmf.1	Q8N130	Q8N130	OTTHUMG00000131780	OTTHUMG00000131780	ENST00000538474.1:c.210C>T	9.37:g.140127061C>T			SLC34A3_ENST00000361134.2_Silent_p.A70A	p.A70A	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	4	434	+	all_cancers(76;0.0926)		70		A2BFA1	Silent	SNP	ENST00000538474.1	37	c.210C>T	CCDS7038.1																																																																																									0.697	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254712.1		-0.208111	-10	-10	88	88	NM_080877		6	13.2878	13.287800	69	0.080000	0	0	0	1	0	6	69	0.08
CNTNAP5	129684	broad.mit.edu	37	2	125204489	125204489	+	Missense_Mutation	SNP	C	C	T	rs375042758		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:125204489C>T	ENST00000431078.1	+	6	1257	c.893C>T	c.(892-894)aCg>aTg	p.T298M		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	298	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.T298M(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AAGGGCGAGACGGATGCCTTA	0.557																																						ENST00000431078.1											1	Substitution - Missense(1)	upper_aerodigestive_tract(1)	NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(892-894)aCg>aTg	contactin associated protein-like 5	C	MET/THR	0,4336		0,0,2168	107.0	112.0	110.0		893	4.8	0.0	2		110	1,8551		0,1,4275	no	missense	CNTNAP5	NM_130773.2	81	0,1,6443	TT,TC,CC		0.0117,0.0,0.0078	possibly-damaging	298/1307	125204489	1,12887	2168	4276	6444	SO:0001583	missense	129684			cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125204489C>T	AB077881	AB077881	CCDS46401.1	CCDS46401.1	2q14.1	2008-02-05			2008-02-05			ENSG00000155052	ENSG00000155052	ENSG00000155052	ENSG00000155052				18748	18748	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610519	610519								Standard	Standard	NM_130773	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	uc002tno.3	Q8WYK1	Q8WYK1	OTTHUMG00000153356	OTTHUMG00000153356	ENST00000431078.1:c.893C>T	2.37:g.125204489C>T	ENSP00000399013:p.Thr298Met			p.T298M	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	6	1257	+			298	Laminin G-like 1.	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.893C>T	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.791954	0.50102	0.0	1.17E-4	ENSG00000155052	ENST00000431078	T	0.78126	-1.15	5.78	4.85	0.62838	5.78	4.85	0.62838	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.424939	0.19905	N	0.103430	T	0.77772	0.4180	L	0.40543	1.245	0.20196	N	0.999928	P	0.41450	0.75	P	0.47528	0.549	T	0.72564	-0.4255	10	0.62326	D	0.03	.	16.6118	0.84885	0.0:0.8704:0.1296:0.0	.	298	Q8WYK1	CNTP5_HUMAN	M	298	ENSP00000399013:T298M	ENSP00000399013:T298M	T	+	2	0	0	CNTNAP5	124920959	124920959	0.987000	0.35691	0.028000	0.17463	0.881000	0.50899	3.600000	0.54052	2.894000	0.99253	0.655000	0.94253	ACG		0.557	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3		34.189485	1	1	50	50			12	34.952978	34.952978	23	0.342857	0	0	0	1	0	12	23	0.342857
THBS3	7059	broad.mit.edu	37	1	155167889	155167889	+	Missense_Mutation	SNP	C	C	T	rs373078740		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:155167889C>T	ENST00000368378.3	-	18	2217	c.2197G>A	c.(2197-2199)Gtc>Atc	p.V733I	RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000541576.1_Missense_Mutation_p.V130I|THBS3_ENST00000541990.1_Missense_Mutation_p.V262I|THBS3_ENST00000486260.1_5'Flank|MIR92B_ENST00000607575.1_RNA|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.V613I|RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000454348.1_RNA|RP11-263K19.4_ENST00000430312.1_RNA|RP11-263K19.4_ENST00000436772.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	733	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGATCCAGGACGACGGTCTGA	0.552																																						ENST00000368378.3											0			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						c.(2197-2199)Gtc>Atc	thrombospondin 3						134.0	111.0	118.0					1																	155167889		2203	4300	6503	SO:0001583	missense	7059			cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity	g.chr1:155167889C>T	L38969	L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			2008-02-05			ENSG00000169231	ENSG00000169231	ENSG00000169231	ENSG00000169231				11787	11787	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			188062	188062						1601886	1601886	Standard	Standard	NM_007112	NM_007112		Approved		uc001fix.3	uc001fix.3	P49746	P49746	OTTHUMG00000035710	OTTHUMG00000035710	ENST00000368378.3:c.2197G>A	1.37:g.155167889C>T	ENSP00000357362:p.Val733Ile		RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.V613I|THBS3_ENST00000541990.1_Missense_Mutation_p.V262I|THBS3_ENST00000541576.1_Missense_Mutation_p.V130I	p.V733I	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		18	2217	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		733	TSP C-terminal.	B1AVR8|B4DQ20|Q8WV34	Missense_Mutation	SNP	ENST00000368378.3	37	c.2197G>A	CCDS1099.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.576926	0.28092	.	.	ENSG00000169231	ENST00000368378;ENST00000541576;ENST00000457183;ENST00000541990	D;D;D;D	0.90955	-2.76;-2.76;-2.76;-2.76	5.08	4.15	0.48705	5.08	4.15	0.48705	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (1);	0.142736	0.46758	N	0.000269	T	0.70159	0.3192	N	0.17674	0.51	0.80722	D	1	B;B;B;B	0.09022	0.002;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.0	T	0.67309	-0.5703	10	0.30854	T	0.27	-15.494	6.9756	0.24672	0.0:0.797:0.0:0.203	.	613;733;733;733	B4DQ20;Q53FK6;Q2HIZ0;P49746	.;.;.;TSP3_HUMAN	I	733;130;613;262	ENSP00000357362:V733I;ENSP00000444792:V130I;ENSP00000392207:V613I;ENSP00000437353:V262I	ENSP00000357362:V733I	V	-	1	0	0	THBS3	153434513	153434513	0.439000	0.25610	0.806000	0.32338	0.998000	0.95712	0.916000	0.28651	1.340000	0.45581	0.563000	0.77884	GTC		0.552	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1		6.981658	-7	-7	50	50	NM_007112		4	10.190752	10.190752	23	0.148148	0	0	0	1	0	4	23	0.148148
SLC18B1	116843	broad.mit.edu	37	6	133094153	133094153	+	Missense_Mutation	SNP	G	G	A	rs573567211		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:133094153G>A	ENST00000275227.4	-	10	1160	c.1064C>T	c.(1063-1065)cCg>cTg	p.P355L	SLC18B1_ENST00000538764.1_Missense_Mutation_p.P229L	NM_052831.2	NP_439896.1	Q6NT16	S18B1_HUMAN	solute carrier family 18, subfamily B, member 1	355					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)											GAGAATTTCCGGGAAAGTTGG	0.398													G|||	1	0.000199681	0.0008	0.0	5008	,	,		13505	0.0		0.0	False		,,,				2504	0.0					ENST00000275227.4											0										c.(1063-1065)cCg>cTg	solute carrier family 18, subfamily B, member 1						69.0	70.0	69.0					6																	133094153		2203	4300	6503	SO:0001583	missense	116843			transmembrane transport	integral to membrane		g.chr6:133094153G>A	AK124442	AK124442	CCDS5163.1	CCDS5163.1	6q22.3-q23.3	2013-05-22	2012-03-09	2012-03-09	2013-05-22	2012-03-09	2012-03-09	ENSG00000146409	ENSG00000146409	ENSG00000146409	ENSG00000146409		"""Solute carriers"""	"""Solute carriers"""	21573	21573	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613361	613361	"""chromosome 6 open reading frame 192"""	C6orf192	"""chromosome 6 open reading frame 192"""	C6orf192		19697161	19697161	Standard	Standard	XM_006715328	XM_006715328		Approved	dJ55C23.6	uc003qdw.1	uc003qdw.1	Q6NT16	Q6NT16	OTTHUMG00000015595	OTTHUMG00000015595	ENST00000275227.4:c.1064C>T	6.37:g.133094153G>A	ENSP00000275227:p.Pro355Leu		SLC18B1_ENST00000538764.1_Missense_Mutation_p.P229L	p.P355L	NM_052831.2	NP_439896.1	Q6NT16	CF192_HUMAN			10	1160	-			355		A8K1K3|B3KW77|Q6ISF2	Missense_Mutation	SNP	ENST00000275227.4	37	c.1064C>T	CCDS5163.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.405589	0.83230	.	.	ENSG00000146409	ENST00000275227;ENST00000538764	T;T	0.57107	0.42;0.42	5.87	5.01	0.66863	5.87	5.01	0.66863	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.050618	0.85682	D	0.000000	T	0.60547	0.2277	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	1.0;0.979	D;P	0.69307	0.963;0.781	T	0.63056	-0.6722	10	0.37606	T	0.19	-10.8111	12.305	0.54898	0.0793:0.0:0.9207:0.0	.	229;355	B7Z1S5;Q6NT16	.;CF192_HUMAN	L	355;229	ENSP00000275227:P355L;ENSP00000444098:P229L	ENSP00000275227:P355L	P	-	2	0	0	C6orf192	133135846	133135846	1.000000	0.71417	0.910000	0.35882	0.994000	0.84299	5.535000	0.67173	1.501000	0.48654	0.585000	0.79938	CCG		0.398	SLC18B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042273.1		14.432651	17	17	53	53	NM_052831		6	17.148848	17.148848	25	0.193548	0	0	0	1	0	6	25	0.193548
SMPD3	55512	broad.mit.edu	37	16	68405352	68405352	+	Missense_Mutation	SNP	C	C	T	rs200081668		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:68405352C>T	ENST00000219334.5	-	3	1336	c.733G>A	c.(733-735)Gtg>Atg	p.V245M	SMPD3_ENST00000563226.1_Missense_Mutation_p.V245M|SMPD3_ENST00000568373.1_Missense_Mutation_p.V245M|SMPD3_ENST00000566009.1_5'Flank	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	245					cell cycle (GO:0007049)|glycosphingolipid metabolic process (GO:0006687)|hematopoietic progenitor cell differentiation (GO:0002244)|peptide hormone secretion (GO:0030072)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	Golgi cis cisterna (GO:0000137)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)	p.V245M(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	CCGATGCGCACGATGCAGGCA	0.726																																						ENST00000219334.5											1	Substitution - Missense(1)	prostate(1)	breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(733-735)Gtg>Atg	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)						17.0	19.0	18.0					16																	68405352		2193	4288	6481	SO:0001583	missense	55512			cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity	g.chr16:68405352C>T	AJ250460	AJ250460	CCDS10867.1	CCDS10867.1	16q22.1	2008-02-05			2008-02-05			ENSG00000103056	ENSG00000103056	ENSG00000103056	ENSG00000103056				14240	14240	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605777	605777						10823942	10823942	Standard	Standard	NM_018667	NM_018667		Approved	NSMASE2	uc002ewa.3	uc002ewa.3	Q9NY59	Q9NY59	OTTHUMG00000137559	OTTHUMG00000137559	ENST00000219334.5:c.733G>A	16.37:g.68405352C>T	ENSP00000219334:p.Val245Met		SMPD3_ENST00000568373.1_Missense_Mutation_p.V245M|SMPD3_ENST00000563226.1_Missense_Mutation_p.V245M	p.V245M	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	3	1336	-		Ovarian(137;0.0563)	245		B7ZL82|Q2M1S8	Missense_Mutation	SNP	ENST00000219334.5	37	c.733G>A	CCDS10867.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.663374	0.47572	.	.	ENSG00000103056	ENST00000219334	.	.	.	5.47	4.43	0.53597	5.47	4.43	0.53597	.	0.461133	0.24554	N	0.037525	T	0.25344	0.0616	N	0.19112	0.55	0.34592	D	0.715587	D;D;D	0.56035	0.974;0.974;0.974	B;B;B	0.42692	0.395;0.395;0.395	T	0.29761	-1.0001	9	0.49607	T	0.09	-19.6989	5.022	0.14365	0.0:0.7532:0.0:0.2468	.	245;245;245	B7ZL82;B7ZL84;Q9NY59	.;.;NSMA2_HUMAN	M	245	.	ENSP00000219334:V245M	V	-	1	0	0	SMPD3	66962853	66962853	0.891000	0.30450	0.975000	0.42487	0.124000	0.20399	1.529000	0.35996	2.563000	0.86464	0.561000	0.74099	GTG		0.726	SMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268895.3		40.007995	8	8	28	28	NM_018667		12	41.26358	41.263580	3	0.800000	0	0	0	1	0	12	3	0.8
DTNA	1837	broad.mit.edu	37	18	32395925	32395925	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr18:32395925C>T	ENST00000399113.3	+	6	656	c.656C>T	c.(655-657)cCg>cTg	p.P219L	DTNA_ENST00000597674.1_5'Flank|DTNA_ENST00000269192.7_5'Flank|DTNA_ENST00000595022.1_Missense_Mutation_p.P219L|DTNA_ENST00000597599.1_Missense_Mutation_p.P219L|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000399121.5_Missense_Mutation_p.P219L|DTNA_ENST00000598774.1_Missense_Mutation_p.P219L|DTNA_ENST00000598142.1_Missense_Mutation_p.P219L|DTNA_ENST00000444659.1_Missense_Mutation_p.P219L|DTNA_ENST00000556414.3_5'Flank|DTNA_ENST00000269190.7_Missense_Mutation_p.P219L|DTNA_ENST00000269191.6_Missense_Mutation_p.P219L|DTNA_ENST00000599844.1_5'Flank|DTNA_ENST00000601125.1_5'Flank|DTNA_ENST00000283365.9_Missense_Mutation_p.P219L|DTNA_ENST00000598334.1_Missense_Mutation_p.P219L|DTNA_ENST00000591182.1_5'Flank|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000554864.3_Missense_Mutation_p.P219L|DTNA_ENST00000348997.5_Missense_Mutation_p.P219L|DTNA_ENST00000315456.6_Missense_Mutation_p.P219L			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	219	Interaction with MAGEE1. {ECO:0000250}.				neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.P219Q(5)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GATCCTCCCCCGCAGTGTCTG	0.393																																						ENST00000283365.9											5	Substitution - Missense(5)	lung(5)	endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(655-657)cCg>cTg	dystrobrevin, alpha						156.0	152.0	153.0					18																	32395925		2203	4300	6503	SO:0001583	missense	1837			neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	g.chr18:32395925C>T	U84540	U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			2014-09-17			ENSG00000134769	ENSG00000134769	ENSG00000134769	ENSG00000134769				3057	3057	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	"""dystrophin-related protein 3"""	601239	601239						8081380, 15834686	8081380, 15834686	Standard	Standard	NM_001390	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	uc010dmn.1	Q9Y4J8	Q9Y4J8	OTTHUMG00000132309	OTTHUMG00000132309	ENST00000399113.3:c.656C>T	18.37:g.32395925C>T	ENSP00000382064:p.Pro219Leu		DTNA_ENST00000399121.5_Missense_Mutation_p.P219L|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000269190.7_Missense_Mutation_p.P219L|DTNA_ENST00000444659.1_Missense_Mutation_p.P219L|DTNA_ENST00000554864.3_Missense_Mutation_p.P219L|DTNA_ENST00000597599.1_Missense_Mutation_p.P219L|DTNA_ENST00000315456.6_Missense_Mutation_p.P219L|DTNA_ENST00000598334.1_Missense_Mutation_p.P219L|DTNA_ENST00000598774.1_Missense_Mutation_p.P219L|DTNA_ENST00000399113.3_Missense_Mutation_p.P219L|DTNA_ENST00000348997.5_Missense_Mutation_p.P219L|DTNA_ENST00000598142.1_Missense_Mutation_p.P219L|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000595022.1_Missense_Mutation_p.P219L|DTNA_ENST00000269191.6_Missense_Mutation_p.P219L	p.P219L	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN			8	1007	+			219	Interaction with MAGEE1 (By similarity).	A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	ENST00000399113.3	37	c.656C>T	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	C	34	5.392049	0.95988	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000315456;ENST00000556176;ENST00000399114;ENST00000269190;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113	D;D;D;D;D;D;D;D	0.91351	-2.83;-2.83;-2.83;-2.83;-2.83;-2.83;-2.83;-2.83	6.04	6.04	0.98038	6.04	6.04	0.98038	EF-hand domain, type 2 (1);	0.000000	0.85682	D	0.000000	D	0.96803	0.8956	M	0.92219	3.285	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;0.998;1.0;0.994;0.999;1.0;1.0;1.0;0.998;1.0	D	0.96821	0.9604	10	0.87932	D	0	-17.9229	20.5948	0.99439	0.0:1.0:0.0:0.0	.	219;219;219;219;219;219;230;219;219;219;219	Q9Y4J8;Q9Y4J8-3;A8K541;F5H5C1;Q9Y4J8-4;E9PEH8;Q59GK7;Q9BS59;Q9Y4J8-2;Q9Y4J8-5;Q9Y4J8-7	DTNA_HUMAN;.;.;.;.;.;.;.;.;.;.	L	219	ENSP00000283365:P219L;ENSP00000322519:P219L;ENSP00000269190:P219L;ENSP00000336682:P219L;ENSP00000382072:P219L;ENSP00000405819:P219L;ENSP00000269191:P219L;ENSP00000382064:P219L	ENSP00000269190:P219L	P	+	2	0	0	DTNA	30649923	30649923	1.000000	0.71417	0.664000	0.29753	0.943000	0.58893	7.743000	0.85020	2.873000	0.98535	0.563000	0.77884	CCG		0.393	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2		239.170479	-12	-12	196	196	NM_001390		76	240.384592	240.384592	108	0.413043	0	0	0	1	0	76	108	0.413043
C1QTNF8	390664	broad.mit.edu	37	16	1143802	1143802	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:1143802G>A	ENST00000328449.5	-	4	731	c.458C>T	c.(457-459)gCg>gTg	p.A153V		NM_207419.3	NP_997302.2	P60827	C1QT8_HUMAN	C1q and tumor necrosis factor related protein 8	153	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				lung(2)|prostate(1)|skin(1)	4		Hepatocellular(780;0.00369)				GAAGCGGCCCGCGGCCAGGTC	0.667																																						ENST00000328449.5											0			lung(2)|prostate(1)|skin(1)	4						c.(457-459)gCg>gTg	C1q and tumor necrosis factor related protein 8						33.0	38.0	36.0					16																	1143802		2195	4292	6487	SO:0001583	missense	390664				collagen		g.chr16:1143802G>A	AY358832	AY358832	CCDS32358.1	CCDS32358.1	16p13.3	2014-08-12			2014-08-12			ENSG00000184471	ENSG00000184471	ENSG00000184471	ENSG00000184471				31374	31374	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614147	614147						12975309	12975309	Standard	Standard	NM_207419	NM_207419		Approved	UNQ5829, CTRP8	uc010uuw.1	uc010uuw.1	P60827	P60827	OTTHUMG00000167756	OTTHUMG00000167756	ENST00000328449.5:c.458C>T	16.37:g.1143802G>A	ENSP00000330426:p.Ala153Val			p.A153V	NM_207419.3	NP_997302.2	P60827	C1QT8_HUMAN			4	731	-		Hepatocellular(780;0.00369)	153	C1q.	B7U178	Missense_Mutation	SNP	ENST00000328449.5	37	c.458C>T	CCDS32358.1	.	.	.	.	.	.	.	.	.	.	g	9.290	1.050284	0.19827	.	.	ENSG00000184471	ENST00000328449	T	0.75477	-0.94	3.52	0.366	0.16136	3.52	0.366	0.16136	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.874660	0.09560	N	0.785696	T	0.62708	0.2450	L	0.48642	1.525	0.09310	N	1	P	0.49185	0.92	B	0.38106	0.265	T	0.53878	-0.8376	10	0.72032	D	0.01	.	6.4102	0.21686	0.1013:0.3577:0.541:0.0	.	153	P60827	C1QT8_HUMAN	V	153	ENSP00000330426:A153V	ENSP00000330426:A153V	A	-	2	0	0	C1QTNF8	1083803	1083803	0.002000	0.14202	0.000000	0.03702	0.009000	0.06853	1.090000	0.30902	-0.067000	0.12976	-0.127000	0.14921	GCG		0.667	C1QTNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396120.1		3.739690	9	9	68	68	XM_372606		5	11.476017	11.476017	44	0.102041	0	0	0	1	0	5	44	0.102041
PIGU	128869	broad.mit.edu	37	20	33169374	33169374	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr20:33169374G>A	ENST00000374820.2	-	9	989	c.969C>T	c.(967-969)ccC>ccT	p.P323P	PIGU_ENST00000480175.1_5'UTR|PIGU_ENST00000452740.2_Silent_p.P343P			Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class U	343					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|regulation of JAK-STAT cascade (GO:0046425)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						GGTTCCACACGGGGAAGAAGG	0.532																																						ENST00000374820.2											0			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						c.(967-969)ccC>ccT	phosphatidylinositol glycan anchor biosynthesis, class U						62.0	46.0	51.0					20																	33169374		2203	4300	6503	SO:0001819	synonymous_variant	128869			attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade	GPI-anchor transamidase complex|plasma membrane		g.chr20:33169374G>A	AL118520	AL118520	CCDS13239.1	CCDS13239.1	20q11.22	2013-02-26	2006-11-07	2006-11-07	2013-02-26	2006-11-07	2006-11-07	ENSG00000101464	ENSG00000101464	ENSG00000101464	ENSG00000101464		"""Phosphatidylinositol glycan anchor biosynthesis"""	"""Phosphatidylinositol glycan anchor biosynthesis"""	15791	15791	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	"""GPI transamidase subunit"""	608528	608528	"""CDC91 (cell division cycle 91, S. cerevisiae, homolog)-like 1"", ""CDC91 cell division cycle 91-like 1 (S. cerevisiae)"""	CDC91L1	"""CDC91 (cell division cycle 91, S. cerevisiae, homolog)-like 1"", ""CDC91 cell division cycle 91-like 1 (S. cerevisiae)"""	CDC91L1		12802054, 15034568	12802054, 15034568	Standard	Standard	NM_080476	NM_080476		Approved	bA346K17.2, GAB1	uc002xas.3	uc002xas.3	Q9H490	Q9H490	OTTHUMG00000032304	OTTHUMG00000032304	ENST00000374820.2:c.969C>T	20.37:g.33169374G>A			PIGU_ENST00000480175.1_5'UTR|PIGU_ENST00000452740.2_Silent_p.P343P	p.P323P			Q9H490	PIGU_HUMAN			9	989	-			343		Q7Z489|Q8N2F2	Silent	SNP	ENST00000374820.2	37	c.969C>T																																																																																										0.532	PIGU-201	KNOWN	basic	protein_coding	protein_coding			14.169991	-6	-6	10	10	NM_080476		5	14.539005	14.539005	10	0.333333	0	0	0	1	0	5	10	0.333333
FNDC1	84624	broad.mit.edu	37	6	159646638	159646638	+	Missense_Mutation	SNP	G	G	A	rs544765580		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:159646638G>A	ENST00000297267.9	+	8	1156	c.956G>A	c.(955-957)cGt>cAt	p.R319H	FNDC1_ENST00000480856.1_3'UTR|FNDC1_ENST00000340366.6_Missense_Mutation_p.R319H	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	319	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCTAACAGGCGTGTGCTGATT	0.463																																						ENST00000297267.9											0			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(955-957)cGt>cAt	fibronectin type III domain containing 1						233.0	233.0	233.0					6																	159646638		1966	4165	6131	SO:0001583	missense	84624				extracellular region		g.chr6:159646638G>A	AB058769	AB058769	CCDS47512.1	CCDS47512.1	6q25	2013-02-11			2013-02-11			ENSG00000164694	ENSG00000164694	ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	"""Fibronectin type III domain containing"""	21184	21184	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609991	609991	"""fibronectin type III domain containing 2"""	FNDC2	"""fibronectin type III domain containing 2"""	FNDC2		11347906	11347906	Standard	Standard	NM_032532	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	uc010kjv.3	Q4ZHG4	Q4ZHG4	OTTHUMG00000015927	OTTHUMG00000015927	ENST00000297267.9:c.956G>A	6.37:g.159646638G>A	ENSP00000297267:p.Arg319His		FNDC1_ENST00000480856.1_3'UTR|FNDC1_ENST00000340366.6_Missense_Mutation_p.R319H	p.R319H	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	8	1156	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	319	Fibronectin type-III 3.	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.956G>A	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019229	0.75275	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.57107	0.42;0.42	5.84	5.84	0.93424	5.84	5.84	0.93424	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.65585	0.2705	L	0.55481	1.735	0.39551	D	0.968971	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.65207	-0.6224	10	0.59425	D	0.04	-18.2714	20.1346	0.98019	0.0:0.0:1.0:0.0	.	319;319	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	H	319	ENSP00000297267:R319H;ENSP00000342460:R319H	ENSP00000297267:R319H	R	+	2	0	0	FNDC1	159566626	159566626	1.000000	0.71417	0.382000	0.26119	0.521000	0.34408	9.347000	0.97059	2.765000	0.95021	0.655000	0.94253	CGT		0.463	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3		133.944794	-12	-12	163	163	NM_032532		45	135.591141	135.591141	75	0.375000	0	0	0	1	0	45	75	0.375
COL22A1	169044	broad.mit.edu	37	8	139767423	139767423	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr8:139767423C>T	ENST00000303045.6	-	21	2454	c.2008G>A	c.(2008-2010)Gcc>Acc	p.A670T	COL22A1_ENST00000435777.1_Missense_Mutation_p.A670T	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	670	Collagen-like 4.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGACCGGGGGCGCCTTGGTGA	0.552										HNSCC(7;0.00092)																												ENST00000303045.6											0			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(2008-2010)Gcc>Acc	collagen, type XXII, alpha 1						71.0	76.0	75.0					8																	139767423		2203	4300	6503	SO:0001583	missense	169044			cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139767423C>T	AF406780	AF406780	CCDS6376.1	CCDS6376.1	8q24.3	2013-01-16			2013-01-16			ENSG00000169436	ENSG00000169436	ENSG00000169436	ENSG00000169436		"""Collagens"""	"""Collagens"""	22989	22989	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610026	610026								Standard	Standard	NM_152888	NM_152888		Approved		uc003yvd.3	uc003yvd.3	Q8NFW1	Q8NFW1	OTTHUMG00000150035	OTTHUMG00000150035	ENST00000303045.6:c.2008G>A	8.37:g.139767423C>T	ENSP00000303153:p.Ala670Thr		COL22A1_ENST00000435777.1_Missense_Mutation_p.A670T	p.A670T	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		21	2454	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		670	Collagen-like 4.|Gly-rich.|Pro-rich.	B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.2008G>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.403248	0.42613	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.94330	-3.4;-3.4	4.98	4.98	0.66077	4.98	4.98	0.66077	.	0.990272	0.08191	N	0.983813	D	0.89001	0.6591	L	0.31845	0.965	0.09310	N	0.999995	B	0.09022	0.002	B	0.08055	0.003	T	0.74771	-0.3552	10	0.15499	T	0.54	.	11.4433	0.50109	0.0:0.1814:0.8186:0.0	.	670	Q8NFW1	COMA1_HUMAN	T	670;670;383	ENSP00000303153:A670T;ENSP00000387655:A670T	ENSP00000303153:A670T	A	-	1	0	0	COL22A1	139836605	139836605	1.000000	0.71417	0.788000	0.31933	0.084000	0.17831	1.926000	0.40084	1.350000	0.45770	-0.187000	0.12897	GCC		0.552	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2		51.265440	-6	-6	58	58	XM_291257		17	51.854818	51.854818	28	0.377778	0	0	0	1	0	17	28	0.377778
CIITA	4261	broad.mit.edu	37	16	11001145	11001145	+	Missense_Mutation	SNP	G	G	A	rs141095229		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:11001145G>A	ENST00000324288.8	+	11	1929	c.1796G>A	c.(1795-1797)cGg>cAg	p.R599Q	CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	599	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						ACGCTCCTCCGGGACCGGCCA	0.622			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																	ENST00000324288.8		Dom	yes		16	16p13	4261	"""class II, major histocompatibility complex, transactivator"""		L	0			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						c.(1795-1797)cGg>cAg	class II, major histocompatibility complex, transactivator	G	GLN/ARG	0,4390		0,0,2195	38.0	36.0	37.0		1796	-4.7	0.0	16	dbSNP_134	37	1,8599		0,1,4299	no	missense	CIITA	NM_000246.3	43	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	benign	599/1131	11001145	1,12989	2195	4300	6495	SO:0001583	missense	4261			interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:11001145G>A	U18259	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	7067	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	600005	"""MHC class II transactivator"""	MHC2TA	"""MHC class II transactivator"""	MHC2TA		8402893	8402893	Standard	Standard	NM_000246	NM_000246		Approved	C2TA, NLRA	uc002dai.4	uc002dai.4	P33076	P33076	OTTHUMG00000129753	OTTHUMG00000129753	ENST00000324288.8:c.1796G>A	16.37:g.11001145G>A	ENSP00000316328:p.Arg599Gln		CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron	p.R599Q	NM_000246.3	NP_000237	P33076	C2TA_HUMAN			11	1929	+			599	NACHT.	A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	ENST00000324288.8	37	c.1796G>A	CCDS10544.1	.	.	.	.	.	.	.	.	.	.	G	6.458	0.452639	0.12283	0.0	1.16E-4	ENSG00000179583	ENST00000324288;ENST00000388910	T	0.80909	-1.43	5.1	-4.74	0.03249	5.1	-4.74	0.03249	NACHT nucleoside triphosphatase (1);	1.375580	0.04775	N	0.428783	T	0.62183	0.2407	N	0.17278	0.47	0.09310	N	1	B;B;B;B	0.20261	0.002;0.002;0.043;0.001	B;B;B;B	0.16289	0.003;0.001;0.015;0.001	T	0.49579	-0.8925	10	0.14656	T	0.56	.	7.8264	0.29318	0.5702:0.0:0.3207:0.1091	.	599;599;551;599	A0N0N9;P33076;F2Z2G8;Q96KL4	.;C2TA_HUMAN;.;.	Q	599;551	ENSP00000316328:R599Q	ENSP00000316328:R599Q	R	+	2	0	0	CIITA	10908646	10908646	0.000000	0.05858	0.000000	0.03702	0.210000	0.24377	-0.048000	0.11944	-1.468000	0.01892	-0.768000	0.03414	CGG		0.622	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2		18.344654	-2	-2	32	32	NM_000246		6	18.787138	18.787138	12	0.333333	0	0	0	1	0	6	12	0.333333
COL4A1	1282	broad.mit.edu	37	13	110804776	110804776	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr13:110804776C>T	ENST00000375820.4	-	51	4954	c.4833G>A	c.(4831-4833)gcG>gcA	p.A1611A		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1611	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CGATGAATGGCGCACTTCTAA	0.587																																						ENST00000375820.4											0			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(4831-4833)gcG>gcA	collagen, type IV, alpha 1						70.0	59.0	63.0					13																	110804776		2203	4300	6503	SO:0001819	synonymous_variant	1282			angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110804776C>T	J04217	J04217	CCDS9511.1	CCDS9511.1	13q34	2013-09-05			2013-09-05			ENSG00000187498	ENSG00000187498	ENSG00000187498	ENSG00000187498		"""Collagens"""	"""Collagens"""	2202	2202	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			120130	120130						3691802	3691802	Standard	Standard	NM_001845	NM_001845		Approved		uc001vqw.4	uc001vqw.4	P02462	P02462	OTTHUMG00000017342	OTTHUMG00000017342	ENST00000375820.4:c.4833G>A	13.37:g.110804776C>T				p.A1611A	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		51	4954	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	1611	Collagen IV NC1.	A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Silent	SNP	ENST00000375820.4	37	c.4833G>A	CCDS9511.1																																																																																									0.587	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3		78.941574	-2	-2	111	111			26	79.292882	79.292882	36	0.419355	0	0	0	1	0	26	36	0.419355
NWD1	284434	broad.mit.edu	37	19	16860798	16860798	+	Missense_Mutation	SNP	C	C	T	rs373258516		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:16860798C>T	ENST00000552788.1	+	4	1345	c.1345C>T	c.(1345-1347)Cgg>Tgg	p.R449W	NWD1_ENST00000524140.2_Missense_Mutation_p.R449W|NWD1_ENST00000339803.6_Missense_Mutation_p.R314W|NWD1_ENST00000379808.3_Missense_Mutation_p.R449W|NWD1_ENST00000549814.1_Missense_Mutation_p.R449W|NWD1_ENST00000523826.1_Missense_Mutation_p.R243W			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	449	NACHT.						ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCGCCATGCTCGGAGGGTTCC	0.597																																						ENST00000524140.2											0			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1345-1347)Cgg>Tgg	NACHT and WD repeat domain containing 1	C	TRP/ARG	0,4406		0,0,2203	75.0	73.0	73.0		1345	-1.0	0.0	19		73	1,8599	1.2+/-3.3	0,1,4299	no	missense	NWD1	NM_001007525.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	449/1433	16860798	1,13005	2203	4300	6503	SO:0001583	missense	284434					ATP binding	g.chr19:16860798C>T	BX648940	BX648940	CCDS32945.1, CCDS32945.2	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09			2013-01-09				ENSG00000188039		ENSG00000188039		"""WD repeat domain containing"""	"""WD repeat domain containing"""	27619	27619	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001007525	NM_001007525		Approved		uc002neu.4	uc002neu.4	Q149M9	Q149M9			ENST00000552788.1:c.1345C>T	19.37:g.16860798C>T	ENSP00000447224:p.Arg449Trp		NWD1_ENST00000552788.1_Missense_Mutation_p.R449W|NWD1_ENST00000339803.6_Missense_Mutation_p.R314W|NWD1_ENST00000379808.3_Missense_Mutation_p.R449W|NWD1_ENST00000549814.1_Missense_Mutation_p.R449W|NWD1_ENST00000523826.1_Missense_Mutation_p.R243W	p.R449W	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			6	1763	+			449	NACHT.	C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.1345C>T		.	.	.	.	.	.	.	.	.	.	c	11.50	1.655792	0.29425	0.0	1.16E-4	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32;-1.32	4.48	-1.01	0.10169	4.48	-1.01	0.10169	.	0.851889	0.10202	N	0.703233	D	0.85957	0.5818	M	0.78049	2.395	0.09310	N	1	D;D;D	0.71674	0.998;0.997;0.998	P;P;P	0.57846	0.761;0.736;0.828	T	0.77419	-0.2595	10	0.39692	T	0.17	-7.41	12.7226	0.57149	0.5394:0.4606:0.0:0.0	.	449;449;314	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	W	314;449;449;449;243;449;314	ENSP00000428579:R449W;ENSP00000447548:R449W;ENSP00000369136:R449W;ENSP00000428955:R243W;ENSP00000447224:R449W;ENSP00000340159:R314W	ENSP00000340159:R314W	R	+	1	2	2	NWD1	16721798	16721798	0.084000	0.21492	0.000000	0.03702	0.005000	0.04900	1.890000	0.39728	0.067000	0.16545	-0.183000	0.12914	CGG		0.597	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1		-9.059299	-17	-17	111	111	NM_001007525		4	7.840602	7.840602	75	0.050633	0	0	0	1	0	4	75	0.050633
FMO3	2328	broad.mit.edu	37	1	171086253	171086253	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:171086253G>A	ENST00000367755.4	+	9	1381	c.1270G>A	c.(1270-1272)Gag>Aag	p.E424K	FMO3_ENST00000542847.1_Missense_Mutation_p.E404K|FMO3_ENST00000392085.2_Missense_Mutation_p.E424K|FMO3_ENST00000538429.1_Missense_Mutation_p.E361K	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	424					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	TGGCAAAAGCGAGACCATACA	0.438																																						ENST00000367755.4											0			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31						c.(1270-1272)Gag>Aag	flavin containing monooxygenase 3						96.0	95.0	95.0					1																	171086253		2203	4300	6503	SO:0001583	missense	2328			xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	g.chr1:171086253G>A	BC032016	BC032016	CCDS1292.1	CCDS1292.1	1q24.3	2013-10-01			2013-10-01			ENSG00000007933	ENSG00000007933	ENSG00000007933	ENSG00000007933	2.6.1.16			3771	3771	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			136132	136132						8486388, 9417913	8486388, 9417913	Standard	Standard	NM_001002294	NM_001002294		Approved		uc001ghh.3	uc001ghh.3	P31513	P31513	OTTHUMG00000035505	OTTHUMG00000035505	ENST00000367755.4:c.1270G>A	1.37:g.171086253G>A	ENSP00000356729:p.Glu424Lys		FMO3_ENST00000392085.2_Missense_Mutation_p.E424K|FMO3_ENST00000538429.1_Missense_Mutation_p.E361K|FMO3_ENST00000542847.1_Missense_Mutation_p.E404K	p.E424K	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN			9	1381	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		424		B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	ENST00000367755.4	37	c.1270G>A	CCDS1292.1	.	.	.	.	.	.	.	.	.	.	G	8.806	0.934057	0.18206	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	5.34	-1.76	0.08006	5.34	-1.76	0.08006	.	0.656233	0.16519	N	0.210874	T	0.09512	0.0234	N	0.16833	0.445	0.09310	N	1	B;B;B	0.32071	0.355;0.013;0.0	B;B;B	0.23852	0.049;0.004;0.003	T	0.17776	-1.0358	10	0.38643	T	0.18	-0.1812	6.9481	0.24530	0.4067:0.3774:0.2159:0.0	.	361;404;424	F5H261;F5GZZ8;P31513	.;.;FMO3_HUMAN	K	424;424;404;361	ENSP00000356729:E424K;ENSP00000375935:E424K;ENSP00000444073:E404K;ENSP00000439500:E361K	ENSP00000356729:E424K	E	+	1	0	0	FMO3	169352877	169352877	0.000000	0.05858	0.001000	0.08648	0.059000	0.15707	-1.213000	0.02991	-0.028000	0.13850	0.655000	0.94253	GAG		0.438	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1		78.834050	-23	-23	51	51	NM_006894		23	79.314294	79.314294	14	0.621622	0	0	0	1	0	23	14	0.621622
ZC3H13	23091	broad.mit.edu	37	13	46616352	46616352	+	Missense_Mutation	SNP	C	C	T	rs199682940		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr13:46616352C>T	ENST00000242848.4	-	4	634	c.286G>A	c.(286-288)Gtg>Atg	p.V96M	ZC3H13_ENST00000282007.3_Missense_Mutation_p.V96M			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	96							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TCAGTGTCCACGTCTTGGCGC	0.413																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4											0			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(286-288)Gtg>Atg	zinc finger CCCH-type containing 13						211.0	193.0	199.0					13																	46616352		2203	4300	6503	SO:0001583	missense	23091					nucleic acid binding|zinc ion binding	g.chr13:46616352C>T	AB020660	AB020660	CCDS9400.1	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	"""Zinc fingers, CCCH-type domain containing"""	20368	20368	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""KIAA0853"""	KIAA0853	"""KIAA0853"""	KIAA0853		10048485	10048485	Standard	Standard	XM_005266301	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	uc001vas.1	Q5T200	Q5T200	OTTHUMG00000016863	OTTHUMG00000016863	ENST00000242848.4:c.286G>A	13.37:g.46616352C>T	ENSP00000242848:p.Val96Met		ZC3H13_ENST00000282007.3_Missense_Mutation_p.V96M	p.V96M			Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	4	634	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	96		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37	c.286G>A		.	.	.	.	.	.	.	.	.	.	C	11.66	1.705657	0.30232	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000428921	T;T	0.38077	2.11;1.16	5.43	4.59	0.56863	5.43	4.59	0.56863	.	0.000000	0.51477	D	0.000087	T	0.23806	0.0576	L	0.27053	0.805	0.80722	D	1	P;P	0.50369	0.892;0.934	B;B	0.37650	0.13;0.255	T	0.03651	-1.1016	10	0.54805	T	0.06	.	11.295	0.49274	0.0:0.8533:0.0:0.1467	.	96;96	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	M	96	ENSP00000242848:V96M;ENSP00000282007:V96M	ENSP00000242848:V96M	V	-	1	0	0	ZC3H13	45514353	45514353	1.000000	0.71417	1.000000	0.80357	0.540000	0.34992	3.503000	0.53340	1.300000	0.44818	0.467000	0.42956	GTG		0.413	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1		7.741504	3	3	87	87	NM_015070		8	19.765855	19.765855	69	0.103896	0	0	0	1	0	8	69	0.103896
F7	2155	broad.mit.edu	37	13	113772927	113772927	+	Missense_Mutation	SNP	G	G	A	rs374305125		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr13:113772927G>A	ENST00000375581.3	+	9	1041	c.1006G>A	c.(1006-1008)Gtg>Atg	p.V336M	F7_ENST00000541084.1_Missense_Mutation_p.V267M|F7_ENST00000346342.3_Missense_Mutation_p.V314M	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	336	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|cellular protein metabolic process (GO:0044267)|circadian rhythm (GO:0007623)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell migration (GO:0030335)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to growth hormone (GO:0060416)|response to vitamin K (GO:0032571)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	GCTGGCCTTCGTGCGCTTCTC	0.677																																						ENST00000375581.3											0			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	GRCh37	CD010610	F7	D		c.(1006-1008)Gtg>Atg	coagulation factor VII (serum prothrombin conversion accelerator)	G	MET/VAL,MET/VAL	1,4403	2.1+/-5.4	0,1,2201	50.0	44.0	46.0		1006,940	-2.4	0.0	13		46	0,8596		0,0,4298	no	missense,missense	F7	NM_000131.3,NM_019616.2	21,21	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	336/467,314/445	113772927	1,12999	2202	4298	6500	SO:0001583	missense	2155			anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity	g.chr13:113772927G>A			CCDS9528.1, CCDS9529.1, CCDS73602.1	CCDS9528.1, CCDS9529.1, CCDS73602.1	13q34	2014-02-03			2014-02-03			ENSG00000057593	ENSG00000057593	ENSG00000057593	ENSG00000057593	3.4.21.21			3544	3544	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""eptacog alfa"", ""FVII coagulation protein"", ""factor VII"""	"""eptacog alfa"", ""FVII coagulation protein"", ""factor VII"""	613878	613878						3264725, 2511201	3264725, 2511201	Standard	Standard	NM_000131	NM_000131		Approved		uc001vsv.4	uc001vsv.4	P08709	P08709	OTTHUMG00000017373	OTTHUMG00000017373	ENST00000375581.3:c.1006G>A	13.37:g.113772927G>A	ENSP00000364731:p.Val336Met		F7_ENST00000541084.1_Missense_Mutation_p.V267M|F7_ENST00000346342.3_Missense_Mutation_p.V314M	p.V336M	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		9	1041	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	336	Peptidase S1.	B0YJC8|Q14339|Q5JVF1|Q5JVF2|Q9UD52|Q9UD53|Q9UD54	Missense_Mutation	SNP	ENST00000375581.3	37	c.1006G>A	CCDS9528.1	.	.	.	.	.	.	.	.	.	.	G	9.376	1.071860	0.20147	2.27E-4	0.0	ENSG00000057593	ENST00000346342;ENST00000541084;ENST00000375581	D;D;D	0.88509	-2.39;-2.39;-2.39	4.41	-2.42	0.06542	4.41	-2.42	0.06542	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.386281	0.26616	N	0.023387	D	0.89037	0.6601	L	0.46157	1.445	0.20563	N	0.99989	D;D;D	0.76494	0.998;0.998;0.999	D;P;P	0.64776	0.929;0.866;0.889	T	0.82502	-0.0425	10	0.45353	T	0.12	.	9.9882	0.41854	0.5973:0.0:0.4027:0.0	.	267;314;336	F5H8B0;P08709-2;P08709	.;.;FA7_HUMAN	M	314;267;336	ENSP00000329546:V314M;ENSP00000442051:V267M;ENSP00000364731:V336M	ENSP00000329546:V314M	V	+	1	0	0	F7	112820928	112820928	0.180000	0.23148	0.045000	0.18777	0.011000	0.07611	0.625000	0.24477	-0.303000	0.08856	-0.373000	0.07131	GTG		0.677	F7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045838.4		18.715348	-9	-9	29	29	NM_000131		7	19.648349	19.648349	17	0.291667	0	0	0	1	0	7	17	0.291667
NOTCH2	4853	broad.mit.edu	37	1	120506201	120506201	+	Silent	SNP	C	C	T	rs369028361		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:120506201C>T	ENST00000256646.2	-	11	2130	c.1911G>A	c.(1909-1911)acG>acA	p.T637T		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	637	EGF-like 16; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.T637T(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCTTACCTGACGTGCCTGGCT	0.483			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2		Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	1	Substitution - coding silent(1)	large_intestine(1)	breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(1909-1911)acG>acA	notch 2	C	,	0,4406		0,0,2203	204.0	177.0	186.0		1911,1911	-11.1	0.0	1		186	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	NOTCH2	NM_001200001.1,NM_024408.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	637/1236,637/2472	120506201	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4853	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120506201C>T	AF315356	AF315356	CCDS908.1	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250	ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	"""Ankyrin repeat domain containing"""	7882	7882	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600275	600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""		"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	7698746	Standard	Standard	NM_001200001	NM_001200001		Approved		uc001eik.3	uc001eik.3	Q04721	Q04721	OTTHUMG00000012177	OTTHUMG00000012177	ENST00000256646.2:c.1911G>A	1.37:g.120506201C>T				p.T637T	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	11	2130	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	637	EGF-like 16; calcium-binding (Potential).	Q5T3X7|Q99734|Q9H240	Silent	SNP	ENST00000256646.2	37	c.1911G>A	CCDS908.1																																																																																									0.483	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1		-9.011320	-34	-34	192	192	NM_024408		9	19.955321	19.955321	136	0.062069	0	0	0	1	0	9	136	0.062069
DNAH2	146754	broad.mit.edu	37	17	7696114	7696114	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:7696114G>A	ENST00000572933.1	+	47	8745	c.7285G>A	c.(7285-7287)Gtt>Att	p.V2429I	DNAH2_ENST00000389173.2_Missense_Mutation_p.V2429I			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2429	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.V2429L(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CGCCCAGAGCGTTCTGCAGTC	0.632																																						ENST00000572933.1											1	Substitution - Missense(1)	lung(1)	NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(7285-7287)Gtt>Att	dynein, axonemal, heavy chain 2						74.0	67.0	69.0					17																	7696114		2203	4300	6503	SO:0001583	missense	146754			ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7696114G>A	U83570, AK128517	U83570, AK128517	CCDS32551.1	CCDS32551.1	17p13.1	2007-10-05	2006-09-04		2007-10-05	2006-09-04			ENSG00000183914		ENSG00000183914		"""Axonemal dyneins"""	"""Axonemal dyneins"""	2948	2948	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603333	603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	9256245	Standard	Standard	XM_005256470	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	uc002giu.1	Q9P225	Q9P225			ENST00000572933.1:c.7285G>A	17.37:g.7696114G>A	ENSP00000458355:p.Val2429Ile		DNAH2_ENST00000389173.2_Missense_Mutation_p.V2429I	p.V2429I			Q9P225	DYH2_HUMAN			47	8745	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2429	AAA 3 (By similarity).	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.7285G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.726781	0.69074	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.17054	2.3	5.47	5.47	0.80525	5.47	5.47	0.80525	ATPase, AAA+ type, core (1);	0.000000	0.64402	D	0.000001	T	0.21227	0.0511	L	0.61218	1.895	0.80722	D	1	P	0.46142	0.873	B	0.39590	0.304	T	0.02691	-1.1123	10	0.27785	T	0.31	.	18.1078	0.89526	0.0:0.0:1.0:0.0	.	2429	Q9P225	DYH2_HUMAN	I	2429	ENSP00000373825:V2429I	ENSP00000353818:V2429I	V	+	1	0	0	DNAH2	7636839	7636839	1.000000	0.71417	0.946000	0.38457	0.785000	0.44390	5.842000	0.69417	2.573000	0.86826	0.643000	0.83706	GTT		0.632	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1		26.536550	2	2	64	64	NM_020877		10	28.134896	28.134896	26	0.277778	0	0	0	1	0	10	26	0.277778
KCNMA1	3778	broad.mit.edu	37	10	78651328	78651328	+	Silent	SNP	G	G	A	rs372103668		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr10:78651328G>A	ENST00000286628.8	-	26	3296	c.3297C>T	c.(3295-3297)cgC>cgT	p.R1099R	KCNMA1_ENST00000406533.3_Silent_p.R1103R|RP11-443A13.5_ENST00000609102.1_RNA|KCNMA1_ENST00000372440.1_Silent_p.R1041R|KCNMA1_ENST00000372443.1_Silent_p.R1068R|RP11-443A13.5_ENST00000595702.1_RNA|KCNMA1_ENST00000286627.5_Silent_p.R1041R|KCNMA1_ENST00000354353.5_Silent_p.R1102R|RP11-443A13.5_ENST00000458661.2_RNA|RP11-443A13.5_ENST00000429850.2_RNA|KCNMA1_ENST00000404857.1_Silent_p.R1082R|KCNMA1_ENST00000404771.3_Silent_p.R1099R	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1099					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	ACTGGGCCACGCGGCAGCGGT	0.607																																						ENST00000286627.5											0			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68						c.(3121-3123)cgC>cgT	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	G	,,,	0,4406		0,0,2203	42.0	40.0	41.0		3135,3297,3246,3123	-11.2	0.0	10		41	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	KCNMA1	NM_001014797.2,NM_001161352.1,NM_001161353.1,NM_002247.3	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	1045/1183,1099/1237,1082/1220,1041/1179	78651328	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3778			cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78651328G>A	U11717	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			2012-07-05			ENSG00000156113	ENSG00000156113	ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	6284	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	"""BK channel alpha subunit"""	600150	600150		SLO		SLO		7987297, 16382103	7987297, 16382103	Standard	Standard	NM_002247	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	uc001jxn.3	Q12791	Q12791	OTTHUMG00000018543	OTTHUMG00000018543	ENST00000286628.8:c.3297C>T	10.37:g.78651328G>A			KCNMA1_ENST00000354353.5_Silent_p.R1102R|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000372443.1_Silent_p.R1068R|KCNMA1_ENST00000406533.3_Silent_p.R1103R|KCNMA1_ENST00000372440.1_Silent_p.R1041R|RP11-443A13.5_ENST00000609102.1_RNA|KCNMA1_ENST00000286628.8_Silent_p.R1099R|RP11-443A13.5_ENST00000429850.2_RNA|KCNMA1_ENST00000404771.3_Silent_p.R1099R|KCNMA1_ENST00000404857.1_Silent_p.R1082R|RP11-443A13.5_ENST00000595702.1_RNA	p.R1041R	NM_001271519.1|NM_002247.3	NP_001258448.1|NP_002238.2	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		25	4075	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		1099	Segment S10.	F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Silent	SNP	ENST00000286628.8	37	c.3123C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.688|2.688	-0.273736|-0.273736	0.05679|0.05679	0.0|0.0	1.16E-4|1.16E-4	ENSG00000156113|ENSG00000156113	ENST00000372403|ENST00000372421;ENST00000434208	.|T	.|0.21932	.|1.98	5.61|5.61	-11.2|-11.2	0.00127|0.00127	5.61|5.61	-11.2|-11.2	0.00127|0.00127	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.17577|0.17577	0.0422|0.0422	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.61232|0.61232	-0.7104|-0.7104	4|7	.|0.87932	.|D	.|0	-9.6252|-9.6252	2.4339|2.4339	0.04478|0.04478	0.413:0.2406:0.0732:0.2732|0.413:0.2406:0.0732:0.2732	.|.	.|.	.|.	.|.	V|C	992|1030;749	.|ENSP00000402150:R749C	.|ENSP00000361498:R1030C	A|R	-|-	2|1	0|0	0|0	KCNMA1|KCNMA1	78321334|78321334	78321334|78321334	0.001000|0.001000	0.12720|0.12720	0.044000|0.044000	0.18714|0.18714	0.451000|0.451000	0.32288|0.32288	-1.897000|-1.897000	0.01603|0.01603	-3.516000|-3.516000	0.00148|0.00148	-0.143000|-0.143000	0.13931|0.13931	GCG|CGT		0.607	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3		31.319184	-11	-11	25	25	NM_002247		11	31.521555	31.521555	16	0.407407	0	0	0	1	0	11	16	0.407407
CTTNBP2	83992	broad.mit.edu	37	7	117375046	117375046	+	Missense_Mutation	SNP	C	C	T	rs35288952|rs200782612		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:117375046C>T	ENST00000160373.3	-	16	3888	c.3797G>A	c.(3796-3798)cGc>cAc	p.R1266H		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1266					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CTGCACCCAGCGGAAATGCTG	0.532																																						ENST00000160373.3											0			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(3796-3798)cGc>cAc	cortactin binding protein 2						69.0	72.0	71.0					7																	117375046		2203	4300	6503	SO:0001583	missense	83992						g.chr7:117375046C>T			CCDS5774.1	CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	"""Ankyrin repeat domain containing"""	15679	15679	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609772	609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	11707066	Standard	Standard	XM_005250635	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	uc003vjf.3	Q8WZ74	Q8WZ74	OTTHUMG00000022880	OTTHUMG00000022880	ENST00000160373.3:c.3797G>A	7.37:g.117375046C>T	ENSP00000160373:p.Arg1266His			p.R1266H	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	16	3888	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		1266		O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.3797G>A	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.608420	0.87258	.	.	ENSG00000077063	ENST00000160373	T	0.77358	-1.09	5.38	4.5	0.54988	5.38	4.5	0.54988	.	0.000000	0.85682	D	0.000000	D	0.87629	0.6225	M	0.87547	2.89	0.58432	D	0.999998	D	0.89917	1.0	D	0.69479	0.964	D	0.88751	0.3250	10	0.87932	D	0	-4.1387	10.1297	0.42672	0.1363:0.7925:0.0:0.0712	.	1266	Q8WZ74	CTTB2_HUMAN	H	1266	ENSP00000160373:R1266H	ENSP00000160373:R1266H	R	-	2	0	0	CTTNBP2	117162282	117162282	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.438000	0.66550	1.390000	0.46547	0.655000	0.94253	CGC		0.532	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4		19.791701	-2	-2	37	37	NM_033427		8	22.149898	22.149898	27	0.228571	0	0	0	1	0	8	27	0.228571
WDR16	146845	broad.mit.edu	37	17	9532119	9532119	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:9532119G>A	ENST00000352665.5	+	9	1225	c.1156G>A	c.(1156-1158)Ggc>Agc	p.G386S	WDR16_ENST00000299764.5_Missense_Mutation_p.G396S|WDR16_ENST00000396219.3_Missense_Mutation_p.G318S	NM_145054.4	NP_659491.4			WD repeat domain 16											NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						CATGAGGGACGGCAAAAGCAT	0.522																																						ENST00000352665.5											0			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1156-1158)Ggc>Agc	WD repeat domain 16						137.0	103.0	115.0					17																	9532119		2203	4300	6503	SO:0001583	missense	146845				cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr17:9532119G>A	AB065281	AB065281	CCDS11149.2, CCDS42262.1	CCDS11149.2, CCDS42262.1	17p13.1	2014-08-01			2014-08-01			ENSG00000166596	ENSG00000166596	ENSG00000166596	ENSG00000166596		"""WD repeat domain containing"""	"""WD repeat domain containing"""	16053	16053	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""WD40-repeat protein upregulated in HCC"""	"""WD40-repeat protein upregulated in HCC"""	609804	609804						15967112	15967112	Standard	Standard	NM_001080556	NM_001080556		Approved	WDRPUH, FLJ37528	uc002gly.3	uc002gly.3	Q8N1V2	Q8N1V2	OTTHUMG00000150149	OTTHUMG00000150149	ENST00000352665.5:c.1156G>A	17.37:g.9532119G>A	ENSP00000339449:p.Gly386Ser		WDR16_ENST00000299764.5_Missense_Mutation_p.G396S|WDR16_ENST00000396219.3_Missense_Mutation_p.G318S	p.G386S	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN			9	1225	+			386			Missense_Mutation	SNP	ENST00000352665.5	37	c.1156G>A	CCDS11149.2	.	.	.	.	.	.	.	.	.	.	G	32	5.156536	0.94686	.	.	ENSG00000166596	ENST00000352665;ENST00000396219;ENST00000299764	T;T;T	0.56611	0.45;2.35;1.91	5.64	5.64	0.86602	5.64	5.64	0.86602	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.76716	0.4026	M	0.84773	2.715	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.79235	-0.1887	10	0.59425	D	0.04	-24.8957	18.4726	0.90779	0.0:0.0:1.0:0.0	.	396;318;386	Q8N1V2-2;Q8N1V2-3;Q8N1V2	.;.;WDR16_HUMAN	S	386;318;396	ENSP00000339449:G386S;ENSP00000379521:G318S;ENSP00000299764:G396S	ENSP00000299764:G396S	G	+	1	0	0	WDR16	9472844	9472844	1.000000	0.71417	0.966000	0.40874	0.829000	0.46940	9.250000	0.95477	2.637000	0.89404	0.563000	0.77884	GGC		0.522	WDR16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316569.2		29.972805	0	0	81	81	NM_145054		12	33.614731	33.614731	41	0.226415	0	0	0	1	0	12	41	0.226415
CASKIN1	57524	broad.mit.edu	37	16	2231447	2231447	+	Missense_Mutation	SNP	G	G	A	rs201669676	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:2231447G>A	ENST00000343516.6	-	18	2014	c.1922C>T	c.(1921-1923)cCg>cTg	p.P641L	CASKIN1_ENST00000564289.1_5'Flank	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	641					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GCAGTCGGCCGGTGTGGGCTC	0.672													G|||	4	0.000798722	0.0	0.0	5008	,	,		9527	0.001		0.0	False		,,,				2504	0.0031					ENST00000343516.6											0			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						c.(1921-1923)cCg>cTg	CASK interacting protein 1	G	LEU/PRO	1,3949		0,1,1974	16.0	24.0	22.0		1922	4.4	0.3	16		22	1,8275		0,1,4137	yes	missense	CASKIN1	NM_020764.3	98	0,2,6111	AA,AG,GG		0.0121,0.0253,0.0164	benign	641/1432	2231447	2,12224	1975	4138	6113	SO:0001583	missense	57524			signal transduction	cytoplasm		g.chr16:2231447G>A	AF451977	AF451977	CCDS42103.1	CCDS42103.1	16p13.3	2013-01-10			2013-01-10				ENSG00000167971		ENSG00000167971		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20879	20879	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612184	612184						12040031	12040031	Standard	Standard	NM_020764	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	uc010bsg.1	Q8WXD9	Q8WXD9			ENST00000343516.6:c.1922C>T	16.37:g.2231447G>A	ENSP00000345436:p.Pro641Leu			p.P641L	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN			18	2014	-			641		Q9P2P0	Missense_Mutation	SNP	ENST00000343516.6	37	c.1922C>T	CCDS42103.1	.	.	.	.	.	.	.	.	.	.	G	9.554	1.116819	0.20795	2.53E-4	1.21E-4	ENSG00000167971	ENST00000343516;ENST00000382453	T	0.68903	-0.36	4.41	4.41	0.53225	4.41	4.41	0.53225	.	.	.	.	.	T	0.50069	0.1594	L	0.36672	1.1	0.48288	D	0.999623	P	0.42556	0.783	B	0.27887	0.084	T	0.60136	-0.7322	9	0.66056	D	0.02	-13.9855	12.367	0.55234	0.0:0.0:1.0:0.0	.	641	Q8WXD9	CSKI1_HUMAN	L	641;470	ENSP00000345436:P641L	ENSP00000345436:P641L	P	-	2	0	0	CASKIN1	2171448	2171448	0.998000	0.40836	0.308000	0.25141	0.173000	0.22820	4.591000	0.61019	2.286000	0.76751	0.555000	0.69702	CCG		0.672	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1		46.757618	7	7	30	30	NM_020764		14	47.4727	47.472700	6	0.700000	0	0	0	1	0	14	6	0.7
TBC1D15	64786	broad.mit.edu	37	12	72288569	72288569	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:72288569G>A	ENST00000550746.1	+	8	876	c.812G>A	c.(811-813)cGa>cAa	p.R271Q	TBC1D15_ENST00000319106.8_Missense_Mutation_p.R262Q|TBC1D15_ENST00000485960.2_Missense_Mutation_p.R254Q|TBC1D15_ENST00000393309.3_Missense_Mutation_p.R25Q	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	271					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACACATCAACGACCACCTTCA	0.388																																						ENST00000550746.1											0			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(811-813)cGa>cAa	TBC1 domain family, member 15						97.0	96.0	96.0					12																	72288569		2203	4299	6502	SO:0001583	missense	64786					protein binding|Rab GTPase activator activity	g.chr12:72288569G>A	AL157464	AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			2013-07-09			ENSG00000121749	ENSG00000121749	ENSG00000121749	ENSG00000121749				25694	25694	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612662	612662						16055087	16055087	Standard	Standard	NM_022771	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	uc001swu.3	Q8TC07	Q8TC07	OTTHUMG00000158553	OTTHUMG00000158553	ENST00000550746.1:c.812G>A	12.37:g.72288569G>A	ENSP00000448182:p.Arg271Gln		TBC1D15_ENST00000319106.8_Missense_Mutation_p.R262Q|TBC1D15_ENST00000393309.3_Missense_Mutation_p.R25Q|TBC1D15_ENST00000485960.2_Missense_Mutation_p.R254Q	p.R271Q	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN			8	876	+			271		B4DMT9|B9A6L6|J3KNI9|Q9HA83	Missense_Mutation	SNP	ENST00000550746.1	37	c.812G>A	CCDS31858.1	.	.	.	.	.	.	.	.	.	.	G	31	5.103992	0.94245	.	.	ENSG00000121749	ENST00000550746;ENST00000491063;ENST00000319106;ENST00000485960;ENST00000393309	T;T;T;T	0.08984	3.2;3.23;3.24;3.03	5.35	5.35	0.76521	5.35	5.35	0.76521	.	0.066930	0.64402	D	0.000008	T	0.15522	0.0374	N	0.25485	0.75	0.58432	D	0.99999	D;D;D	0.76494	0.999;0.999;0.999	P;D;P	0.63793	0.83;0.918;0.652	T	0.17410	-1.0370	10	0.10636	T	0.68	-10.7911	19.1192	0.93355	0.0:0.0:1.0:0.0	.	262;254;271	E9PH93;Q8TC07-2;Q8TC07	.;.;TBC15_HUMAN	Q	271;155;262;254;25	ENSP00000448182:R271Q;ENSP00000318262:R262Q;ENSP00000420678:R254Q;ENSP00000376986:R25Q	ENSP00000318262:R262Q	R	+	2	0	0	TBC1D15	70574836	70574836	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.962000	0.87912	2.519000	0.84933	0.644000	0.83932	CGA		0.388	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351266.2		85.481592	3	3	91	91	NM_022771		28	85.515395	85.515395	31	0.474576	0	0	0	1	0	28	31	0.474576
IL17RD	54756	broad.mit.edu	37	3	57131830	57131830	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr3:57131830C>T	ENST00000296318.7	-	12	1989	c.1901G>A	c.(1900-1902)cGg>cAg	p.R634Q	IL17RD_ENST00000427856.2_Missense_Mutation_p.R610Q|IL17RD_ENST00000320057.5_Missense_Mutation_p.R490Q|IL17RD_ENST00000463523.1_Missense_Mutation_p.R490Q	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	634					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		AAGGGCAGGCCGGGCCTCCCC	0.667																																						ENST00000296318.7											0			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16						c.(1900-1902)cGg>cAg	interleukin 17 receptor D						19.0	22.0	21.0					3																	57131830		2203	4297	6500	SO:0001583	missense	54756				Golgi membrane|integral to membrane|plasma membrane	receptor activity	g.chr3:57131830C>T	AF494208	AF494208	CCDS2880.2	CCDS2880.2	3p21.1	2008-02-05			2008-02-05			ENSG00000144730	ENSG00000144730	ENSG00000144730	ENSG00000144730		"""Interleukins and interleukin receptors"""	"""Interleukins and interleukin receptors"""	17616	17616	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606807	606807						11802164, 12604616	11802164, 12604616	Standard	Standard	NM_017563	NM_017563		Approved	SEF, IL17RLM, FLJ35755, IL-17RD	uc003dil.3	uc003dil.3	Q8NFM7	Q8NFM7	OTTHUMG00000150171	OTTHUMG00000150171	ENST00000296318.7:c.1901G>A	3.37:g.57131830C>T	ENSP00000296318:p.Arg634Gln		IL17RD_ENST00000320057.5_Missense_Mutation_p.R490Q|IL17RD_ENST00000463523.1_Missense_Mutation_p.R490Q|IL17RD_ENST00000427856.2_Missense_Mutation_p.R610Q	p.R634Q	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)	12	1989	-			634		Q2NKP7|Q58EZ7|Q6RVF4|Q6UWI5|Q8N113|Q8NFS0|Q9UFA0	Missense_Mutation	SNP	ENST00000296318.7	37	c.1901G>A	CCDS2880.2	.	.	.	.	.	.	.	.	.	.	C	9.532	1.111154	0.20714	.	.	ENSG00000144730	ENST00000296318;ENST00000320057;ENST00000427856;ENST00000463523	T;T;T;T	0.08896	3.05;3.04;3.04;3.04	5.4	-1.6	0.08426	5.4	-1.6	0.08426	.	1.456630	0.03805	N	0.265075	T	0.02848	0.0085	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.10296	0.003;0.001;0.001	B;B;B	0.04013	0.001;0.0;0.001	T	0.39961	-0.9588	10	0.08381	T	0.77	-0.9368	6.0973	0.20027	0.1292:0.2996:0.0:0.5712	.	490;634;610	B4DXM5;Q8NFM7;Q8NFM7-3	.;I17RD_HUMAN;.	Q	634;490;610;490	ENSP00000296318:R634Q;ENSP00000322250:R490Q;ENSP00000399209:R610Q;ENSP00000417516:R490Q	ENSP00000296318:R634Q	R	-	2	0	0	IL17RD	57106870	57106870	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.247000	0.08866	-0.225000	0.09913	-0.229000	0.12294	CGG		0.667	IL17RD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316680.1		20.353039	-9	-9	12	12	NM_017563		6	20.574593	20.574593	3	0.666667	0	0	0	1	0	6	3	0.666667
ZSCAN20	7579	broad.mit.edu	37	1	33960849	33960849	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:33960849C>T	ENST00000361328.3	+	8	3058	c.2905C>T	c.(2905-2907)Cgt>Tgt	p.R969C		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	969					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AAAATTCTTCCGTGACCGTTC	0.498																																						ENST00000361328.3											0			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31						c.(2905-2907)Cgt>Tgt	zinc finger and SCAN domain containing 20						86.0	98.0	94.0					1																	33960849		2133	4266	6399	SO:0001583	missense	7579			viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:33960849C>T	X52360	X52360	CCDS41300.1	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903	ENSG00000121903	ENSG00000121903		"""-"", ""Zinc fingers, C2H2-type"""	"""-"", ""Zinc fingers, C2H2-type"""	13093	13093	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611315	611315	"""zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31"""	ZNF360, ZNF31	"""zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31"""	ZNF360, ZNF31		2288909	2288909	Standard	Standard	NM_145238	NM_145238		Approved	KOX29	uc001bxj.4	uc001bxj.4	P17040	P17040	OTTHUMG00000004173	OTTHUMG00000004173	ENST00000361328.3:c.2905C>T	1.37:g.33960849C>T	ENSP00000355053:p.Arg969Cys			p.R969C	NM_145238.3	NP_660281	P17040	ZSC20_HUMAN			8	3058	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	969		A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Missense_Mutation	SNP	ENST00000361328.3	37	c.2905C>T	CCDS41300.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.645830	0.47258	.	.	ENSG00000121903	ENST00000326544;ENST00000361328;ENST00000401072	.	.	.	5.66	2.62	0.31277	5.66	2.62	0.31277	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.214120	0.33199	N	0.005163	T	0.56292	0.1975	M	0.65975	2.015	0.23391	N	0.997777	D;D	0.89917	1.0;1.0	P;D	0.79784	0.878;0.993	T	0.42565	-0.9444	9	0.56958	D	0.05	-10.9767	7.3491	0.26680	0.4334:0.4902:0.0:0.0764	.	968;969	P17040-3;P17040	.;ZSC20_HUMAN	C	969;903;903	.	ENSP00000324450:R969C	R	+	1	0	0	ZSCAN20	33733436	33733436	0.156000	0.22821	0.986000	0.45419	0.997000	0.91878	0.294000	0.19047	0.705000	0.31890	0.655000	0.94253	CGT		0.498	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2		62.429652	6	6	62	62	NM_145238		19	62.594908	62.594908	14	0.575758	0	0	0	1	0	19	14	0.575758
GLP1R	2740	broad.mit.edu	37	6	39053698	39053698	+	Missense_Mutation	SNP	G	G	A	rs368940624		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:39053698G>A	ENST00000373256.4	+	13	1284	c.1241G>A	c.(1240-1242)cGg>cAg	p.R414Q		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	414					activation of adenylate cyclase activity (GO:0007190)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|learning or memory (GO:0007611)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucagon receptor activity (GO:0004967)|transmembrane signaling receptor activity (GO:0004888)			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)|Liraglutide(DB06655)	CTGGAATTTCGGAAGAGCTGG	0.547																																						ENST00000373256.4											0			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31						c.(1240-1242)cGg>cAg	glucagon-like peptide 1 receptor	G	GLN/ARG	0,4406		0,0,2203	139.0	142.0	141.0		1241	5.3	1.0	6		141	1,8599	1.2+/-3.3	0,1,4299	no	missense	GLP1R	NM_002062.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	414/464	39053698	1,13005	2203	4300	6503	SO:0001583	missense	2740			activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled	g.chr6:39053698G>A			CCDS4839.1	CCDS4839.1	6p21	2012-08-10			2012-08-10			ENSG00000112164	ENSG00000112164	ENSG00000112164	ENSG00000112164		"""GPCR / Class B : Glucagon receptors"""	"""GPCR / Class B : Glucagon receptors"""	4324	4324	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			138032	138032								Standard	Standard	NM_002062	NM_002062		Approved		uc003ooj.4	uc003ooj.4	P43220	P43220	OTTHUMG00000014638	OTTHUMG00000014638	ENST00000373256.4:c.1241G>A	6.37:g.39053698G>A	ENSP00000362353:p.Arg414Gln			p.R414Q	NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN			13	1284	+			414		Q2M229|Q99669	Missense_Mutation	SNP	ENST00000373256.4	37	c.1241G>A	CCDS4839.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663489	0.47572	0.0	1.16E-4	ENSG00000112164	ENST00000373256	T	0.64803	-0.12	6.17	5.3	0.74995	6.17	5.3	0.74995	.	0.000000	0.64402	D	0.000009	T	0.36248	0.0960	L	0.45285	1.41	0.41956	D	0.990683	B	0.18610	0.029	B	0.17433	0.018	T	0.14392	-1.0474	10	0.22109	T	0.4	.	10.3961	0.44201	0.1911:0.0:0.8089:0.0	.	414	P43220	GLP1R_HUMAN	Q	414	ENSP00000362353:R414Q	ENSP00000362353:R414Q	R	+	2	0	0	GLP1R	39161676	39161676	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.976000	0.40579	2.941000	0.99782	0.655000	0.94253	CGG		0.547	GLP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040443.1		245.622614	-34	-34	213	213			75	245.6283	245.628300	77	0.493421	0	0	0	1	0	75	77	0.493421
TTBK1	84630	broad.mit.edu	37	6	43251679	43251679	+	Silent	SNP	G	G	A	rs376415608		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:43251679G>A	ENST00000259750.4	+	14	3284	c.3201G>A	c.(3199-3201)tcG>tcA	p.S1067S		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	1067					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			ACACGGGCTCGGAGCCCTCAG	0.677																																						ENST00000259750.4											0			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(3199-3201)tcG>tcA	tau tubulin kinase 1	G		4,4346		0,4,2171	22.0	22.0	22.0		3201	-10.5	0.2	6		22	0,8474		0,0,4237	no	coding-synonymous	TTBK1	NM_032538.1		0,4,6408	AA,AG,GG		0.0,0.092,0.0312		1067/1322	43251679	4,12820	2175	4237	6412	SO:0001819	synonymous_variant	84630				cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:43251679G>A	AB058758	AB058758	CCDS34455.1	CCDS34455.1	6p21.1	2008-02-05			2008-02-05			ENSG00000146216	ENSG00000146216	ENSG00000146216	ENSG00000146216				19140	19140	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										11347906	11347906	Standard	Standard	XM_006715229	XM_006715229		Approved	KIAA1855	uc003ouq.1	uc003ouq.1	Q5TCY1	Q5TCY1	OTTHUMG00000014725	OTTHUMG00000014725	ENST00000259750.4:c.3201G>A	6.37:g.43251679G>A				p.S1067S	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)		14	3284	+			1067		A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Silent	SNP	ENST00000259750.4	37	c.3201G>A	CCDS34455.1																																																																																									0.677	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3		25.197780	-3	-3	31	31			8	25.246163	25.246163	10	0.444444	0	0	0	1	0	8	10	0.444444
BIRC5	332	broad.mit.edu	37	17	76212052	76212052	+	Missense_Mutation	SNP	C	C	T	rs115296168		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:76212052C>T	ENST00000301633.4	+	3	358	c.227C>T	c.(226-228)cCg>cTg	p.P76L	BIRC5_ENST00000374948.2_Intron|BIRC5_ENST00000592734.1_Intron|BIRC5_ENST00000350051.3_Intron|AC087645.1_ENST00000600484.1_Intron	NM_001012271.1	NP_001012271.1	O15392	BIRC5_HUMAN	baculoviral IAP repeat containing 5	74					apoptotic process (GO:0006915)|cell division (GO:0051301)|chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|establishment of chromosome localization (GO:0051303)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of exit from mitosis (GO:0031536)|positive regulation of mitotic cell cycle (GO:0045931)|protein complex localization (GO:0031503)|protein phosphorylation (GO:0006468)|spindle checkpoint (GO:0031577)|transcription, DNA-templated (GO:0006351)	centriole (GO:0005814)|chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|interphase microtubule organizing center (GO:0031021)|microtubule (GO:0005874)|midbody (GO:0030496)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	chaperone binding (GO:0051087)|cobalt ion binding (GO:0050897)|cofactor binding (GO:0048037)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Ran GTPase binding (GO:0008536)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			kidney(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153)			TACAGTGggccgggcacggtg	0.582													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15769	0.0		0.0	False		,,,				2504	0.0					ENST00000301633.4											0			kidney(1)|urinary_tract(1)	2						c.(226-228)cCg>cTg	baculoviral IAP repeat containing 5	C	,LEU/PRO,	11,4395	17.9+/-39.9	0,11,2192	76.0	80.0	79.0		,227,	-0.7	0.0	17	dbSNP_132	79	0,8600		0,0,4300	yes	intron,missense,intron	BIRC5	NM_001012270.1,NM_001012271.1,NM_001168.2	,98,	0,11,6492	TT,TC,CC		0.0,0.2497,0.0846	,probably-damaging,	,76/166,	76212052	11,12995	2203	4300	6503	SO:0001583	missense	332			anti-apoptosis|apoptosis|cell division|chromosome segregation|cytokinesis|establishment of chromosome localization|G2/M transition of mitotic cell cycle|mitosis|mitotic prometaphase|positive regulation of exit from mitosis|positive regulation of mitotic cell cycle|protein complex localization|spindle checkpoint	centriole|chromosome passenger complex|chromosome, centromeric region|cytoplasm|cytoplasmic microtubule|cytosol|interphase microtubule organizing center|midbody|nuclear chromosome|spindle|spindle microtubule	caspase inhibitor activity|chaperone binding|cobalt ion binding|cofactor binding|cysteine-type endopeptidase inhibitor activity|metal ion binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|Ran GTPase binding|zinc ion binding	g.chr17:76212052C>T	U75285	U75285	CCDS11755.1, CCDS32751.1, CCDS32752.1	CCDS11755.1, CCDS32751.1, CCDS32752.1	17q25.3	2013-01-17	2011-01-25		2013-01-17	2011-01-25		ENSG00000089685	ENSG00000089685	ENSG00000089685	ENSG00000089685		"""Baculoviral IAP repeat containing"""	"""Baculoviral IAP repeat containing"""	593	593	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""survivin variant 3 alpha"""	"""survivin variant 3 alpha"""	603352	603352	"""apoptosis inhibitor 4"", ""baculoviral IAP repeat-containing 5"""	API4	"""apoptosis inhibitor 4"", ""baculoviral IAP repeat-containing 5"""	API4		8106347, 7947793	8106347, 7947793	Standard	Standard	XR_243654	XR_243654		Approved	EPR-1, survivin	uc002jvf.3	uc002jvf.3	O15392	O15392			ENST00000301633.4:c.227C>T	17.37:g.76212052C>T	ENSP00000301633:p.Pro76Leu		BIRC5_ENST00000350051.3_Intron|BIRC5_ENST00000374948.2_Intron|BIRC5_ENST00000592734.1_Intron|AC087645.1_ENST00000600484.1_Intron	p.P76L	NM_001012271.1	NP_001012271.1	O15392	BIRC5_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153)		3	358	+			74		A2SUH6|B2R4R1|Q2I3N8|Q4VGX0|Q53F61|Q5MGC6|Q6FHL2|Q75SP2|Q9P2W8	Missense_Mutation	SNP	ENST00000301633.4	37	c.227C>T	CCDS32752.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	5.906	0.351257	0.11182	0.002497	0.0	ENSG00000089685	ENST00000301633;ENST00000432014	T	0.64803	-0.12	0.352	-0.704	0.11256	0.352	-0.704	0.11256	.	.	.	.	.	T	0.60340	0.2261	L	0.28400	0.85	0.09310	N	1	D;D	0.63046	0.99;0.992	P;D	0.63283	0.859;0.913	T	0.51140	-0.8743	8	0.51188	T	0.08	.	.	.	.	.	76;53	O15392-2;A3E0Z5	.;.	L	76	ENSP00000301633:P76L	ENSP00000301633:P76L	P	+	2	0	0	BIRC5	73723647	73723647	0.001000	0.12720	0.001000	0.08648	0.036000	0.12997	-0.277000	0.08502	-0.424000	0.07382	0.121000	0.15741	CCG		0.582	BIRC5-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000437234.3		55.446130	-13	-13	50	50	NM_001168		20	55.945671	55.945671	31	0.392157	0	0	0	1	0	20	31	0.392157
PVRL1	5818	broad.mit.edu	37	11	119535574	119535574	+	Silent	SNP	G	G	A	rs141036439		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:119535574G>A	ENST00000264025.3	-	6	1967	c.1437C>T	c.(1435-1437)gaC>gaT	p.D479D	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	479					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CCCCGTAGCCGTCCTGACGGG	0.627																																						ENST00000264025.3											0			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1435-1437)gaC>gaT	poliovirus receptor-related 1 (herpesvirus entry mediator C)						53.0	48.0	49.0					11																	119535574		2199	4295	6494	SO:0001819	synonymous_variant	5818			adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr11:119535574G>A	X76400	X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400	ENSG00000110400	ENSG00000110400		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9706	9706	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""nectin"""	"""nectin"""	600644	600644		HVEC, ED4		HVEC, ED4		7721102, 9616127	7721102, 9616127	Standard	Standard	NM_203285	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	uc001pwv.3	Q15223	Q15223	OTTHUMG00000166177	OTTHUMG00000166177	ENST00000264025.3:c.1437C>T	11.37:g.119535574G>A			PVRL1_ENST00000341398.2_Intron	p.D479D	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)	6	1967	-		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	479		O75465|Q2M3D3|Q9HBE6|Q9HBW2	Silent	SNP	ENST00000264025.3	37	c.1437C>T	CCDS8426.1																																																																																									0.627	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1		5.784922	-3	-3	36	36			4	8.992273	8.992273	23	0.148148	0	0	0	1	0	4	23	0.148148
RERE	473	broad.mit.edu	37	1	8716302	8716302	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:8716302G>A	ENST00000337907.3	-	3	689	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W	RERE_ENST00000400907.2_Missense_Mutation_p.R19W|RERE_ENST00000400908.2_Missense_Mutation_p.R19W	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	19					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		tctcggtcccggtctcggtcc	0.527																																						ENST00000337907.3											0			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(55-57)Cgg>Tgg	arginine-glutamic acid dipeptide (RE) repeats						148.0	154.0	152.0					1																	8716302		2203	4300	6503	SO:0001583	missense	473			multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8716302G>A	AF016005	AF016005	CCDS95.1, CCDS41243.1	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			2013-01-25			ENSG00000142599	ENSG00000142599	ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	"""GATA zinc finger domain containing"""	9965	9965	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605226	605226		ATN1L		ATN1L		10814707, 10729226	10814707, 10729226	Standard	Standard	NM_012102	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	uc001apf.3	Q9P2R6	Q9P2R6	OTTHUMG00000001765	OTTHUMG00000001765	ENST00000337907.3:c.55C>T	1.37:g.8716302G>A	ENSP00000338629:p.Arg19Trp		RERE_ENST00000400908.2_Missense_Mutation_p.R19W|RERE_ENST00000400907.2_Missense_Mutation_p.R19W	p.R19W	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	3	689	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	19		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	c.55C>T	CCDS95.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244346	0.59103	.	.	ENSG00000142599	ENST00000337907;ENST00000400907;ENST00000400908	T;T	0.52526	0.66;0.66	5.45	2.34	0.29019	5.45	2.34	0.29019	.	.	.	.	.	T	0.52948	0.1766	N	0.24115	0.695	0.48395	D	0.999647	D	0.89917	1.0	D	0.77557	0.99	T	0.56944	-0.7895	9	0.87932	D	0	-17.8329	13.5119	0.61517	0.0:0.0:0.5942:0.4058	.	19	Q9P2R6	RERE_HUMAN	W	19	ENSP00000338629:R19W;ENSP00000383700:R19W	ENSP00000338629:R19W	R	-	1	2	2	RERE	8638889	8638889	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	2.103000	0.41806	0.623000	0.30267	0.557000	0.71058	CGG		0.527	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1		6.075724	-33	-33	130	130			10	23.593272	23.593272	96	0.094340	0	0	0	1	0	10	96	0.09434
FMNL1	752	broad.mit.edu	37	17	43320614	43320614	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:43320614C>T	ENST00000331495.3	+	17	2476	c.2140C>T	c.(2140-2142)Cgg>Tgg	p.R714W	CTD-2020K17.3_ENST00000393507.2_RNA|FMNL1_ENST00000587489.1_Missense_Mutation_p.R292W|CTD-2020K17.4_ENST00000420431.2_RNA|FMNL1_ENST00000328118.3_Missense_Mutation_p.R714W|CTD-2020K17.3_ENST00000587534.1_RNA	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	714	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						TGAGGCCAACCGGGCCAAGAA	0.627																																					GBM(164;1247 1997 8702 11086 51972)	ENST00000331495.3											0			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						c.(2140-2142)Cgg>Tgg	formin-like 1						71.0	69.0	70.0					17																	43320614		2203	4300	6503	SO:0001583	missense	752			actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr17:43320614C>T	AJ008112	AJ008112	CCDS11497.1	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922		ENSG00000184922				1212	1212	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604656	604656	"""formin-like"""	C17orf1B, FMNL	"""formin-like"""	C17orf1B, FMNL		9799091	9799091	Standard	Standard	NM_005892	NM_005892		Approved	C17orf1	uc002iin.3	uc002iin.3	O95466	O95466			ENST00000331495.3:c.2140C>T	17.37:g.43320614C>T	ENSP00000329219:p.Arg714Trp		FMNL1_ENST00000328118.3_Missense_Mutation_p.R714W|FMNL1_ENST00000587489.1_Missense_Mutation_p.R292W	p.R714W	NM_005892.3	NP_005883	O95466	FMNL_HUMAN			17	2476	+			714	FH2.	D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Missense_Mutation	SNP	ENST00000331495.3	37	c.2140C>T	CCDS11497.1	.	.	.	.	.	.	.	.	.	.	c	18.97	3.735048	0.69189	.	.	ENSG00000184922	ENST00000328118;ENST00000331495;ENST00000539884	T;T	0.22336	1.96;1.96	4.24	2.13	0.27403	4.24	2.13	0.27403	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.106801	0.64402	D	0.000010	T	0.53498	0.1800	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63501	-0.6623	10	0.87932	D	0	.	11.7488	0.51837	0.4334:0.5666:0.0:0.0	.	714	O95466	FMNL_HUMAN	W	714;714;369	ENSP00000327442:R714W;ENSP00000329219:R714W	ENSP00000327442:R714W	R	+	1	2	2	FMNL1	40676397	40676397	0.999000	0.42202	1.000000	0.80357	0.927000	0.56198	0.686000	0.25392	0.484000	0.27630	0.436000	0.28706	CGG		0.627	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450198.1		8.919293	21	21	88	88	NM_005892		6	14.791251	14.791251	39	0.133333	0	0	0	1	0	6	39	0.133333
KIAA1462	57608	broad.mit.edu	37	10	30318556	30318556	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr10:30318556C>T	ENST00000375377.1	-	3	622	c.521G>A	c.(520-522)cGa>cAa	p.R174Q		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	174					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ACCTGACATTCGCAATTCTTC	0.547																																						ENST00000375377.1											0			breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						c.(520-522)cGa>cAa	KIAA1462						258.0	254.0	255.0					10																	30318556		2095	4209	6304	SO:0001583	missense	57608						g.chr10:30318556C>T	AB040895	AB040895	CCDS41500.1	CCDS41500.1	10p12.1	2013-04-23			2013-04-23			ENSG00000165757	ENSG00000165757	ENSG00000165757	ENSG00000165757				29283	29283	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	"""junctional protein associated with coronary artery disease"""	614398	614398						10819331, 21884682	10819331, 21884682	Standard	Standard	NM_020848	NM_020848		Approved	JCAD	uc001iux.3	uc001iux.3	Q9P266	Q9P266	OTTHUMG00000017885	OTTHUMG00000017885	ENST00000375377.1:c.521G>A	10.37:g.30318556C>T	ENSP00000364526:p.Arg174Gln			p.R174Q	NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN			3	622	-			174		Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	c.521G>A	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.858732	0.51376	.	.	ENSG00000165757	ENST00000375377	T	0.14266	2.52	5.36	4.35	0.52113	5.36	4.35	0.52113	.	0.241615	0.38959	N	0.001507	T	0.20170	0.0485	L	0.60455	1.87	0.31077	N	0.712407	D	0.76494	0.999	P	0.55871	0.786	T	0.18713	-1.0328	10	0.45353	T	0.12	-14.9531	2.987	0.05971	0.0:0.4948:0.307:0.1982	.	174	Q9P266	K1462_HUMAN	Q	174	ENSP00000364526:R174Q	ENSP00000364526:R174Q	R	-	2	0	0	KIAA1462	30358562	30358562	0.122000	0.22280	0.821000	0.32701	0.016000	0.09150	3.185000	0.50934	2.508000	0.84585	0.655000	0.94253	CGA		0.547	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1		2.853603	-43	-43	177	177	NM_020848		13	29.85558	29.855580	141	0.084416	0	0	0	1	0	13	141	0.084416
VWA2	340706	broad.mit.edu	37	10	116048825	116048825	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr10:116048825G>A	ENST00000392982.3	+	12	1949	c.1699G>A	c.(1699-1701)Gtg>Atg	p.V567M	VWA2_ENST00000603594.1_Missense_Mutation_p.V567M			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	567	VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		GAACCCTGACGTGACACAGGT	0.592																																						ENST00000603594.1											0			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26						c.(1699-1701)Gtg>Atg	von Willebrand factor A domain containing 2						72.0	66.0	68.0					10																	116048825		2203	4300	6503	SO:0001583	missense	340706				extracellular region		g.chr10:116048825G>A	AK127756	AK127756	CCDS7589.1, CCDS7589.2	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			2009-11-06			ENSG00000165816	ENSG00000165816	ENSG00000165816	ENSG00000165816				24709	24709	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										15580307, 14506275	15580307, 14506275	Standard	Standard	NM_001272046	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	uc001lbl.2	Q5GFL6	Q5GFL6	OTTHUMG00000019082	OTTHUMG00000019082	ENST00000392982.3:c.1699G>A	10.37:g.116048825G>A	ENSP00000376708:p.Val567Met		VWA2_ENST00000392982.3_Missense_Mutation_p.V567M	p.V567M	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN		Epithelial(162;0.036)|all cancers(201;0.0793)	12	2020	+			567	VWFA 3.	A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Missense_Mutation	SNP	ENST00000392982.3	37	c.1699G>A		.	.	.	.	.	.	.	.	.	.	G	15.87	2.959384	0.53400	.	.	ENSG00000165816	ENST00000392982;ENST00000298715	T	0.77750	-1.12	5.43	4.53	0.55603	5.43	4.53	0.55603	von Willebrand factor, type A (3);	0.074249	0.53938	D	0.000042	D	0.85932	0.5812	M	0.70275	2.135	0.33620	D	0.604673	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.965;1.0;0.999	D	0.89553	0.3801	10	0.48119	T	0.1	.	12.1829	0.54221	0.0797:0.0:0.9203:0.0	.	263;567;567	Q5GFL6-3;Q5GFL6;Q5GFL6-2	.;VWA2_HUMAN;.	M	567	ENSP00000376708:V567M	ENSP00000298715:V567M	V	+	1	0	0	VWA2	116038815	116038815	1.000000	0.71417	0.853000	0.33588	0.402000	0.30811	5.569000	0.67391	1.297000	0.44761	-0.140000	0.14226	GTG		0.592	VWA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050456.3		51.505132	-4	-4	34	34	NM_198496		16	51.573246	51.573246	13	0.551724	0	0	0	1	0	16	13	0.551724
GRHL3	57822	broad.mit.edu	37	1	24669203	24669203	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:24669203G>A	ENST00000350501.5	+	10	1353	c.1226G>A	c.(1225-1227)cGc>cAc	p.R409H	GRHL3_ENST00000342072.4_Missense_Mutation_p.R316H|GRHL3_ENST00000236255.4_Missense_Mutation_p.R414H|GRHL3_ENST00000356046.2_Missense_Mutation_p.R363H|GRHL3_ENST00000361548.4_Missense_Mutation_p.R409H	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	409					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		AGGAAGATGCGCGATGACGAG	0.607																																						ENST00000361548.4											0			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1225-1227)cGc>cAc	grainyhead-like 3 (Drosophila)						91.0	91.0	91.0					1																	24669203		2203	4300	6503	SO:0001583	missense	57822			regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:24669203G>A	AY231161	AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055	ENSG00000158055	ENSG00000158055				25839	25839	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608317	608317	"""transcription factor CP2-like 4"""	TFCP2L4	"""transcription factor CP2-like 4"""	TFCP2L4		12549979	12549979	Standard	Standard	NM_021180	NM_021180		Approved	SOM	uc021oiw.1	uc021oiw.1	Q8TE85	Q8TE85	OTTHUMG00000003040	OTTHUMG00000003040	ENST00000350501.5:c.1226G>A	1.37:g.24669203G>A	ENSP00000288955:p.Arg409His		GRHL3_ENST00000342072.4_Missense_Mutation_p.R316H|GRHL3_ENST00000356046.2_Missense_Mutation_p.R363H|GRHL3_ENST00000350501.5_Missense_Mutation_p.R409H|GRHL3_ENST00000236255.4_Missense_Mutation_p.R414H	p.R409H	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)	10	1456	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	409		A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Missense_Mutation	SNP	ENST00000350501.5	37	c.1226G>A	CCDS252.2	.	.	.	.	.	.	.	.	.	.	G	33	5.252673	0.95336	.	.	ENSG00000158055	ENST00000361548;ENST00000342072;ENST00000350501;ENST00000356046;ENST00000236255	T;T;T;T;T	0.18810	2.19;2.19;2.19;2.19;2.19	4.96	4.96	0.65561	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.49541	0.1563	M	0.80616	2.505	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.69824	0.963;0.966;0.966	T	0.54964	-0.8214	10	0.87932	D	0	-26.275	17.3827	0.87408	0.0:0.0:1.0:0.0	.	363;414;409	A2A297;Q8TE85-2;G3XAF0	.;.;.	H	409;316;409;363;414	ENSP00000354943:R409H;ENSP00000340543:R316H;ENSP00000288955:R409H;ENSP00000348333:R363H;ENSP00000236255:R414H	ENSP00000236255:R414H	R	+	2	0	0	GRHL3	24541790	24541790	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.306000	0.96204	2.585000	0.87301	0.655000	0.94253	CGC		0.607	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2		43.724237	0	0	112	112	NM_021180		16	45.702628	45.702628	38	0.296296	0	0	0	1	0	16	38	0.296296
ZNF423	23090	broad.mit.edu	37	16	49669602	49669602	+	Missense_Mutation	SNP	C	C	T	rs532940886		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:49669602C>T	ENST00000561648.1	-	4	3514	c.3461G>A	c.(3460-3462)cGg>cAg	p.R1154Q	ZNF423_ENST00000562520.1_Missense_Mutation_p.R1094Q|ZNF423_ENST00000563137.2_Missense_Mutation_p.R1094Q|ZNF423_ENST00000262383.2_Missense_Mutation_p.R1154Q|ZNF423_ENST00000535559.1_Missense_Mutation_p.R1037Q|ZNF423_ENST00000562871.1_Missense_Mutation_p.R1094Q|ZNF423_ENST00000567169.1_Missense_Mutation_p.R1037Q	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1154					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GGTGCCTTTCCGGGGCCCACT	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		15875	0.001		0.0	False		,,,				2504	0.0					ENST00000561648.1											0			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89						c.(3460-3462)cGg>cAg	zinc finger protein 423						73.0	65.0	68.0					16																	49669602		2199	4300	6499	SO:0001583	missense	23090			cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49669602C>T	AB018303	AB018303	CCDS32445.1, CCDS61930.1	CCDS32445.1, CCDS61930.1	16q12	2014-01-28			2014-01-28				ENSG00000102935		ENSG00000102935		"""Zinc fingers, C2H2-type"""	"""Zinc fingers, C2H2-type"""	16762	16762	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557	604557						9872452, 10660046	9872452, 10660046	Standard	Standard	NM_001271620	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	uc031qwd.1	Q2M1K9	Q2M1K9			ENST00000561648.1:c.3461G>A	16.37:g.49669602C>T	ENSP00000455426:p.Arg1154Gln		ZNF423_ENST00000562871.1_Missense_Mutation_p.R1094Q|ZNF423_ENST00000562520.1_Missense_Mutation_p.R1094Q|ZNF423_ENST00000535559.1_Missense_Mutation_p.R1037Q|ZNF423_ENST00000567169.1_Missense_Mutation_p.R1037Q|ZNF423_ENST00000563137.2_Missense_Mutation_p.R1094Q|ZNF423_ENST00000262383.2_Missense_Mutation_p.R1154Q	p.R1154Q	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN			4	3514	-		all_cancers(37;0.0155)	1154		O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.3461G>A	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	C	6.234	0.411350	0.11812	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.08370	3.1;3.14	5.04	5.04	0.67666	5.04	5.04	0.67666	.	0.162594	0.53938	D	0.000047	T	0.04634	0.0126	N	0.08118	0	0.30752	N	0.744979	B	0.21309	0.054	B	0.17433	0.018	T	0.21552	-1.0242	9	.	.	.	-11.3172	12.7995	0.57578	0.0:0.9215:0.0:0.0785	.	1154	Q2M1K9	ZN423_HUMAN	Q	1154;1037	ENSP00000262383:R1154Q;ENSP00000442321:R1037Q	.	R	-	2	0	0	ZNF423	48227103	48227103	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	1.803000	0.38863	2.344000	0.79699	0.561000	0.74099	CGG		0.647	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1		47.454293	-16	-16	92	92	NM_015069		17	49.240682	49.240682	38	0.309091	0	0	0	1	0	17	38	0.309091
PCDHGA6	56109	broad.mit.edu	37	5	140754748	140754748	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:140754748C>T	ENST00000517434.1	+	1	1098	c.1098C>T	c.(1096-1098)atC>atT	p.I366I	PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	366	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACAGTAATCGCCCTTTTTC	0.433																																						ENST00000517434.1											0			breast(1)|large_intestine(1)	2						c.(1096-1098)atC>atT							93.0	95.0	95.0					5																	140754748		1916	4136	6052	SO:0001819	synonymous_variant	0						g.chr5:140754748C>T	AF152513	AF152513	CCDS54926.1, CCDS75335.1	CCDS54926.1, CCDS75335.1	5q31	2010-01-26			2010-01-26				ENSG00000253731		ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	"""Cadherins / Protocadherins : Clustered"""	8704	8704	other	protocadherin	other	protocadherin			606293	606293						10380929	10380929	Standard	Standard	NM_018919	NM_018919		Approved	PCDH-GAMMA-A6			Q9Y5G7	Q9Y5G7			ENST00000517434.1:c.1098C>T	5.37:g.140754748C>T			PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.I366I	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1098	+					A6H8K7|B2RN55|Q9Y5D1	Silent	SNP	ENST00000517434.1	37	c.1098C>T	CCDS54926.1																																																																																									0.433	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1		-2.043902	-18	-18	63	63	NM_018919		4	8.822103	8.822103	53	0.070175	0	0	0	1	0	4	53	0.070175
COL9A2	1298	broad.mit.edu	37	1	40776803	40776803	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:40776803G>A	ENST00000372748.3	-	12	688	c.592C>T	c.(592-594)Cgc>Tgc	p.R198C		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	198	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			AGAATCCCGCGTTTGCCCGCA	0.622																																						ENST00000372748.3											0			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22						c.(592-594)Cgc>Tgc	collagen, type IX, alpha 2						146.0	123.0	131.0					1																	40776803		2203	4300	6503	SO:0001583	missense	1298			axon guidance|skeletal system development	collagen type IX		g.chr1:40776803G>A	M95610	M95610	CCDS450.1	CCDS450.1	1p33-p32	2013-01-16			2013-01-16			ENSG00000049089	ENSG00000049089	ENSG00000049089	ENSG00000049089		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2218	2218	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			120260	120260		EDM2		EDM2		8454052, 8528240, 1429648	8454052, 8528240, 1429648	Standard	Standard	NM_001852	NM_001852		Approved	MED	uc001cfh.1	uc001cfh.1	Q14055	Q14055	OTTHUMG00000005761	OTTHUMG00000005761	ENST00000372748.3:c.592C>T	1.37:g.40776803G>A	ENSP00000361834:p.Arg198Cys			p.R198C	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)		12	688	-	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	198	Triple-helical region 3 (COL3).	B2RMP9	Missense_Mutation	SNP	ENST00000372748.3	37	c.592C>T	CCDS450.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	17.41|17.41	3.382468|3.382468	0.61845|0.61845	.|.	.|.	ENSG00000049089|ENSG00000049089	ENST00000372748|ENST00000417105	D|.	0.94376|.	-3.41|.	5.63|5.63	3.71|3.71	0.42584|0.42584	5.63|5.63	3.71|3.71	0.42584|0.42584	.|.	0.409517|.	0.26196|.	N|.	0.025765|.	T|T	0.59183|0.59183	0.2175|0.2175	M|M	0.78801|0.78801	2.425|2.425	0.09310|0.09310	N|N	1|1	D|.	0.59357|.	0.985|.	P|.	0.51101|.	0.659|.	T|T	0.51092|0.51092	-0.8749|-0.8749	10|5	0.66056|.	D|.	0.02|.	.|.	11.4791|11.4791	0.50316|0.50316	0.0:0.0:0.6746:0.3254|0.0:0.0:0.6746:0.3254	.|.	198|.	Q14055|.	CO9A2_HUMAN|.	C|M	198|186	ENSP00000361834:R198C|.	ENSP00000361834:R198C|.	R|T	-|-	1|2	0|0	0|0	COL9A2|COL9A2	40549390|40549390	40549390|40549390	0.078000|0.078000	0.21339|0.21339	0.036000|0.036000	0.18154|0.18154	0.150000|0.150000	0.21749|0.21749	1.534000|1.534000	0.36051|0.36051	0.699000|0.699000	0.31761|0.31761	0.558000|0.558000	0.71614|0.71614	CGC|ACG		0.622	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015764.3		23.090744	-11	-11	41	41	NM_001852		8	23.947601	23.947601	18	0.307692	0	0	0	1	0	8	18	0.307692
FOXS1	2307	broad.mit.edu	37	20	30433147	30433147	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr20:30433147G>A	ENST00000375978.3	-	1	273	c.199C>T	c.(199-201)Cgc>Tgc	p.R67C		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	67					blood vessel development (GO:0001568)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|positive regulation of multicellular organism growth (GO:0040018)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						AGGTTGTGGCGGATGCTGTTC	0.642																																						ENST00000375978.3											0			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						c.(199-201)Cgc>Tgc	forkhead box S1						85.0	69.0	74.0					20																	30433147		2203	4300	6503	SO:0001583	missense	2307			anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr20:30433147G>A	AF042831	AF042831	CCDS13192.1	CCDS13192.1	20q11.1-q11.2	2008-04-10	2008-04-10	2008-04-10	2008-04-10	2008-04-10	2008-04-10	ENSG00000179772	ENSG00000179772	ENSG00000179772	ENSG00000179772		"""Forkhead boxes"""	"""Forkhead boxes"""	3735	3735	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602939	602939	"""forkhead (Drosophila)-like 18"", ""forkhead-like 18 (Drosophila)"""	FKHL18	"""forkhead (Drosophila)-like 18"", ""forkhead-like 18 (Drosophila)"""	FKHL18		9325056, 17062144	9325056, 17062144	Standard	Standard	NM_004118	NM_004118		Approved	FREAC10	uc002wwt.1	uc002wwt.1	O43638	O43638	OTTHUMG00000032183	OTTHUMG00000032183	ENST00000375978.3:c.199C>T	20.37:g.30433147G>A	ENSP00000365145:p.Arg67Cys			p.R67C	NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN			1	273	-			67		Q96D28	Missense_Mutation	SNP	ENST00000375978.3	37	c.199C>T	CCDS13192.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765813	0.69878	.	.	ENSG00000179772	ENST00000375978	D	0.98120	-4.73	4.76	4.76	0.60689	4.76	4.76	0.60689	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);Transcription factor, fork head, conserved site (1);	0.000000	0.47093	D	0.000245	D	0.99315	0.9760	H	0.99642	4.675	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98085	1.0406	10	0.87932	D	0	.	11.7085	0.51612	0.0:0.0:0.8232:0.1768	.	67	O43638	FOXS1_HUMAN	C	67	ENSP00000365145:R67C	ENSP00000365145:R67C	R	-	1	0	0	FOXS1	29896808	29896808	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.058000	0.49939	2.484000	0.83849	0.555000	0.69702	CGC		0.642	FOXS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078560.2		-0.004776	-6	-6	87	87	NM_004118		3	6.875698	6.875698	35	0.078947	0	0	0	1	0	3	35	0.078947
PLA2G6	8398	broad.mit.edu	37	22	38531030	38531030	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr22:38531030C>T	ENST00000332509.3	-	6	1042	c.859G>A	c.(859-861)Gga>Aga	p.G287R	PLA2G6_ENST00000402064.1_Missense_Mutation_p.G287R|PLA2G6_ENST00000335539.3_Missense_Mutation_p.G287R	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	287					cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)			breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	GGGCTGGCTCCGTAACGGGGG	0.662																																						ENST00000332509.3											0			breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24						c.(859-861)Gga>Aga	phospholipase A2, group VI (cytosolic, calcium-independent)						55.0	56.0	56.0					22																	38531030		2203	4300	6503	SO:0001583	missense	8398			cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane		g.chr22:38531030C>T	AF064594	AF064594	CCDS13967.1, CCDS33645.1	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			2013-01-10			ENSG00000184381	ENSG00000184381	ENSG00000184381	ENSG00000184381	3.1.1.4	"""Patatin-like phospholipase domain containing"", ""Parkinson disease"", ""Ankyrin repeat domain containing"""	"""Patatin-like phospholipase domain containing"", ""Parkinson disease"", ""Ankyrin repeat domain containing"""	9039	9039	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 2"""	"""neurodegeneration with brain iron accumulation 2"""	603604	603604						9417066, 16799181, 19029121	9417066, 16799181, 19029121	Standard	Standard	NM_001199562	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	uc003aux.1	O60733	O60733	OTTHUMG00000151246	OTTHUMG00000151246	ENST00000332509.3:c.859G>A	22.37:g.38531030C>T	ENSP00000333142:p.Gly287Arg		PLA2G6_ENST00000402064.1_Missense_Mutation_p.G287R|PLA2G6_ENST00000335539.3_Missense_Mutation_p.G287R	p.G287R	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN			6	1042	-	Melanoma(58;0.045)		287		A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Missense_Mutation	SNP	ENST00000332509.3	37	c.859G>A	CCDS13967.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.821662	0.90873	.	.	ENSG00000184381	ENST00000332509;ENST00000419848;ENST00000335539;ENST00000402064;ENST00000335538;ENST00000396860;ENST00000451461	T;T;T	0.59772	0.24;0.24;0.24	5.67	5.67	0.87782	5.67	5.67	0.87782	Ankyrin repeat-containing domain (3);	0.154883	0.64402	D	0.000018	T	0.77980	0.4212	M	0.85041	2.73	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.70935	0.962;0.884;0.971	T	0.81254	-0.1016	10	0.87932	D	0	-11.6042	15.2807	0.73781	0.0:0.8604:0.1396:0.0	.	252;287;287	B7Z6K3;O60733-2;O60733	.;.;PA2G6_HUMAN	R	287;148;287;287;215;287;252	ENSP00000333142:G287R;ENSP00000335149:G287R;ENSP00000386100:G287R	ENSP00000333142:G287R	G	-	1	0	0	PLA2G6	36860976	36860976	0.994000	0.37717	0.985000	0.45067	0.948000	0.59901	4.085000	0.57657	2.667000	0.90743	0.561000	0.74099	GGA		0.662	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1		31.915636	-11	-11	37	37	NM_001004426		11	32.491534	32.491534	20	0.354839	0	0	0	1	0	11	20	0.354839
KIAA0586	9786	broad.mit.edu	37	14	58932657	58932657	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr14:58932657G>A	ENST00000556134.1	+	16	2393	c.2119G>A	c.(2119-2121)Gat>Aat	p.D707N	KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000261244.5_Missense_Mutation_p.D646N|KIAA0586_ENST00000354386.6_Missense_Mutation_p.D775N|KIAA0586_ENST00000423743.3_Missense_Mutation_p.D678N	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	707					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACCTCATGGCGATCAGCAATA	0.368																																						ENST00000423743.3											0			endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2032-2034)Gat>Aat	KIAA0586						166.0	159.0	161.0					14																	58932657		1897	4110	6007	SO:0001583	missense	9786						g.chr14:58932657G>A	AB011158	AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			2012-12-06			ENSG00000100578	ENSG00000100578	ENSG00000100578	ENSG00000100578				19960	19960	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610178	610178						16702409	16702409	Standard	Standard	NM_014749	NM_014749		Approved	Talpid3	uc010trr.2	uc010trr.2	Q9BVV6	Q9BVV6	OTTHUMG00000171141	OTTHUMG00000171141	ENST00000556134.1:c.2119G>A	14.37:g.58932657G>A	ENSP00000452351:p.Asp707Asn		KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Missense_Mutation_p.D775N|KIAA0586_ENST00000261244.5_Missense_Mutation_p.D646N|KIAA0586_ENST00000556134.1_Missense_Mutation_p.D707N	p.D678N	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN			16	2290	+			646		B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Missense_Mutation	SNP	ENST00000556134.1	37	c.2032G>A	CCDS58321.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.045182	0.75846	.	.	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000423743;ENST00000261244;ENST00000546216	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.37	4.47	0.54385	5.37	4.47	0.54385	.	0.973374	0.08476	N	0.940335	T	0.49915	0.1585	L	0.27053	0.805	0.09310	N	0.999998	P;P;P;D;P;P	0.61697	0.907;0.907;0.948;0.99;0.907;0.948	B;B;B;P;B;B	0.51016	0.187;0.187;0.325;0.656;0.187;0.246	T	0.50448	-0.8827	10	0.66056	D	0.02	.	15.4404	0.75178	0.0:0.3258:0.6742:0.0	.	582;582;775;646;707;678	F5GWA3;B7Z7W7;E7EWM8;E9PGW8;Q9BVV6;Q6UV20	.;.;.;.;K0586_HUMAN;.	N	775;707;678;646;582	ENSP00000346359:D775N;ENSP00000452351:D707N;ENSP00000399427:D678N;ENSP00000261244:D646N	ENSP00000261244:D646N	D	+	1	0	0	KIAA0586	58002410	58002410	0.260000	0.24053	0.071000	0.20095	0.316000	0.28119	2.676000	0.46883	1.225000	0.43566	0.655000	0.94253	GAT		0.368	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1		12.925203	-10	-10	77	77	NM_014749		9	22.097437	22.097437	60	0.130435	0	0	0	1	0	9	60	0.130435
DGKQ	1609	broad.mit.edu	37	4	955530	955530	+	Missense_Mutation	SNP	C	C	T	rs143203696		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr4:955530C>T	ENST00000273814.3	-	20	2481	c.2408G>A	c.(2407-2409)cGg>cAg	p.R803Q	DGKQ_ENST00000502309.1_5'Flank	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	803					blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to ATP (GO:0033198)|thrombin receptor signaling pathway (GO:0070493)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|phospholipase binding (GO:0043274)			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CACCTCCTGCCGCTCCACCTG	0.647													c|||	1	0.000199681	0.0008	0.0	5008	,	,		15333	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(17;537 645 4447 26373)	ENST00000273814.3											0			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9						c.(2407-2409)cGg>cAg	diacylglycerol kinase, theta 110kDa		GLN/ARG	4,4402	8.1+/-20.4	0,4,2199	56.0	61.0	60.0		2408	-0.4	1.0	4	dbSNP_134	60	0,8600		0,0,4300	no	missense	DGKQ	NM_001347.2	43	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	benign	803/943	955530	4,13002	2203	4300	6503	SO:0001583	missense	1609			activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding	g.chr4:955530C>T	L38707	L38707	CCDS3342.1	CCDS3342.1	4p16.3	2008-08-29	2002-08-29		2008-08-29	2002-08-29		ENSG00000145214	ENSG00000145214	ENSG00000145214	ENSG00000145214				2856	2856	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601207	601207	"""diacylglycerol kinase, theta (110kD)"""	DAGK4	"""diacylglycerol kinase, theta (110kD)"""	DAGK4		8617502, 9099683	8617502, 9099683	Standard	Standard	NM_001347	NM_001347		Approved	DAGK, DAGK7	uc003gbw.4	uc003gbw.4	P52824	P52824	OTTHUMG00000088629	OTTHUMG00000088629	ENST00000273814.3:c.2408G>A	4.37:g.955530C>T	ENSP00000273814:p.Arg803Gln			p.R803Q	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		20	2481	-			803		Q6P3W4	Missense_Mutation	SNP	ENST00000273814.3	37	c.2408G>A	CCDS3342.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.97|11.97	1.797748|1.797748	0.31777|0.31777	9.08E-4|9.08E-4	0.0|0.0	ENSG00000145214|ENSG00000145214	ENST00000509465|ENST00000273814	.|T	.|0.41400	.|1.0	5.27|5.27	-0.454|-0.454	0.12197|0.12197	5.27|5.27	-0.454|-0.454	0.12197|0.12197	.|Diacylglycerol kinase, accessory domain (2);	.|0.543849	.|0.21430	.|N	.|0.074670	T|T	0.15522|0.15522	0.0374|0.0374	N|N	0.02539|0.02539	-0.55|-0.55	0.20975|0.20975	N|N	0.999811|0.999811	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.06405	.|0.002;0.001	T|T	0.19976|0.19976	-1.0289|-1.0289	5|10	.|0.30854	.|T	.|0.27	.|.	8.5696|8.5696	0.33561|0.33561	0.0:0.3318:0.0:0.6682|0.0:0.3318:0.0:0.6682	.|.	.|803;803	.|E9KL49;P52824	.|.;DGKQ_HUMAN	S|Q	737|803	.|ENSP00000273814:R803Q	.|ENSP00000273814:R803Q	G|R	-|-	1|2	0|0	0|0	DGKQ|DGKQ	945530|945530	945530|945530	0.005000|0.005000	0.15991|0.15991	0.994000|0.994000	0.49952|0.49952	0.584000|0.584000	0.36387|0.36387	-0.014000|-0.014000	0.12656|0.12656	-0.223000|-0.223000	0.09943|0.09943	-0.471000|-0.471000	0.05019|0.05019	GGC|CGG		0.647	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000200888.1		25.765232	-5	-5	54	54			9	26.558207	26.558207	19	0.321429	0	0	0	1	0	9	19	0.321429
XKR4	114786	broad.mit.edu	37	8	56436530	56436530	+	Missense_Mutation	SNP	G	G	A	rs377335343		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr8:56436530G>A	ENST00000327381.6	+	3	1797	c.1697G>A	c.(1696-1698)cGg>cAg	p.R566Q	RP11-628E19.2_ENST00000522918.1_RNA	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	566						integral component of membrane (GO:0016021)		p.R566Q(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TTCGCAGAGCGGGATGGGTGT	0.552																																						ENST00000327381.6											1	Substitution - Missense(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(1696-1698)cGg>cAg	XK, Kell blood group complex subunit-related family, member 4	G	GLN/ARG	0,4406		0,0,2203	73.0	76.0	75.0		1697	5.9	1.0	8		75	1,8599	1.2+/-3.3	0,1,4299	no	missense	XKR4	NM_052898.1	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	566/651	56436530	1,13005	2203	4300	6503	SO:0001583	missense	114786				integral to membrane		g.chr8:56436530G>A	AY534241	AY534241	CCDS34893.1	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579	ENSG00000206579	ENSG00000206579				29394	29394	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""X Kell blood group precursor-related family, member 4"""		"""X Kell blood group precursor-related family, member 4"""					Standard	Standard	NM_052898	NM_052898		Approved	KIAA1889	uc003xsf.3	uc003xsf.3	Q5GH76	Q5GH76	OTTHUMG00000164288	OTTHUMG00000164288	ENST00000327381.6:c.1697G>A	8.37:g.56436530G>A	ENSP00000328326:p.Arg566Gln			p.R566Q	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		3	1797	+					Q96PZ8	Missense_Mutation	SNP	ENST00000327381.6	37	c.1697G>A	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.849069	0.71603	0.0	1.16E-4	ENSG00000206579	ENST00000327381;ENST00000543752	D	0.84070	-1.8	5.95	5.95	0.96441	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.89986	0.6874	L	0.59436	1.845	0.58432	D	0.999998	D	0.89917	1.0	D	0.79108	0.992	D	0.87919	0.2702	10	0.40728	T	0.16	-3.1323	20.3931	0.98965	0.0:0.0:1.0:0.0	.	566	Q5GH76	XKR4_HUMAN	Q	566	ENSP00000328326:R566Q	ENSP00000328326:R566Q	R	+	2	0	0	XKR4	56599084	56599084	1.000000	0.71417	0.998000	0.56505	0.133000	0.20885	9.869000	0.99810	2.824000	0.97209	0.655000	0.94253	CGG		0.552	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2		0.399209	-22	-22	51	51	NM_052898		3	7.011696	7.011696	34	0.081081	0	0	0	1	0	3	34	0.081081
SLC13A1	6561	broad.mit.edu	37	7	122787322	122787322	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:122787322C>T	ENST00000194130.2	-	7	742	c.703G>A	c.(703-705)Gtg>Atg	p.V235M	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	235					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	TTACGTGTCACGTGGCCCTTC	0.418																																						ENST00000194130.2											0			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45						c.(703-705)Gtg>Atg	solute carrier family 13 (sodium/sulfate symporter), member 1						234.0	179.0	197.0					7																	122787322		2203	4300	6503	SO:0001583	missense	6561				integral to membrane|plasma membrane	sodium:sulfate symporter activity	g.chr7:122787322C>T			CCDS5786.1	CCDS5786.1	7q31.32	2013-07-18	2013-07-18		2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800	ENSG00000081800	ENSG00000081800		"""Solute carriers"""	"""Solute carriers"""	10916	10916	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606193	606193	"""solute carrier family 13 (sodium/sulphate symporters), member 1"""		"""solute carrier family 13 (sodium/sulphate symporters), member 1"""			11161786	11161786	Standard	Standard	NM_022444	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	uc003vkm.3	Q9BZW2	Q9BZW2	OTTHUMG00000157087	OTTHUMG00000157087	ENST00000194130.2:c.703G>A	7.37:g.122787322C>T	ENSP00000194130:p.Val235Met		SLC13A1_ENST00000539873.1_3'UTR	p.V235M	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN			7	742	-			235		Q9H5Z0	Missense_Mutation	SNP	ENST00000194130.2	37	c.703G>A	CCDS5786.1	.	.	.	.	.	.	.	.	.	.	C	0.150	-1.092159	0.01858	.	.	ENSG00000081800	ENST00000194130	T	0.03386	3.95	5.0	2.45	0.29901	5.0	2.45	0.29901	.	0.219788	0.52532	N	0.000078	T	0.00875	0.0029	N	0.00119	-2.075	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.51060	-0.8753	10	0.42905	T	0.14	-27.0989	6.0605	0.19835	0.0:0.0891:0.1627:0.7482	.	235;235	A4D0X1;Q9BZW2	.;S13A1_HUMAN	M	235	ENSP00000194130:V235M	ENSP00000194130:V235M	V	-	1	0	0	SLC13A1	122574558	122574558	1.000000	0.71417	1.000000	0.80357	0.564000	0.35744	3.182000	0.50910	0.755000	0.32990	-0.414000	0.06135	GTG		0.418	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1		18.744524	-2	-2	64	64	NM_022444		9	23.774717	23.774717	42	0.176471	0	0	0	1	0	9	42	0.176471
SLC4A2	6522	broad.mit.edu	37	7	150768837	150768837	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:150768837C>T	ENST00000485713.1	+	15	3293	c.2253C>T	c.(2251-2253)ggC>ggT	p.G751G	SLC4A2_ENST00000392826.2_Silent_p.G742G|RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000413384.2_Silent_p.G751G|SLC4A2_ENST00000461735.1_Silent_p.G737G|SLC4A2_ENST00000310317.5_Silent_p.G669G	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	751	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGCTCCAGGGCGTGGTCTTCT	0.622																																						ENST00000485713.1											0			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(2251-2253)ggC>ggT	solute carrier family 4 (anion exchanger), member 2						82.0	88.0	86.0					7																	150768837		2203	4300	6503	SO:0001819	synonymous_variant	6522			bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	g.chr7:150768837C>T			CCDS5917.1, CCDS56520.1, CCDS56521.1	CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889	ENSG00000164889	ENSG00000164889		"""Solute carriers"""	"""Solute carriers"""	11028	11028	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	8434259	Standard	Standard	NM_003040	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	uc003wit.4	P04920	P04920	OTTHUMG00000158443	OTTHUMG00000158443	ENST00000485713.1:c.2253C>T	7.37:g.150768837C>T			SLC4A2_ENST00000461735.1_Silent_p.G737G|SLC4A2_ENST00000310317.5_Silent_p.G669G|SLC4A2_ENST00000413384.2_Silent_p.G751G|SLC4A2_ENST00000392826.2_Silent_p.G742G	p.G751G	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	15	3293	+			751	Membrane (anion exchange).	B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Silent	SNP	ENST00000485713.1	37	c.2253C>T	CCDS5917.1																																																																																									0.622	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1		27.471236	-4	-4	92	92	NM_003040		12	31.30458	31.304580	42	0.222222	0	0	0	1	0	12	42	0.222222
TTC8	123016	broad.mit.edu	37	14	89337996	89337996	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr14:89337996C>T	ENST00000345383.5	+	11	1207	c.1123C>T	c.(1123-1125)Cgt>Tgt	p.R375C	TTC8_ENST00000358622.5_Missense_Mutation_p.R187C|TTC8_ENST00000380656.2_Missense_Mutation_p.R385C|TTC8_ENST00000354441.6_Missense_Mutation_p.R120C|TTC8_ENST00000536576.1_Missense_Mutation_p.R146C|TTC8_ENST00000346301.4_Missense_Mutation_p.R345C|TTC8_ENST00000338104.6_Missense_Mutation_p.R401C	NM_198309.2	NP_938051.1	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	411					axon guidance (GO:0007411)|camera-type eye photoreceptor cell differentiation (GO:0060219)|cilium assembly (GO:0042384)|establishment of anatomical structure orientation (GO:0048560)|fat cell differentiation (GO:0045444)|multicellular organism growth (GO:0035264)|nonmotile primary cilium assembly (GO:0035058)|olfactory bulb development (GO:0021772)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|renal tubule development (GO:0061326)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)	BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						CTCATTTGAACGTGCCCTTTC	0.443																																						ENST00000338104.6											0			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						c.(1201-1203)Cgt>Tgt	tetratricopeptide repeat domain 8						142.0	130.0	134.0					14																	89337996		2203	4300	6503	SO:0001583	missense	123016			cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding	g.chr14:89337996C>T	AK093891	AK093891	CCDS9885.1, CCDS9886.1, CCDS32137.1, CCDS73674.1, CCDS73675.1	CCDS9885.1, CCDS9886.1, CCDS32137.1, CCDS73674.1, CCDS73675.1	14q31.3	2013-02-14			2013-02-14				ENSG00000165533		ENSG00000165533		"""Tetratricopeptide (TTC) repeat domain containing"""	"""Tetratricopeptide (TTC) repeat domain containing"""	20087	20087	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608132	608132						14520415, 20451172	14520415, 20451172	Standard	Standard	NM_144596	NM_144596		Approved	BBS8, RP51	uc001xxi.3	uc001xxi.3	Q8TAM2	Q8TAM2			ENST00000345383.5:c.1123C>T	14.37:g.89337996C>T	ENSP00000339486:p.Arg375Cys		TTC8_ENST00000380656.2_Missense_Mutation_p.R385C|TTC8_ENST00000354441.6_Missense_Mutation_p.R120C|TTC8_ENST00000536576.1_Missense_Mutation_p.R146C|TTC8_ENST00000345383.5_Missense_Mutation_p.R375C|TTC8_ENST00000346301.4_Missense_Mutation_p.R345C|TTC8_ENST00000358622.5_Missense_Mutation_p.R187C	p.R401C			Q8TAM2	TTC8_HUMAN			12	1253	+			411		A6NFG2|B3KWA5|Q67B97|Q86SY0|Q86TV9|Q86U26|Q8NDH9|Q96DG8	Missense_Mutation	SNP	ENST00000345383.5	37	c.1201C>T	CCDS9885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.0|24.0	4.486612|4.486612	0.84854|0.84854	.|.	.|.	ENSG00000165533|ENSG00000165533	ENST00000345383;ENST00000536576;ENST00000346301;ENST00000338104;ENST00000354441;ENST00000380656;ENST00000358622|ENST00000557580	T;T;T;T;T;T;T|.	0.68025|.	-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3|.	5.73|5.73	5.73|5.73	0.89815|0.89815	5.73|5.73	5.73|5.73	0.89815|0.89815	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86493|0.86493	0.5946|0.5946	M|M	0.91140|0.91140	3.18|3.18	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.91635|.	0.996;0.999;0.998;0.988;0.988|.	D|D	0.88431|0.88431	0.3035|0.3035	10|5	0.87932|.	D|.	0|.	-12.0124|-12.0124	19.8984|19.8984	0.96975|0.96975	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	120;146;411;355;385|.	Q8TAM2-2;B3KSL8;Q8TAM2;Q8TAM2-3;Q8TAM2-4|.	.;.;TTC8_HUMAN;.;.|.	C|M	375;146;345;401;120;385;187|173	ENSP00000339486:R375C;ENSP00000445067:R146C;ENSP00000298324:R345C;ENSP00000337653:R401C;ENSP00000346427:R120C;ENSP00000370031:R385C;ENSP00000351439:R187C|.	ENSP00000337653:R401C|.	R|T	+|+	1|2	0|0	0|0	TTC8|TTC8	88407749|88407749	88407749|88407749	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.560000|3.560000	0.53763|0.53763	2.712000|2.712000	0.92718|0.92718	0.555000|0.555000	0.69702|0.69702	CGT|ACG		0.443	TTC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410861.1		109.483363	0	0	114	114	NM_144596		36	110.118802	110.118802	52	0.409091	0	0	0	1	0	36	52	0.409091
SLC6A5	9152	broad.mit.edu	37	11	20676288	20676288	+	Silent	SNP	G	G	A	rs373204248	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:20676288G>A	ENST00000525748.1	+	16	2541	c.2268G>A	c.(2266-2268)ccG>ccA	p.P756P	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	756					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CGCCACAGCCGGACTGGGGCC	0.562													G|||	2	0.000399361	0.0008	0.0	5008	,	,		18999	0.001		0.0	False		,,,				2504	0.0					ENST00000525748.1											0			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63						c.(2266-2268)ccG>ccA	solute carrier family 6 (neurotransmitter transporter), member 5	G		1,4405	2.1+/-5.4	0,1,2202	114.0	111.0	112.0		2268	-6.0	1.0	11		112	0,8600		0,0,4300	no	coding-synonymous	SLC6A5	NM_004211.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		756/798	20676288	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9152			synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20676288G>A	AF085412	AF085412	CCDS7854.1	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970	ENSG00000165970	ENSG00000165970		"""Solute carriers"""	"""Solute carriers"""	11051	11051	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""glycine transporter 2"""	"""glycine transporter 2"""	604159	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	9845349	Standard	Standard	NM_004211	NM_004211		Approved	GLYT2	uc001mqd.3	uc001mqd.3	Q9Y345	Q9Y345	OTTHUMG00000166024	OTTHUMG00000166024	ENST00000525748.1:c.2268G>A	11.37:g.20676288G>A			SLC6A5_ENST00000528440.1_3'UTR	p.P756P	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN			16	2541	+			756		O95288|Q4VAM7|Q9BX77	Silent	SNP	ENST00000525748.1	37	c.2268G>A	CCDS7854.1																																																																																									0.562	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2		76.096332	3	3	71	71	NM_004211		24	76.16314	76.163140	28	0.461538	0	0	0	1	0	24	28	0.461538
GRHL2	79977	broad.mit.edu	37	8	102570889	102570889	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr8:102570889G>A	ENST00000251808.3	+	4	865	c.527G>A	c.(526-528)cGg>cAg	p.R176Q	GRHL2_ENST00000395927.1_Missense_Mutation_p.R160Q	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	176					brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			CACTATCCCCGGGGAGATGGG	0.567																																						ENST00000251808.3											0			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(526-528)cGg>cAg	grainyhead-like 2 (Drosophila)						80.0	73.0	75.0					8																	102570889		2203	4300	6503	SO:0001583	missense	79977				cytoplasm|nucleus	DNA binding	g.chr8:102570889G>A	AK023844	AK023844	CCDS34931.1	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307	ENSG00000083307	ENSG00000083307				2799	2799	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608576	608576	"""deafness, autosomal dominant 28"", ""transcription factor CP2-like 3"""	DFNA28, TFCP2L3	"""deafness, autosomal dominant 28"", ""transcription factor CP2-like 3"""	DFNA28, TFCP2L3		12393799	12393799	Standard	Standard	NM_024915	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	uc010mbu.3	Q6ISB3	Q6ISB3	OTTHUMG00000149915	OTTHUMG00000149915	ENST00000251808.3:c.527G>A	8.37:g.102570889G>A	ENSP00000251808:p.Arg176Gln		GRHL2_ENST00000395927.1_Missense_Mutation_p.R160Q	p.R176Q	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)		4	865	+	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		176		A1L303|Q6NT03|Q9H8B8	Missense_Mutation	SNP	ENST00000251808.3	37	c.527G>A	CCDS34931.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.026629	0.35797	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	T;T	0.11169	2.8;2.8	5.33	4.45	0.53987	5.33	4.45	0.53987	.	0.317710	0.40469	N	0.001100	T	0.21227	0.0511	L	0.41236	1.265	0.47245	D	0.999365	D;P	0.76494	0.999;0.454	D;B	0.72625	0.978;0.029	T	0.03413	-1.1039	10	0.16420	T	0.52	-7.6427	13.8279	0.63361	0.0742:0.0:0.9258:0.0	.	176;176	B4DL28;Q6ISB3	.;GRHL2_HUMAN	Q	176;160;176	ENSP00000251808:R176Q;ENSP00000379260:R160Q	ENSP00000251808:R176Q	R	+	2	0	0	GRHL2	102640065	102640065	1.000000	0.71417	0.509000	0.27700	0.377000	0.30045	8.500000	0.90498	1.227000	0.43598	0.637000	0.83480	CGG		0.567	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1		35.555583	-5	-5	81	81	NM_024915		13	37.666476	37.666476	34	0.276596	0	0	0	1	0	13	34	0.276596
FOXO3	2309	broad.mit.edu	37	6	108985561	108985561	+	Missense_Mutation	SNP	G	G	A	rs535867091	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:108985561G>A	ENST00000343882.6	+	3	1829	c.1525G>A	c.(1525-1527)Gtg>Atg	p.V509M	FOXO3_ENST00000406360.1_Missense_Mutation_p.V509M|FOXO3_ENST00000540898.1_Missense_Mutation_p.V289M	NM_201559.2	NP_963853.1	O43524	FOXO3_HUMAN	forkhead box O3	509					antral ovarian follicle growth (GO:0001547)|cellular response to oxidative stress (GO:0034599)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|initiation of primordial ovarian follicle growth (GO:0001544)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|ovulation from ovarian follicle (GO:0001542)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V509L(1)		central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		CCGCCGGAACGTGATGCTTCG	0.557													G|||	8	0.00159744	0.0061	0.0	5008	,	,		22124	0.0		0.0	False		,,,				2504	0.0					ENST00000406360.1											1	Substitution - Missense(1)	endometrium(1)	central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26						c.(1525-1527)Gtg>Atg	forkhead box O3						19.0	21.0	20.0					6																	108985561		2113	4099	6212	SO:0001583	missense	2309			antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr6:108985561G>A	AF032886	AF032886	CCDS5068.1	CCDS5068.1	6q21	2008-09-08	2007-05-02	2007-05-02	2008-09-08	2007-05-02	2007-05-02	ENSG00000118689	ENSG00000118689	ENSG00000118689	ENSG00000118689		"""Forkhead boxes"""	"""Forkhead boxes"""	3821	3821	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602681	602681		FKHRL1, FOXO3A		FKHRL1, FOXO3A		9479491	9479491	Standard	Standard	NM_001455	NM_001455		Approved	AF6q21, FOXO2	uc003psm.2	uc003psm.2	O43524	O43524	OTTHUMG00000015327	OTTHUMG00000015327	ENST00000343882.6:c.1525G>A	6.37:g.108985561G>A	ENSP00000339527:p.Val509Met		FOXO3_ENST00000343882.6_Missense_Mutation_p.V509M|FOXO3_ENST00000540898.1_Missense_Mutation_p.V289M	p.V509M	NM_001455.3	NP_001446.1	O43524	FOXO3_HUMAN		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)	2	1868	+		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)	509		B4DVZ6|E1P5E6|O15171|Q5T2I7|Q9BZ04	Missense_Mutation	SNP	ENST00000343882.6	37	c.1525G>A	CCDS5068.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.242929	0.22796	.	.	ENSG00000118689	ENST00000343882;ENST00000406360;ENST00000540258;ENST00000540898	D;D;D	0.96522	-4.04;-4.04;-4.04	5.59	5.59	0.84812	5.59	5.59	0.84812	.	0.321110	0.33916	N	0.004438	D	0.89462	0.6722	L	0.55990	1.75	0.37317	D	0.909373	P	0.50443	0.935	B	0.36534	0.227	D	0.87932	0.2711	10	0.32370	T	0.25	-12.8009	7.3004	0.26418	0.2012:0.0:0.7988:0.0	.	509	O43524	FOXO3_HUMAN	M	509;509;289;289	ENSP00000339527:V509M;ENSP00000385824:V509M;ENSP00000446316:V289M	ENSP00000339527:V509M	V	+	1	0	0	FOXO3	109092254	109092254	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.710000	0.54860	2.648000	0.89879	0.563000	0.77884	GTG		0.557	FOXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041722.2		24.667124	-6	-6	24	24			9	24.996929	24.996929	15	0.375000	0	0	0	1	0	9	15	0.375
CACFD1	11094	broad.mit.edu	37	9	136328663	136328663	+	Silent	SNP	C	C	T	rs113031528	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:136328663C>T	ENST00000316948.4	+	2	260	c.180C>T	c.(178-180)gcC>gcT	p.A60A	CACFD1_ENST00000542192.1_Silent_p.A60A|CACFD1_ENST00000489519.1_3'UTR|CACFD1_ENST00000291722.7_Silent_p.A60A|CACFD1_ENST00000540581.1_Silent_p.A60A	NM_017586.3	NP_060056.1	Q9UGQ2	FLOWR_HUMAN	calcium channel flower domain containing 1	60					synaptic vesicle endocytosis (GO:0048488)	integral component of synaptic vesicle membrane (GO:0030285)	calcium channel activity (GO:0005262)										ACATTGCGGCCGGCGTGTGGA	0.622													C|||	2	0.000399361	0.0	0.0	5008	,	,		19339	0.002		0.0	False		,,,				2504	0.0					ENST00000316948.4											0										c.(178-180)gcC>gcT	calcium channel flower domain containing 1	C	,,,	1,4405	2.1+/-5.4	0,1,2202	136.0	124.0	128.0		180,180,180,180	-9.6	0.5	9	dbSNP_132	128	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	C9orf7	NM_001135775.2,NM_001242369.1,NM_001242370.1,NM_017586.3	,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,	60/131,60/234,60/192,60/173	136328663	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	11094				integral to membrane		g.chr9:136328663C>T			CCDS6974.1, CCDS48051.1, CCDS56591.1, CCDS56592.1	CCDS6974.1, CCDS48051.1, CCDS56591.1, CCDS56592.1	9q34	2012-03-06	2012-03-06	2012-03-06	2012-03-06	2012-03-06	2012-03-06	ENSG00000160325	ENSG00000160325	ENSG00000160325	ENSG00000160325				1365	1365	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613104	613104	"""chromosome 9 open reading frame 7"""	C9orf7	"""chromosome 9 open reading frame 7"""	C9orf7		19737521	19737521	Standard	Standard	NM_001242370	NM_001242370		Approved	D9S2135, flower	uc011mdh.1	uc011mdh.1	Q9UGQ2	Q9UGQ2	OTTHUMG00000020875	OTTHUMG00000020875	ENST00000316948.4:c.180C>T	9.37:g.136328663C>T			CACFD1_ENST00000291722.7_Silent_p.A60A|CACFD1_ENST00000540581.1_Silent_p.A60A|CACFD1_ENST00000489519.1_3'UTR|CACFD1_ENST00000542192.1_Silent_p.A60A	p.A60A	NM_017586.3	NP_060056.1	Q9UGQ2	FLOWR_HUMAN			2	260	+			60		B7Z3T8|B7Z5E1|F5GXX4|Q5SXD4|Q8NBM6	Silent	SNP	ENST00000316948.4	37	c.180C>T	CCDS6974.1																																																																																									0.622	CACFD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054915.1		35.356487	-23	-23	110	110	NM_017586		16	41.252076	41.252076	60	0.210526	0	0	0	1	0	16	60	0.210526
CLCA1	1179	broad.mit.edu	37	1	86959980	86959980	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:86959980G>A	ENST00000234701.3	+	12	2142	c.1791G>A	c.(1789-1791)acG>acA	p.T597T	CLCA1_ENST00000394711.1_Silent_p.T597T			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	597					calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		CTTCCAAAACGAACAAGGACA	0.517																																						ENST00000234701.3											0			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1789-1791)acG>acA	chloride channel accessory 1						101.0	88.0	92.0					1																	86959980		2203	4300	6503	SO:0001819	synonymous_variant	1179			calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	g.chr1:86959980G>A			CCDS709.1	CCDS709.1	1p22.3	2012-02-26	2009-01-29		2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490	ENSG00000016490	ENSG00000016490				2015	2015	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603906	603906	"""chloride channel, calcium activated, family member 1"", ""chloride channel regulator 1"""		"""chloride channel, calcium activated, family member 1"", ""chloride channel regulator 1"""			9828122	9828122	Standard	Standard	NM_001285	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	uc001dlt.3	A8K7I4	A8K7I4	OTTHUMG00000010254	OTTHUMG00000010254	ENST00000234701.3:c.1791G>A	1.37:g.86959980G>A			CLCA1_ENST00000394711.1_Silent_p.T597T	p.T597T			A8K7I4	CLCA1_HUMAN		all cancers(265;0.0249)|Epithelial(280;0.0476)	12	2142	+		Lung NSC(277;0.239)	597		B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Silent	SNP	ENST00000234701.3	37	c.1791G>A	CCDS709.1																																																																																									0.517	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1		56.346517	-1	-1	44	44	NM_001285		18	56.396704	56.396704	21	0.461538	0	0	0	1	0	18	21	0.461538
NEU2	4759	broad.mit.edu	37	2	233897559	233897559	+	Missense_Mutation	SNP	G	G	A	rs370749556	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:233897559G>A	ENST00000233840.3	+	1	178	c.178G>A	c.(178-180)Gac>Aac	p.D60N		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	60					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	Oseltamivir(DB00198)|Zanamivir(DB00558)	AGGAGACTACGACGCACCCAC	0.637													G|||	3	0.000599042	0.0	0.0043	5008	,	,		20144	0.0		0.0	False		,,,				2504	0.0					ENST00000233840.3											0			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18						c.(178-180)Gac>Aac	sialidase 2 (cytosolic sialidase)	G	ASN/ASP	0,4406		0,0,2203	37.0	33.0	34.0		178	-1.3	0.0	2		34	1,8599		0,1,4299	no	missense	NEU2	NM_005383.2	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	60/381	233897559	1,13005	2203	4300	6503	SO:0001583	missense	4759					exo-alpha-sialidase activity	g.chr2:233897559G>A	Y16535	Y16535	CCDS2501.1	CCDS2501.1	2q37	2008-05-27			2008-05-27			ENSG00000115488	ENSG00000115488	ENSG00000115488	ENSG00000115488				7759	7759	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""N-acetyl-alpha-neuraminidase 2"""	"""N-acetyl-alpha-neuraminidase 2"""	605528	605528						10191093, 14613940	10191093, 14613940	Standard	Standard	NM_005383	NM_005383		Approved	SIAL2	uc010zmn.2	uc010zmn.2	Q9Y3R4	Q9Y3R4	OTTHUMG00000133274	OTTHUMG00000133274	ENST00000233840.3:c.178G>A	2.37:g.233897559G>A	ENSP00000233840:p.Asp60Asn			p.D60N	NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	1	178	+		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)	60		Q3KNW4|Q6NTB4	Missense_Mutation	SNP	ENST00000233840.3	37	c.178G>A	CCDS2501.1	.	.	.	.	.	.	.	.	.	.	G	6.367	0.435859	0.12104	0.0	1.16E-4	ENSG00000115488	ENST00000233840	D	0.83755	-1.76	5.54	-1.31	0.09230	5.54	-1.31	0.09230	Neuraminidase (2);	0.804728	0.10850	N	0.627229	T	0.61887	0.2383	N	0.04768	-0.165	0.09310	N	1	B	0.16166	0.016	B	0.06405	0.002	T	0.45026	-0.9289	10	0.14252	T	0.57	-8.1065	10.9659	0.47412	0.5948:0.0:0.4052:0.0	.	60	Q9Y3R4	NEUR2_HUMAN	N	60	ENSP00000233840:D60N	ENSP00000233840:D60N	D	+	1	0	0	NEU2	233605803	233605803	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.450000	0.06803	-0.059000	0.13154	0.591000	0.81541	GAC		0.637	NEU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257053.2		8.222010	-5	-5	9	9	NM_005383		3	8.443411	8.443411	6	0.333333	0	0	0	1	0	3	6	0.333333
TCEB3CL	728929	broad.mit.edu	37	18	44549170	44549170	+	Missense_Mutation	SNP	G	G	A	rs199619018		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr18:44549170G>A	ENST00000451265.1	-	1	1364	c.1129C>T	c.(1129-1131)Cgc>Tgc	p.R377C	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_001100817.1	NP_001094287.1	Q3SY89	EA3L1_HUMAN	transcription elongation factor B polypeptide 3C-like	377	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|lung(1)|prostate(1)	3						TTCTCTGTGCGGTACGGCTGA	0.572																																						ENST00000451265.1											0			central_nervous_system(1)|lung(1)|prostate(1)	3						c.(1129-1131)Cgc>Tgc	transcription elongation factor B polypeptide 3C-like						228.0	194.0	205.0					18																	44549170		1710	3416	5126	SO:0001583	missense	728929						g.chr18:44549170G>A					18q21.1	2007-07-10			2007-07-10				ENSG00000275553		ENSG00000275553				31007	31007	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001100817	NM_001100817		Approved	HsT828			Q3SY89	Q3SY89			ENST00000451265.1:c.1129C>T	18.37:g.44549170G>A	ENSP00000409932:p.Arg377Cys		KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	p.R377C	NM_001100817.1	NP_001094287.1					1	1364	-					Q3MI93	Missense_Mutation	SNP	ENST00000451265.1	37	c.1129C>T	CCDS42433.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.184174	0.38609	.	.	ENSG00000234298	ENST00000451265	T	0.33654	1.4	1.5	0.527	0.17084	1.5	0.527	0.17084	.	0.813513	0.10476	N	0.670186	T	0.55625	0.1932	M	0.77486	2.375	0.27479	N	0.952621	D	0.89917	1.0	D	0.74674	0.984	T	0.43734	-0.9373	10	0.87932	D	0	-9.163	6.7137	0.23292	0.0:0.0:0.7186:0.2814	.	377	Q3SY89	EA3L1_HUMAN	C	377	ENSP00000409932:R377C	ENSP00000409932:R377C	R	-	1	0	0	TCEB3CL	42803168	42803168	1.000000	0.71417	0.000000	0.03702	0.002000	0.02628	0.919000	0.28692	0.177000	0.19895	0.556000	0.70494	CGC		0.572	TCEB3CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451071.1		12.035973	-2	-2	354	354	XM_001132059		18	43.600688	43.600688	173	0.094241	0	0	0	1	0	18	173	0.094241
LZTS3	9762	broad.mit.edu	37	20	3145195	3145195	+	Missense_Mutation	SNP	C	C	T	rs144495581		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr20:3145195C>T	ENST00000329152.3	-	3	3324	c.1927G>A	c.(1927-1929)Gca>Aca	p.A643T	LZTS3_ENST00000360342.3_Missense_Mutation_p.A597T|LZTS3_ENST00000337576.5_Missense_Mutation_p.A597T			O60299	LZTS3_HUMAN		643						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)											GCACCCCCTGCGGCCCCGCGC	0.647																																						ENST00000329152.3											0										c.(1927-1929)Gca>Aca							47.0	46.0	46.0					20																	3145195		2203	4299	6502	SO:0001583	missense	0						g.chr20:3145195C>T																																																	ENST00000329152.3:c.1927G>A	20.37:g.3145195C>T	ENSP00000332123:p.Ala643Thr		LZTS3_ENST00000337576.5_Missense_Mutation_p.A597T|LZTS3_ENST00000360342.3_Missense_Mutation_p.A597T	p.A643T							3	3324	-					A2A2Q7|D3DVX6|Q8IXX8	Missense_Mutation	SNP	ENST00000329152.3	37	c.1927G>A	CCDS13049.1	.	.	.	.	.	.	.	.	.	.	C	7.640	0.680649	0.14907	.	.	ENSG00000088899	ENST00000329152;ENST00000360342;ENST00000337576	T;T;T	0.30182	1.54;1.54;1.54	4.69	1.46	0.22682	4.69	1.46	0.22682	.	0.317648	0.31760	N	0.007114	T	0.10680	0.0261	N	0.08118	0	0.09310	N	1	P;P	0.46656	0.882;0.813	B;B	0.36030	0.216;0.081	T	0.23940	-1.0174	10	0.20519	T	0.43	-13.436	6.5022	0.22176	0.3173:0.5937:0.0:0.0891	.	597;643	O60299-2;O60299	.;PRIP1_HUMAN	T	643;597;597	ENSP00000332123:A643T;ENSP00000353496:A597T;ENSP00000338166:A597T	ENSP00000332123:A643T	A	-	1	0	0	RP5-1187M17.10	3093195	3093195	0.036000	0.19791	0.019000	0.16419	0.718000	0.41266	0.167000	0.16602	0.566000	0.29273	0.555000	0.69702	GCA		0.647	LZTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077715.2		68.851441	7	7	52	52			22	68.856542	68.856542	21	0.511628	0	0	0	1	0	22	21	0.511628
HRNR	388697	broad.mit.edu	37	1	152187596	152187596	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:152187596G>A	ENST00000368801.2	-	3	6584	c.6509C>T	c.(6508-6510)tCg>tTg	p.S2170L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2170					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCGTGGCCCGAAGACTGACG	0.627																																						ENST00000368801.2											0			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(6508-6510)tCg>tTg	hornerin						122.0	154.0	143.0					1																	152187596		2196	4279	6475	SO:0001583	missense	388697			keratinization		calcium ion binding|protein binding	g.chr1:152187596G>A	AB104446	AB104446	CCDS30859.1	CCDS30859.1	1q21.3	2013-01-10			2013-01-10			ENSG00000197915	ENSG00000197915	ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	"""EF-hand domain containing"""	20846	20846	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""filaggrin family member 3"""	"""filaggrin family member 3"""										Standard	Standard	NM_001009931	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	uc001ezt.2	Q86YZ3	Q86YZ3	OTTHUMG00000012243	OTTHUMG00000012243	ENST00000368801.2:c.6509C>T	1.37:g.152187596G>A	ENSP00000357791:p.Ser2170Leu		FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.S2170L	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6584	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2170		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.6509C>T	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	11.36	1.615170	0.28712	.	.	ENSG00000197915	ENST00000368801	T	0.05855	3.38	3.22	3.22	0.36961	3.22	3.22	0.36961	.	.	.	.	.	T	0.07548	0.0190	L	0.55481	1.735	0.09310	N	1	D	0.76494	0.999	P	0.56612	0.802	T	0.12837	-1.0532	9	0.48119	T	0.1	.	12.3341	0.55056	0.0:0.0:1.0:0.0	.	2170	Q86YZ3	HORN_HUMAN	L	2170	ENSP00000357791:S2170L	ENSP00000357791:S2170L	S	-	2	0	0	HRNR	150454220	150454220	0.050000	0.20438	0.005000	0.12908	0.031000	0.12232	1.313000	0.33585	1.810000	0.52873	0.650000	0.86243	TCG		0.627	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1		-161.497204	388	388	1091	1091	XM_373868		22	38.959947	38.959947	790	0.027094	0	0	0	1	0	22	790	0.027094
TNIP2	79155	broad.mit.edu	37	4	2746454	2746454	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr4:2746454C>T	ENST00000315423.7	-	4	962	c.876G>A	c.(874-876)gcG>gcA	p.A292A	TNIP2_ENST00000510267.1_Silent_p.A185A|TNIP2_ENST00000503235.1_Intron|TNIP2_ENST00000505186.1_5'UTR	NM_024309.3	NP_077285.3			TNFAIP3 interacting protein 2											breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCCGCTCCAACGCAGCATCCC	0.612																																						ENST00000510267.1											0			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14						c.(553-555)gcG>gcA	TNFAIP3 interacting protein 2						38.0	43.0	41.0					4																	2746454		2203	4300	6503	SO:0001819	synonymous_variant	79155				cytosol	protein binding	g.chr4:2746454C>T	BC002740	BC002740	CCDS3362.1, CCDS54714.1, CCDS75093.1	CCDS3362.1, CCDS54714.1, CCDS75093.1	4p16.3	2008-08-01			2008-08-01			ENSG00000168884	ENSG00000168884	ENSG00000168884	ENSG00000168884				19118	19118	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610669	610669						11390377, 12933576	11390377, 12933576	Standard	Standard	NM_024309	NM_024309		Approved	ABIN-2, MGC4289, KLIP, FLIP1	uc003gfg.2	uc003gfg.2	Q8NFZ5	Q8NFZ5	OTTHUMG00000090267	OTTHUMG00000090267	ENST00000315423.7:c.876G>A	4.37:g.2746454C>T			TNIP2_ENST00000503235.1_Intron|TNIP2_ENST00000315423.7_Silent_p.A292A|TNIP2_ENST00000505186.1_5'UTR	p.A185A	NM_001161527.1	NP_001154999.1	Q8NFZ5	TNIP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	4	982	-			292			Silent	SNP	ENST00000315423.7	37	c.555G>A	CCDS3362.1																																																																																									0.612	TNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206589.5		31.980153	-5	-5	75	75	NM_024309		12	34.192826	34.192826	33	0.266667	0	0	0	1	0	12	33	0.266667
CYTH3	9265	broad.mit.edu	37	7	6205175	6205175	+	Splice_Site	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:6205175C>T	ENST00000350796.3	-	11	1109		c.e11+1		CYTH3_ENST00000396741.2_Splice_Site|CYTH3_ENST00000488964.1_5'Flank	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3						establishment of epithelial cell polarity (GO:0090162)|Golgi vesicle transport (GO:0048193)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)	p.?(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						GAAGAGCTTACGGGTTTCCGG	0.622																																						ENST00000350796.3											1	Unknown(1)	endometrium(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						c.e11+1	cytohesin 3						80.0	81.0	81.0					7																	6205175		2203	4300	6503	SO:0001630	splice_region_variant	9265			regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr7:6205175C>T	AJ223957	AJ223957	CCDS5346.1	CCDS5346.1	7p22.1	2014-05-02	2008-08-14	2008-08-14	2014-05-02	2008-08-14	2008-08-14	ENSG00000008256	ENSG00000008256	ENSG00000008256	ENSG00000008256		"""Pleckstrin homology (PH) domain containing"""	"""Pleckstrin homology (PH) domain containing"""	9504	9504	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605081	605081	"""pleckstrin homology, Sec7 and coiled-coil domains 3"""	PSCD3	"""pleckstrin homology, Sec7 and coiled-coil domains 3"""	PSCD3		9072969	9072969	Standard	Standard	NM_004227	NM_004227		Approved	GRP1, ARNO3, cytohesin-3	uc003spt.3	uc003spt.3	O43739	O43739	OTTHUMG00000023440	OTTHUMG00000023440	ENST00000350796.3:c.972+1G>A	7.37:g.6205175C>T			CYTH3_ENST00000396741.2_Splice_Site		NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN			11	1109	-					A4D2N8	Splice_Site	SNP	ENST00000350796.3	37		CCDS5346.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.874511	0.91664	.	.	ENSG00000008256	ENST00000350796;ENST00000396741	.	.	.	5.18	5.18	0.71444	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2844	0.90110	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	CYTH3	6171700	6171700	1.000000	0.71417	0.846000	0.33378	0.952000	0.60782	7.725000	0.84808	2.407000	0.81776	0.561000	0.74099	.		0.622	CYTH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207396.2		82.348250	-8	-8	92	92	NM_004227	Intron	26	82.383658	82.383658	29	0.472727	0	0	0	1	0	26	29	0.472727
SLITRK3	22865	broad.mit.edu	37	3	164906265	164906265	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr3:164906265G>A	ENST00000475390.1	-	2	2797	c.2354C>T	c.(2353-2355)cCg>cTg	p.P785L	SLITRK3_ENST00000241274.3_Missense_Mutation_p.P785L			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	785					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.P785L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						ACCCATTCCCGGTGGTTGTGT	0.552										HNSCC(40;0.11)																												ENST00000475390.1											1	Substitution - Missense(1)	ovary(1)	NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						c.(2353-2355)cCg>cTg	SLIT and NTRK-like family, member 3						87.0	93.0	91.0					3																	164906265		2203	4300	6503	SO:0001583	missense	22865				integral to membrane		g.chr3:164906265G>A	AB020655	AB020655	CCDS3197.1	CCDS3197.1	3q26.1	2004-07-28			2004-07-28			ENSG00000121871	ENSG00000121871	ENSG00000121871	ENSG00000121871				23501	23501	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609679	609679						10048485, 14557068	10048485, 14557068	Standard	Standard	NM_014926	NM_014926		Approved	KIAA0848	uc003fek.3	uc003fek.3	O94933	O94933	OTTHUMG00000158072	OTTHUMG00000158072	ENST00000475390.1:c.2354C>T	3.37:g.164906265G>A	ENSP00000420091:p.Pro785Leu		SLITRK3_ENST00000241274.3_Missense_Mutation_p.P785L	p.P785L			O94933	SLIK3_HUMAN			2	2797	-			785		Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.2354C>T	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.275349	0.23307	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.54279	0.58;0.58	5.44	5.44	0.79542	5.44	5.44	0.79542	.	0.215496	0.23543	N	0.047051	T	0.29783	0.0744	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09552	-1.0669	10	0.21540	T	0.41	-0.9216	10.0662	0.42306	0.0882:0.0:0.9118:0.0	.	785	O94933	SLIK3_HUMAN	L	785	ENSP00000420091:P785L;ENSP00000241274:P785L	ENSP00000241274:P785L	P	-	2	0	0	SLITRK3	166388959	166388959	0.618000	0.27051	0.046000	0.18839	0.531000	0.34715	1.995000	0.40767	2.832000	0.97577	0.655000	0.94253	CCG		0.552	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1		49.594575	-15	-15	78	78	NM_014926		16	49.868453	49.868453	23	0.410256	0	0	0	1	0	16	23	0.410256
MED25	81857	broad.mit.edu	37	19	50334046	50334046	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:50334046G>A	ENST00000312865.6	+	9	1056	c.1003G>A	c.(1003-1005)Gcc>Acc	p.A335T	MED25_ENST00000538643.1_Missense_Mutation_p.A122T	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	335	Pro-rich.		A -> V (in CMT2B2; dbSNP:rs145770066). {ECO:0000269|PubMed:19290556}.		cell death (GO:0008219)|gene expression (GO:0010467)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of chromatin binding (GO:0035563)|positive regulation of mediator complex assembly (GO:2001178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|transcription factor binding (GO:0008134)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		ACCCCCTGGCGCCCCCAAGCC	0.706																																					GBM(51;894 1657 37868)	ENST00000312865.6											0			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17						c.(1003-1005)Gcc>Acc	mediator complex subunit 25						30.0	35.0	33.0					19																	50334046		2201	4297	6498	SO:0001583	missense	81857			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm		g.chr19:50334046G>A	AL136746	AL136746	CCDS33075.1	CCDS33075.1	19q13.3	2014-09-17	2007-07-30		2014-09-17	2007-07-30			ENSG00000104973		ENSG00000104973				28845	28845	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610197	610197	"""mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae)"""		"""mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae)"""			9110174, 11230166	9110174, 11230166	Standard	Standard	NM_030973	NM_030973		Approved	ARC92, ACID1, TCBAP0758, DKFZp434K0512	uc002ppw.2	uc002ppw.2	Q71SY5	Q71SY5			ENST00000312865.6:c.1003G>A	19.37:g.50334046G>A	ENSP00000326767:p.Ala335Thr		MED25_ENST00000538643.1_Missense_Mutation_p.A122T	p.A335T	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)	9	1056	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	335	Pro-rich.	A8K095|B9TX30|O95783|Q6P143|Q6QMH5|Q707U4|Q8TB55|Q9H0L5|Q9HB34	Missense_Mutation	SNP	ENST00000312865.6	37	c.1003G>A	CCDS33075.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.354663	0.82243	.	.	ENSG00000104973	ENST00000355584;ENST00000377077;ENST00000312881;ENST00000312865;ENST00000456294;ENST00000538643;ENST00000377070	T;T	0.78481	-1.18;-1.18	5.58	4.55	0.56014	5.58	4.55	0.56014	Mediator complex, subunit Med25, synapsin 1 (1);	0.391114	0.27486	N	0.019141	T	0.69700	0.3140	N	0.19112	0.55	0.30512	N	0.769333	D;D;P	0.62365	0.991;0.99;0.898	P;P;B	0.52386	0.608;0.697;0.338	T	0.66168	-0.5991	10	0.21540	T	0.41	.	9.7827	0.40658	0.0775:0.1409:0.7817:0.0	.	122;335;335	B9TX30;B5ME50;Q71SY5	.;.;MED25_HUMAN	T	335;335;335;335;335;122;70	ENSP00000326767:A335T;ENSP00000437496:A122T	ENSP00000326767:A335T	A	+	1	0	0	MED25	55025858	55025858	1.000000	0.71417	0.945000	0.38365	0.960000	0.62799	3.677000	0.54619	1.364000	0.46038	0.655000	0.94253	GCC		0.706	MED25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465316.1		13.243310	-10	-10	28	28	NM_030973		6	15.347964	15.347964	22	0.214286	0	0	0	1	0	6	22	0.214286
CUEDC1	404093	broad.mit.edu	37	17	55950132	55950132	+	Missense_Mutation	SNP	G	G	A	rs150759994		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:55950132G>A	ENST00000577830.1	-	5	1089	c.676C>T	c.(676-678)Cgc>Tgc	p.R226C	CUEDC1_ENST00000407144.2_Missense_Mutation_p.R226C|CUEDC1_ENST00000578357.1_5'Flank|CUEDC1_ENST00000577840.1_Missense_Mutation_p.R89C|CUEDC1_ENST00000360238.2_Missense_Mutation_p.R226C	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1	226										endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						TGCTTCCAGCGGCTCTCCTGG	0.637																																						ENST00000577830.1											0			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						c.(676-678)Cgc>Tgc	CUE domain containing 1	G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	80.0	73.0	75.0		676	4.4	1.0	17	dbSNP_134	75	1,8599	1.2+/-3.3	0,1,4299	no	missense	CUEDC1	NM_017949.1	180	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	226/387	55950132	2,13004	2203	4300	6503	SO:0001583	missense	404093						g.chr17:55950132G>A	AK000746	AK000746	CCDS11599.1	CCDS11599.1	17q23.2	2004-03-16			2004-03-16				ENSG00000180891		ENSG00000180891				31350	31350	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001271875	NM_001271875		Approved		uc002ive.2	uc002ive.2	Q9NWM3	Q9NWM3			ENST00000577830.1:c.676C>T	17.37:g.55950132G>A	ENSP00000462717:p.Arg226Cys		CUEDC1_ENST00000360238.2_Missense_Mutation_p.R226C|CUEDC1_ENST00000577840.1_Missense_Mutation_p.R89C|CUEDC1_ENST00000407144.2_Missense_Mutation_p.R226C	p.R226C	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN			5	1089	-			226		D3DTZ2|Q9NWD0	Missense_Mutation	SNP	ENST00000577830.1	37	c.676C>T	CCDS11599.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.507195	0.85282	2.27E-4	1.16E-4	ENSG00000180891	ENST00000407144;ENST00000360238	T;T	0.24908	1.83;1.83	5.46	4.43	0.53597	5.46	4.43	0.53597	.	0.102694	0.64402	D	0.000006	T	0.37265	0.0997	L	0.56769	1.78	0.54753	D	0.999983	D	0.71674	0.998	P	0.53146	0.719	T	0.18429	-1.0337	10	0.72032	D	0.01	-0.3714	13.1899	0.59704	0.0:0.0:0.7512:0.2488	.	226	Q9NWM3	CUED1_HUMAN	C	226	ENSP00000384712:R226C;ENSP00000353373:R226C	ENSP00000353373:R226C	R	-	1	0	0	CUEDC1	53305131	53305131	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.218000	0.65257	2.561000	0.86390	0.655000	0.94253	CGC		0.637	CUEDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443305.1		14.233331	0	0	82	82	NM_017949		9	22.445273	22.445273	56	0.138462	0	0	0	1	0	9	56	0.138462
PSMB11	122706	broad.mit.edu	37	14	23512169	23512169	+	Silent	SNP	C	C	T	rs186544245	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr14:23512169C>T	ENST00000408907.2	+	1	794	c.735C>T	c.(733-735)taC>taT	p.Y245Y		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	245					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		GTGTGCTGTACGTGGAGTTAC	0.597													C|||	7	0.00139776	0.0015	0.0	5008	,	,		17863	0.005		0.0	False		,,,				2504	0.0					ENST00000408907.2											0			endometrium(1)|kidney(2)|lung(4)	7						c.(733-735)taC>taT	proteasome (prosome, macropain) subunit, beta type, 11	C		4,4356		0,4,2176	38.0	42.0	40.0		735	3.2	0.5	14		40	0,8584		0,0,4292	no	coding-synonymous	PSMB11	NM_001099780.1		0,4,6468	TT,TC,CC		0.0,0.0917,0.0309		245/301	23512169	4,12940	2180	4292	6472	SO:0001819	synonymous_variant	122706			anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr14:23512169C>T			CCDS41923.1	CCDS41923.1	14q11.2	2008-01-31			2008-01-31				ENSG00000222028		ENSG00000222028				31963	31963	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611137	611137						17540904	17540904	Standard	Standard	NM_001099780	NM_001099780		Approved	beta5t	uc010ake.1	uc010ake.1	A5LHX3	A5LHX3			ENST00000408907.2:c.735C>T	14.37:g.23512169C>T				p.Y245Y	NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	1	794	+	all_cancers(95;3.3e-05)		245			Silent	SNP	ENST00000408907.2	37	c.735C>T	CCDS41923.1																																																																																									0.597	PSMB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408294.1		6.717185	-3	-3	28	28	NM_001099780		4	9.669009	9.669009	22	0.153846	0	0	0	1	0	4	22	0.153846
ZFHX3	463	broad.mit.edu	37	16	72993166	72993166	+	Silent	SNP	G	G	A	rs183134469		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:72993166G>A	ENST00000268489.5	-	2	1551	c.879C>T	c.(877-879)taC>taT	p.Y293Y	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	293					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ACGAACGGACGTACCCAAAGG	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		18624	0.001		0.0	False		,,,				2504	0.0					ENST00000268489.5											0			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(877-879)taC>taT	zinc finger homeobox 3						96.0	85.0	89.0					16																	72993166		2198	4300	6498	SO:0001819	synonymous_variant	463			muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72993166G>A	D10250	D10250	CCDS10908.1, CCDS54035.1	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	777	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			104155	104155	"""AT-binding transcription factor 1"""	ATBF1	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	1719379, 7592926	Standard	Standard	NM_006885	NM_006885		Approved	ZNF927	uc002fck.3	uc002fck.3	Q15911	Q15911	OTTHUMG00000137599	OTTHUMG00000137599	ENST00000268489.5:c.879C>T	16.37:g.72993166G>A			ZFHX3_ENST00000397992.5_Intron	p.Y293Y	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			2	1551	-		Ovarian(137;0.13)	293		D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.879C>T	CCDS10908.1																																																																																									0.493	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1		96.954730	4	4	87	87	NM_006885		30	97.053643	97.053643	25	0.545455	0	0	0	1	0	30	25	0.545455
TG	7038	broad.mit.edu	37	8	133920513	133920513	+	Silent	SNP	C	C	T	rs143023529		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr8:133920513C>T	ENST00000220616.4	+	18	3970	c.3930C>T	c.(3928-3930)taC>taT	p.Y1310Y	TG_ENST00000377869.1_Silent_p.Y1310Y	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1310					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GTGCTGACTACGCGGATTTGC	0.597																																						ENST00000220616.4											0			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(3928-3930)taC>taT	thyroglobulin	T		1,4405	2.1+/-5.4	0,1,2202	76.0	69.0	71.0		3930	2.7	0.1	8	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TG	NM_003235.4		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		1310/2769	133920513	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	7038			hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133920513C>T	AU141420	AU141420	CCDS34944.1	CCDS34944.1	8q24	2012-10-02			2012-10-02			ENSG00000042832	ENSG00000042832	ENSG00000042832	ENSG00000042832				11764	11764	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			188450	188450								Standard	Standard	NM_003235	NM_003235		Approved	TGN, AITD3	uc003ytw.3	uc003ytw.3	P01266	P01266	OTTHUMG00000164649	OTTHUMG00000164649	ENST00000220616.4:c.3930C>T	8.37:g.133920513C>T			TG_ENST00000377869.1_Silent_p.Y1310Y	p.Y1310Y	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	18	3970	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1310		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.3930C>T	CCDS34944.1																																																																																									0.597	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1		-2.613572	13	13	67	67	NM_003235		3	6.688579	6.688579	44	0.063830	0	0	0	1	0	3	44	0.06383
GPR4	2828	broad.mit.edu	37	19	46095082	46095082	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:46095082C>T	ENST00000323040.4	-	2	987	c.43G>A	c.(43-45)Gtg>Atg	p.V15M	OPA3_ENST00000544371.1_Intron|GPR4_ENST00000591614.1_5'Flank	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	15					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		AGGTGGTCCACGCGCGAGTCC	0.677																																					Esophageal Squamous(117;181 1612 1673 14956 42937)	ENST00000323040.4											0			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(43-45)Gtg>Atg	G protein-coupled receptor 4						49.0	39.0	43.0					19																	46095082		2203	4300	6503	SO:0001583	missense	2828				integral to plasma membrane	G-protein coupled receptor activity	g.chr19:46095082C>T	BC067536	BC067536	CCDS12669.1	CCDS12669.1	19q13.3	2012-08-21			2012-08-21				ENSG00000177464		ENSG00000177464		"""GPCR / Class A : Orphans"""	"""GPCR / Class A : Orphans"""	4497	4497	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600551	600551						8595909	8595909	Standard	Standard	NM_005282	NM_005282		Approved		uc002pcm.3	uc002pcm.3	P46093	P46093			ENST00000323040.4:c.43G>A	19.37:g.46095082C>T	ENSP00000319744:p.Val15Met		OPA3_ENST00000544371.1_Intron	p.V15M	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)	2	987	-			15		A8K3T3|B0M0K1|Q6NWM4	Missense_Mutation	SNP	ENST00000323040.4	37	c.43G>A	CCDS12669.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.397482	0.25205	.	.	ENSG00000177464	ENST00000323040	T	0.38077	1.16	5.11	2.98	0.34508	5.11	2.98	0.34508	.	0.096661	0.39834	N	0.001244	T	0.20536	0.0494	N	0.08118	0	0.26810	N	0.969017	D	0.65815	0.995	P	0.48627	0.584	T	0.03555	-1.1025	10	0.40728	T	0.16	.	4.8501	0.13533	0.0:0.6326:0.1776:0.1899	.	15	P46093	GPR4_HUMAN	M	15	ENSP00000319744:V15M	ENSP00000319744:V15M	V	-	1	0	0	GPR4	50786922	50786922	0.001000	0.12720	0.812000	0.32479	0.076000	0.17211	-0.111000	0.10807	1.141000	0.42275	0.313000	0.20887	GTG		0.677	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459603.1		11.362866	16	16	63	63	NM_005282		5	13.252805	13.252805	19	0.208333	0	0	0	1	0	5	19	0.208333
ASCC3	10973	broad.mit.edu	37	6	101075567	101075567	+	Missense_Mutation	SNP	C	C	T	rs142364575	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:101075567C>T	ENST00000369162.2	-	29	4885	c.4541G>A	c.(4540-4542)cGa>cAa	p.R1514Q		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1514					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TACTGATGGTCGGAAGTTAAA	0.368													C|||	2	0.000399361	0.0008	0.0	5008	,	,		17003	0.001		0.0	False		,,,				2504	0.0					ENST00000369162.2											0			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92						c.(4540-4542)cGa>cAa	activating signal cointegrator 1 complex subunit 3	C	GLN/ARG	3,4403	6.2+/-15.9	0,3,2200	84.0	79.0	81.0		4541	5.7	1.0	6	dbSNP_134	81	0,8600		0,0,4300	no	missense	ASCC3	NM_006828.2	43	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging	1514/2203	101075567	3,13003	2203	4300	6503	SO:0001583	missense	10973			regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101075567C>T	AJ223948	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249	ENSG00000112249	ENSG00000112249				18697	18697	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""RNA helicase family"""	"""RNA helicase family"""	614217	614217	"""helicase, ATP binding 1"""	HELIC1	"""helicase, ATP binding 1"""	HELIC1		10218103	10218103	Standard	Standard	NM_006828	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	uc003pqk.3	Q8N3C0	Q8N3C0	OTTHUMG00000015279	OTTHUMG00000015279	ENST00000369162.2:c.4541G>A	6.37:g.101075567C>T	ENSP00000358159:p.Arg1514Gln			p.R1514Q	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	29	4885	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	1514		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	c.4541G>A	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.983016	0.93044	6.81E-4	0.0	ENSG00000112249	ENST00000369162	D	0.91295	-2.82	5.7	5.7	0.88788	5.7	5.7	0.88788	DEAD-like helicase (1);	0.000000	0.85682	D	0.000000	D	0.93946	0.8062	M	0.76170	2.325	0.80722	D	1	D	0.76494	0.999	P	0.61874	0.895	D	0.92596	0.6087	10	0.42905	T	0.14	.	19.8206	0.96591	0.0:1.0:0.0:0.0	.	1514	Q8N3C0	HELC1_HUMAN	Q	1514	ENSP00000358159:R1514Q	ENSP00000358159:R1514Q	R	-	2	0	0	ASCC3	101182288	101182288	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.689000	0.91719	0.561000	0.74099	CGA		0.368	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2		22.791116	12	12	39	39	NM_006828		8	23.510818	23.510818	17	0.320000	0	0	0	1	0	8	17	0.32
AHI1	54806	broad.mit.edu	37	6	135778798	135778798	+	Nonsense_Mutation	SNP	G	G	A	rs201391050		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:135778798G>A	ENST00000367800.4	-	7	1201	c.985C>T	c.(985-987)Cga>Tga	p.R329*	AHI1_ENST00000457866.2_Nonsense_Mutation_p.R329*|AHI1_ENST00000327035.6_Nonsense_Mutation_p.R329*	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	329	Interaction with HAP1.				cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		GGGCTATCTCGGCTTGTTATT	0.358																																						ENST00000367800.4											0			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	GRCh37	CM080032	AHI1	M		c.(985-987)Cga>Tga	Abelson helper integration site 1						169.0	162.0	164.0					6																	135778798		1913	4114	6027	SO:0001587	stop_gained	54806				adherens junction|cilium|microtubule basal body		g.chr6:135778798G>A	AJ459824	AJ459824	CCDS47483.1, CCDS47484.1	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541	ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	"""WD repeat domain containing"""	21575	21575	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""Jouberin"""	"""Jouberin"""	608894	608894	"""Abelson helper integration site"""		"""Abelson helper integration site"""			15060101, 16240161	15060101, 16240161	Standard	Standard	NM_017651	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	uc003qgj.3	Q8N157	Q8N157	OTTHUMG00000015631	OTTHUMG00000015631	ENST00000367800.4:c.985C>T	6.37:g.135778798G>A	ENSP00000356774:p.Arg329*		AHI1_ENST00000327035.6_Nonsense_Mutation_p.R329*|AHI1_ENST00000457866.2_Nonsense_Mutation_p.R329*	p.R329*	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN		GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)	7	1201	-	Breast(56;0.239)|Colorectal(23;0.24)		329		E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Nonsense_Mutation	SNP	ENST00000367800.4	37	c.985C>T	CCDS47483.1	.	.	.	.	.	.	.	.	.	.	G	38	6.781126	0.97833	.	.	ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000265602;ENST00000327035;ENST00000367801	.	.	.	5.5	4.6	0.57074	5.5	4.6	0.57074	.	1.206670	0.05757	N	0.604317	.	.	.	.	.	.	0.39994	D	0.975072	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-0.1692	5.6965	0.17859	0.1194:0.0:0.6911:0.1894	.	.	.	.	X	329	.	ENSP00000265602:R329X	R	-	1	2	2	AHI1	135820491	135820491	0.883000	0.30277	0.897000	0.35233	0.430000	0.31655	1.508000	0.35769	2.586000	0.87340	0.460000	0.39030	CGA		0.358	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1		123.443582	14	14	91	91	NM_017651		38	123.609082	123.609082	46	0.452381	0	0	0	1	0	38	46	0.452381
HLCS	3141	broad.mit.edu	37	21	38137355	38137355	+	Silent	SNP	G	G	A	rs536830110		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr21:38137355G>A	ENST00000399120.1	-	9	2868	c.1638C>T	c.(1636-1638)tcC>tcT	p.S546S	HLCS_ENST00000336648.4_Silent_p.S546S	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	546	BPL/LPL catalytic. {ECO:0000255|PROSITE- ProRule:PRU01067}.				biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	CGACAGCCACGGACATCAGAT	0.532													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21068	0.0		0.0	False		,,,				2504	0.0					ENST00000399120.1											0			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24						c.(1636-1638)tcC>tcT	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)						151.0	123.0	132.0					21																	38137355		2203	4300	6503	SO:0001819	synonymous_variant	3141			cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding	g.chr21:38137355G>A			CCDS13647.1	CCDS13647.1	21q22.1	2012-07-13	2010-04-30		2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15			4976	4976	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609018	609018	"""holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)"", ""holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"""		"""holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)"", ""holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"""			7842009	7842009	Standard	Standard	NM_000411	NM_000411		Approved	HCS	uc021wjb.1	uc021wjb.1	P50747	P50747	OTTHUMG00000086636	OTTHUMG00000086636	ENST00000399120.1:c.1638C>T	21.37:g.38137355G>A			HLCS_ENST00000336648.4_Silent_p.S546S	p.S546S	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN			9	2868	-		Myeloproliferative disorder(46;0.0422)	546		B2RAH1|D3DSG6|Q99451	Silent	SNP	ENST00000399120.1	37	c.1638C>T	CCDS13647.1																																																																																									0.532	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2		51.895509	0	0	62	62			16	52.101765	52.101765	22	0.421053	0	0	0	1	0	16	22	0.421053
CFP	5199	broad.mit.edu	37	X	47485874	47485874	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:47485874G>A	ENST00000396992.3	-	7	1105	c.985C>T	c.(985-987)Cga>Tga	p.R329*	CFP_ENST00000480317.1_5'Flank|CFP_ENST00000247153.3_Nonsense_Mutation_p.R329*|CFP_ENST00000377005.2_Nonsense_Mutation_p.R329*	NM_001145252.1	NP_001138724.1	P27918	PROP_HUMAN	complement factor properdin	329	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						ATGTTCCGTCGGATACAGGGG	0.612																																						ENST00000247153.3											0			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						c.(985-987)Cga>Tga	complement factor properdin						51.0	41.0	45.0					X																	47485874		2203	4300	6503	SO:0001587	stop_gained	5199			complement activation, alternative pathway|defense response to bacterium	extracellular space		g.chrX:47485874G>A	M83652	M83652	CCDS14282.1	CCDS14282.1	Xp11.4	2014-09-17	2006-03-02	2006-03-02	2014-09-17	2006-03-02	2006-03-02	ENSG00000126759	ENSG00000126759	ENSG00000126759	ENSG00000126759		"""Complement system"""	"""Complement system"""	8864	8864	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300383	300383	"""properdin P factor, complement"""	PFC	"""properdin P factor, complement"""	PFC		1783405	1783405	Standard	Standard	NM_001145252	NM_001145252		Approved		uc004dih.3	uc004dih.3	P27918	P27918	OTTHUMG00000021451	OTTHUMG00000021451	ENST00000396992.3:c.985C>T	X.37:g.47485874G>A	ENSP00000380189:p.Arg329*		CFP_ENST00000396992.3_Nonsense_Mutation_p.R329*|CFP_ENST00000377005.2_Nonsense_Mutation_p.R329*	p.R329*	NM_002621.2	NP_002612.1	P27918	PROP_HUMAN			8	1226	-			329	TSP type-1 5.	O15134|O15135|O15136|O75826	Nonsense_Mutation	SNP	ENST00000396992.3	37	c.985C>T	CCDS14282.1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.914217	0.72983	.	.	ENSG00000126759	ENST00000396992;ENST00000247153;ENST00000377005	.	.	.	5.24	5.24	0.73138	5.24	5.24	0.73138	.	0.279906	0.35708	N	0.003022	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4259	0.61026	0.0:0.0:1.0:0.0	.	.	.	.	X	329	.	ENSP00000247153:R329X	R	-	1	2	2	CFP	47370818	47370818	0.962000	0.33011	0.230000	0.23976	0.015000	0.08874	3.938000	0.56583	2.324000	0.78689	0.468000	0.43344	CGA		0.612	CFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056435.2		21.981094	-16	-16	36	36	NM_002621		8	22.246494	22.246494	13	0.380952	0	0	0	1	0	8	13	0.380952
LYST	1130	broad.mit.edu	37	1	235827917	235827917	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:235827917G>A	ENST00000389794.3	-	51	11217	c.11043C>T	c.(11041-11043)ggC>ggT	p.G3681G	LYST_ENST00000389793.2_Silent_p.G3681G|LYST_ENST00000473037.1_5'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3681					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CACTGCCTCCGCCAGCTAAAA	0.567																																						ENST00000389794.3											0			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(11041-11043)ggC>ggT	lysosomal trafficking regulator						63.0	56.0	58.0					1																	235827917		2203	4300	6503	SO:0001819	synonymous_variant	1130			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235827917G>A	U70064	U70064	CCDS31062.1	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	"""WD repeat domain containing"""	1968	1968	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606897	606897	"""Chediak-Higashi syndrome 1"""	CHS1	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	8717042, 8896560	Standard	Standard	NM_000081	NM_000081		Approved	CHS	uc001hxj.3	uc001hxj.3	Q99698	Q99698	OTTHUMG00000040527	OTTHUMG00000040527	ENST00000389794.3:c.11043C>T	1.37:g.235827917G>A			LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Silent_p.G3681G	p.G3681G			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		51	11217	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	3681		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	ENST00000389794.3	37	c.11043C>T	CCDS31062.1																																																																																									0.567	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5		21.253993	-1	-1	49	49			9	23.845282	23.845282	30	0.230769	0	0	0	1	0	9	30	0.230769
ADRBK2	157	broad.mit.edu	37	22	26086189	26086189	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr22:26086189G>A	ENST00000324198.6	+	12	1183	c.991G>A	c.(991-993)Gca>Aca	p.A331T		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	331	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				receptor internalization (GO:0031623)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)		ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)	p.A331T(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	ACATGGACACGCAAGAATATC	0.413																																						ENST00000324198.6											1	Substitution - Missense(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32						c.(991-993)Gca>Aca	adrenergic, beta, receptor kinase 2						126.0	115.0	119.0					22																	26086189		2203	4300	6503	SO:0001583	missense	157					ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity	g.chr22:26086189G>A	X69117	X69117	CCDS13832.1	CCDS13832.1	22q11	2013-01-10			2013-01-10			ENSG00000100077	ENSG00000100077	ENSG00000100077	ENSG00000100077		"""Pleckstrin homology (PH) domain containing"""	"""Pleckstrin homology (PH) domain containing"""	290	290	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			109636	109636						7695743	7695743	Standard	Standard	NM_005160	NM_005160		Approved	GRK3, BARK2	uc003abx.4	uc003abx.4	P35626	P35626	OTTHUMG00000150280	OTTHUMG00000150280	ENST00000324198.6:c.991G>A	22.37:g.26086189G>A	ENSP00000317578:p.Ala331Thr			p.A331T	NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN			12	1183	+				Protein kinase.	Q9UGW9	Missense_Mutation	SNP	ENST00000324198.6	37	c.991G>A	CCDS13832.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.082989	0.36758	.	.	ENSG00000100077	ENST00000324198;ENST00000545323	T	0.26223	1.75	4.49	4.49	0.54785	4.49	4.49	0.54785	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.066369	0.64402	D	0.000012	T	0.26774	0.0655	L	0.42529	1.33	0.33464	D	0.585318	B;B	0.21381	0.012;0.055	B;B	0.26202	0.01;0.067	T	0.36163	-0.9759	10	0.56958	D	0.05	-17.4726	16.7419	0.85461	0.0:0.0:1.0:0.0	.	331;331	A8K869;P35626	.;ARBK2_HUMAN	T	331	ENSP00000317578:A331T	ENSP00000317578:A331T	A	+	1	0	0	ADRBK2	24416189	24416189	1.000000	0.71417	0.169000	0.22859	0.058000	0.15608	9.003000	0.93577	2.485000	0.83878	0.655000	0.94253	GCA		0.413	ADRBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317296.4		-1.106898	-22	-22	96	96	NM_005160		6	14.245079	14.245079	76	0.073171	0	0	0	1	0	6	76	0.073171
WNT2	7472	broad.mit.edu	37	7	116937892	116937892	+	Silent	SNP	G	G	A	rs138318436	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:116937892G>A	ENST00000265441.3	-	4	926	c.627C>T	c.(625-627)caC>caT	p.H209H		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	209					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CGCTCACCCCGTGGCACTTGC	0.547													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		19466	0.0		0.0	False		,,,				2504	0.0					ENST00000265441.3											0			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31						c.(625-627)caC>caT	wingless-type MMTV integration site family member 2	G		6,4400	11.4+/-27.6	0,6,2197	102.0	97.0	98.0		627	-7.1	0.4	7	dbSNP_134	98	0,8600		0,0,4300	no	coding-synonymous	WNT2	NM_003391.2		0,6,6497	AA,AG,GG		0.0,0.1362,0.0461		209/361	116937892	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	7472			atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	g.chr7:116937892G>A	X07876	X07876	CCDS5771.1	CCDS5771.1	7q31	2013-02-28			2013-02-28			ENSG00000105989	ENSG00000105989	ENSG00000105989	ENSG00000105989		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12780	12780	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""secreted growth factor"""	"""secreted growth factor"""	147870	147870		INT1L1		INT1L1		2971536	2971536	Standard	Standard	NM_003391	NM_003391		Approved	IRP	uc003viz.3	uc003viz.3	P09544	P09544	OTTHUMG00000023428	OTTHUMG00000023428	ENST00000265441.3:c.627C>T	7.37:g.116937892G>A				p.H209H	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	4	926	-	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		209		A4D0V1|Q75N05|Q9UDP9	Silent	SNP	ENST00000265441.3	37	c.627C>T	CCDS5771.1	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	G	12.35	1.913113	0.33815	0.001362	0.0	ENSG00000105989	ENST00000491214	T	0.64438	-0.1	5.58	-7.11	0.01542	5.58	-7.11	0.01542	.	.	.	.	.	T	0.71953	0.3401	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.79172	-0.1913	6	0.87932	D	0	.	17.7651	0.88475	0.7061:0.0:0.2939:0.0	.	.	.	.	W	117	ENSP00000419466:R117W	ENSP00000419466:R117W	R	-	1	2	2	WNT2	116725128	116725128	0.216000	0.23585	0.403000	0.26384	0.476000	0.33039	-0.256000	0.08757	-1.680000	0.01450	-1.134000	0.01955	CGG		0.547	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3		17.669577	-3	-3	131	131	NM_003391		11	28.076733	28.076733	70	0.135802	0	0	0	1	0	11	70	0.135802
NOTUM	147111	broad.mit.edu	37	17	79914795	79914795	+	Missense_Mutation	SNP	G	G	A	rs138384810	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr17:79914795G>A	ENST00000409678.3	-	7	1234	c.851C>T	c.(850-852)aCg>aTg	p.T284M		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	284						extracellular region (GO:0005576)	hydrolase activity (GO:0016787)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GGGCGCGCACGTGATCGTGTC	0.672													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18163	0.0		0.0	False		,,,				2504	0.0					ENST00000409678.3											0			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15						c.(850-852)aCg>aTg	notum pectinacetylesterase homolog (Drosophila)	G	MET/THR	0,4406		0,0,2203	86.0	64.0	71.0		851	3.6	0.3	17	dbSNP_134	71	2,8598	2.2+/-6.3	0,2,4298	yes	missense	NOTUM	NM_178493.5	81	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	284/497	79914795	2,13004	2203	4300	6503	SO:0001583	missense	147111				extracellular region	hydrolase activity	g.chr17:79914795G>A	BC060882	BC060882	CCDS32771.2	CCDS32771.2	17q25.3	2008-02-05			2008-02-05			ENSG00000185269	ENSG00000185269	ENSG00000185269	ENSG00000185269				27106	27106	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609847	609847								Standard	Standard	NM_178493	NM_178493		Approved		uc010wvg.2	uc010wvg.2	Q6P988	Q6P988	OTTHUMG00000154416	OTTHUMG00000154416	ENST00000409678.3:c.851C>T	17.37:g.79914795G>A	ENSP00000387310:p.Thr284Met			p.T284M	NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		7	1234	-	all_neural(118;0.0878)|Ovarian(332;0.12)		284		Q8N410|Q8NI82	Missense_Mutation	SNP	ENST00000409678.3	37	c.851C>T	CCDS32771.2	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	12.06	1.824093	0.32237	0.0	2.33E-4	ENSG00000185269	ENST00000409678;ENST00000425009	.	.	.	4.61	3.6	0.41247	4.61	3.6	0.41247	.	0.244696	0.47455	D	0.000230	T	0.56411	0.1983	L	0.53249	1.67	0.35967	D	0.835019	D	0.56521	0.976	P	0.51055	0.657	T	0.65249	-0.6214	9	0.41790	T	0.15	.	13.4264	0.61028	0.0:0.0:0.8362:0.1638	.	284	Q6P988	NOTUM_HUMAN	M	284	.	ENSP00000387310:T284M	T	-	2	0	0	NOTUM	77508085	77508085	1.000000	0.71417	0.300000	0.25030	0.029000	0.11900	3.657000	0.54474	0.841000	0.35020	0.491000	0.48974	ACG		0.672	NOTUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335123.2		3.308357	1	1	38	38	NM_178493		3	6.84938	6.849380	22	0.120000	0	0	0	1	0	3	22	0.12
GRIA1	2890	broad.mit.edu	37	5	153078528	153078528	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:153078528C>T	ENST00000285900.5	+	10	1690	c.1347C>T	c.(1345-1347)caC>caT	p.H449H	GRIA1_ENST00000521843.2_Silent_p.H380H|GRIA1_ENST00000448073.4_Silent_p.H459H|GRIA1_ENST00000340592.5_Silent_p.H449H|GRIA1_ENST00000518783.1_Silent_p.H459H|GRIA1_ENST00000518142.1_Silent_p.H369H	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	449					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	TTGCCAAGCACGTGGGCTACT	0.537																																						ENST00000285900.5											0			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(1345-1347)caC>caT	glutamate receptor, ionotropic, AMPA 1						110.0	98.0	102.0					5																	153078528		2203	4300	6503	SO:0001819	synonymous_variant	0			synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153078528C>T			CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			2012-08-29			ENSG00000155511	ENSG00000155511	ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	4571	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			138248	138248		GLUR1		GLUR1		1652753, 1319477	1652753, 1319477	Standard	Standard	NM_000827	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	uc011dcy.2	P42261	P42261	OTTHUMG00000130148	OTTHUMG00000130148	ENST00000285900.5:c.1347C>T	5.37:g.153078528C>T			GRIA1_ENST00000340592.5_Silent_p.H449H|GRIA1_ENST00000448073.4_Silent_p.H459H|GRIA1_ENST00000518783.1_Silent_p.H459H|GRIA1_ENST00000521843.2_Silent_p.H380H|GRIA1_ENST00000518142.1_Silent_p.H369H	p.H449H	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		10	1690	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	449		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Silent	SNP	ENST00000285900.5	37	c.1347C>T	CCDS4322.1																																																																																									0.537	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3		-4.918834	-16	-16	43	43			3	6.853271	6.853271	53	0.053571	0	0	0	1	0	3	53	0.053571
CACNA1C	775	broad.mit.edu	37	12	2719791	2719791	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:2719791G>A	ENST00000347598.4	+	29	3703	c.3703G>A	c.(3703-3705)Gtg>Atg	p.V1235M	CACNA1C_ENST00000402845.3_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399606.1_Missense_Mutation_p.V1235M|CACNA1C_ENST00000399617.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399601.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399591.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000335762.5_Missense_Mutation_p.V1240M|CACNA1C_ENST00000399655.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399644.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399641.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399634.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399629.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000480911.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000406454.3_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399603.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399638.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399649.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000327702.7_Missense_Mutation_p.V1215M|CACNA1C_ENST00000344100.3_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399597.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399637.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399595.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399621.1_Missense_Mutation_p.V1215M	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1235					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AGTGTGGTACGTGGTCAACTC	0.592																																						ENST00000399655.1											0			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(3643-3645)Gtg>Atg	calcium channel, voltage-dependent, L type, alpha 1C subunit						119.0	126.0	124.0					12																	2719791		2198	4299	6497	SO:0001583	missense	775			axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2719791G>A	AF070589	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			2014-09-17			ENSG00000151067	ENSG00000151067	ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	1390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			114205	114205		CCHL1A1, CACNL1A1		CCHL1A1, CACNL1A1		1650913, 16382099	1650913, 16382099	Standard	Standard	NM_001129832	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	uc001qjy.3	Q13936	Q13936	OTTHUMG00000150243	OTTHUMG00000150243	ENST00000347598.4:c.3703G>A	12.37:g.2719791G>A	ENSP00000266376:p.Val1235Met		CACNA1C_ENST00000327702.7_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399621.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399649.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399637.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000347598.4_Missense_Mutation_p.V1235M|CACNA1C_ENST00000402845.3_Missense_Mutation_p.V1215M|CACNA1C_ENST00000335762.5_Missense_Mutation_p.V1240M|CACNA1C_ENST00000399634.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399601.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399641.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000480911.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399629.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399644.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000406454.3_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399603.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399617.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399595.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000344100.3_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399638.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399597.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399591.1_Missense_Mutation_p.V1215M|CACNA1C_ENST00000399606.1_Missense_Mutation_p.V1235M	p.V1215M	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	28	3908	+			1235		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.3643G>A	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.902190	0.92035	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96619	-3.99;-3.99;-4.01;-4.01;-4.0;-4.02;-4.01;-3.91;-3.95;-4.0;-3.94;-3.93;-3.99;-4.04;-3.91;-3.84;-4.05;-4.04;-4.0;-4.02;-3.96;-4.02;-4.07	5.06	5.06	0.68205	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.97958	0.9328	M	0.73598	2.24	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.984;0.993;1.0;1.0;0.984;1.0;0.996;0.971;1.0;1.0;0.972;1.0;1.0;1.0;1.0;0.99;1.0;0.994;1.0;1.0;1.0;1.0;0.999;0.984	D;P;P;D;D;P;D;P;P;D;D;P;D;D;D;D;P;D;P;D;D;D;D;D;P	0.91635	0.997;0.737;0.759;0.997;0.998;0.737;0.999;0.576;0.576;0.999;0.998;0.782;0.999;0.994;0.997;0.994;0.73;0.999;0.814;0.998;0.999;0.999;0.998;0.991;0.737	D	0.98567	1.0644	10	0.62326	D	0.03	.	18.7859	0.91954	0.0:0.0:1.0:0.0	.	1215;1212;1235;1215;1215;1215;1215;1215;1215;1235;1215;1186;1235;1215;1215;1215;1215;1215;1215;1215;1215;1215;1215;1215;1215	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	M	1240;1215;1215;1215;1215;1215;1215;1215;1215;1215;1235;1235;1215;1215;1215;1215;1215;1215;1215;1215;1215;1215;1215;1056	ENSP00000336982:V1240M;ENSP00000382563:V1215M;ENSP00000437936:V1215M;ENSP00000382552:V1215M;ENSP00000382547:V1215M;ENSP00000382506:V1215M;ENSP00000382530:V1215M;ENSP00000382546:V1215M;ENSP00000382500:V1215M;ENSP00000382549:V1215M;ENSP00000266376:V1235M;ENSP00000382515:V1235M;ENSP00000382510:V1215M;ENSP00000341092:V1215M;ENSP00000382537:V1215M;ENSP00000329877:V1215M;ENSP00000382557:V1215M;ENSP00000385724:V1215M;ENSP00000382512:V1215M;ENSP00000382542:V1215M;ENSP00000382526:V1215M;ENSP00000385896:V1215M;ENSP00000382504:V1215M	ENSP00000323129:V1056M	V	+	1	0	0	CACNA1C	2590052	2590052	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.932000	0.87634	2.508000	0.84585	0.655000	0.94253	GTG		0.592	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1		11.125676	-19	-19	50	50	NM_000719		6	15.366337	15.366337	32	0.157895	0	0	0	1	0	6	32	0.157895
GPR83	10888	broad.mit.edu	37	11	94113805	94113805	+	Missense_Mutation	SNP	C	C	T	rs139287789		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:94113805C>T	ENST00000243673.2	-	4	953	c.782G>A	c.(781-783)cGt>cAt	p.R261H	GPR83_ENST00000539203.2_Missense_Mutation_p.R219H	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	261					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CTTGGCCACACGAGCGTAGGC	0.527																																						ENST00000243673.2											0			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19						c.(781-783)cGt>cAt	G protein-coupled receptor 83	C	HIS/ARG	0,4402		0,0,2201	72.0	64.0	67.0		782	4.4	0.4	11	dbSNP_134	67	1,8595	1.2+/-3.3	0,1,4297	no	missense	GPR83	NM_016540.3	29	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	benign	261/424	94113805	1,12997	2201	4298	6499	SO:0001583	missense	10888				integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr11:94113805C>T	AF236081	AF236081	CCDS8297.1	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901	ENSG00000123901	ENSG00000123901		"""GPCR / Class A : Orphans"""	"""GPCR / Class A : Orphans"""	4523	4523	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605569	605569	"""G protein-coupled receptor 72"""	GPR72	"""G protein-coupled receptor 72"""	GPR72		10760605, 11060465	10760605, 11060465	Standard	Standard	NM_016540	NM_016540		Approved		uc001pet.2	uc001pet.2	Q9NYM4	Q9NYM4	OTTHUMG00000167779	OTTHUMG00000167779	ENST00000243673.2:c.782G>A	11.37:g.94113805C>T	ENSP00000243673:p.Arg261His		GPR83_ENST00000539203.2_Missense_Mutation_p.R219H	p.R261H	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN			4	953	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	261		B0M0K5|Q6NWR4|Q9P1Y8	Missense_Mutation	SNP	ENST00000243673.2	37	c.782G>A	CCDS8297.1	.	.	.	.	.	.	.	.	.	.	C	9.499	1.102782	0.20632	0.0	1.16E-4	ENSG00000123901	ENST00000243673;ENST00000539203	T;T	0.39056	1.1;1.1	5.41	4.44	0.53790	5.41	4.44	0.53790	GPCR, rhodopsin-like superfamily (1);	0.258283	0.36703	N	0.002441	T	0.27524	0.0676	L	0.33093	0.98	0.23411	N	0.997737	B	0.18461	0.028	B	0.15870	0.014	T	0.09930	-1.0652	10	0.15499	T	0.54	.	8.617	0.33838	0.1509:0.586:0.2631:0.0	.	261	Q9NYM4	GPR83_HUMAN	H	261;219	ENSP00000243673:R261H;ENSP00000441550:R219H	ENSP00000243673:R261H	R	-	2	0	0	GPR83	93753453	93753453	0.995000	0.38212	0.363000	0.25875	0.982000	0.71751	2.604000	0.46274	2.535000	0.85469	0.655000	0.94253	CGT		0.527	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396232.1		3.809394	1	1	26	26	NM_016540		3	6.627531	6.627531	19	0.136364	0	0	0	1	0	3	19	0.136364
CYP27B1	1594	broad.mit.edu	37	12	58157521	58157521	+	Missense_Mutation	SNP	C	C	T	rs568165874		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:58157521C>T	ENST00000228606.4	-	8	1495	c.1286G>A	c.(1285-1287)cGt>cAt	p.R429H	CYP27B1_ENST00000546496.1_5'Flank	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	429			R -> P (in VDDR1A). {ECO:0000269|PubMed:9837822}.		bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	GCGAGCTGGACGAAAAGAATT	0.567																																						ENST00000228606.4											0			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	GRCh37	CM980514	CYP27B1	M		c.(1285-1287)cGt>cAt	cytochrome P450, family 27, subfamily B, polypeptide 1						62.0	68.0	66.0					12																	58157521		2203	4300	6503	SO:0001583	missense	1594			bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding	g.chr12:58157521C>T	AB006987	AB006987	CCDS8954.1	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012	ENSG00000111012	ENSG00000111012		"""Cytochrome P450s"""	"""Cytochrome P450s"""	2606	2606	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""VDDR I"", ""1alpha(OH)ase"", ""25-Hydroxyvitamin D3 1alpha-hydroxylase"""	"""VDDR I"", ""1alpha(OH)ase"", ""25-Hydroxyvitamin D3 1alpha-hydroxylase"""	609506	609506	"""cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"""	VDD1, PDDR	"""cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"""	VDD1, PDDR		9295274, 9344864	9295274, 9344864	Standard	Standard	NM_000785	NM_000785		Approved	CYP1, P450c1	uc001spz.1	uc001spz.1	O15528	O15528	OTTHUMG00000170457	OTTHUMG00000170457	ENST00000228606.4:c.1286G>A	12.37:g.58157521C>T	ENSP00000228606:p.Arg429His			p.R429H	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		8	1495	-	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		429		B2RC61|Q548T3	Missense_Mutation	SNP	ENST00000228606.4	37	c.1286G>A	CCDS8954.1	.	.	.	.	.	.	.	.	.	.	C	9.747	1.166448	0.21621	.	.	ENSG00000111012	ENST00000228606	T	0.70045	-0.45	5.23	-0.551	0.11822	5.23	-0.551	0.11822	.	0.825490	0.11253	N	0.583388	T	0.54598	0.1868	L	0.45137	1.4	0.21553	N	0.999648	B	0.22146	0.065	B	0.24848	0.056	T	0.40346	-0.9568	10	0.15066	T	0.55	.	11.1924	0.48693	0.0:0.4814:0.0:0.5186	.	429	O15528	CP27B_HUMAN	H	429	ENSP00000228606:R429H	ENSP00000228606:R429H	R	-	2	0	0	CYP27B1	56443788	56443788	0.001000	0.12720	0.794000	0.32065	0.882000	0.50991	-0.098000	0.11024	-0.239000	0.09710	-1.598000	0.00824	CGT		0.567	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409248.1		-2.008182	11	11	76	76	NM_000785		3	6.478019	6.478019	41	0.068182	0	0	0	1	0	3	41	0.068182
PARD3	56288	broad.mit.edu	37	10	34648125	34648125	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr10:34648125G>A	ENST00000374789.3	-	14	2342	c.2017C>T	c.(2017-2019)Cga>Tga	p.R673*	PARD3_ENST00000374794.3_Nonsense_Mutation_p.R616*|PARD3_ENST00000346874.4_Nonsense_Mutation_p.R673*|PARD3_ENST00000545693.1_Nonsense_Mutation_p.R660*|PARD3_ENST00000350537.4_Nonsense_Mutation_p.R660*|PARD3_ENST00000374776.1_Nonsense_Mutation_p.R660*|PARD3_ENST00000374788.3_Nonsense_Mutation_p.R673*|PARD3_ENST00000374790.3_Nonsense_Mutation_p.R616*|PARD3_ENST00000374768.1_Nonsense_Mutation_p.R111*|PARD3_ENST00000374773.1_Nonsense_Mutation_p.R673*|PARD3_ENST00000545260.1_Nonsense_Mutation_p.R616*|PARD3_ENST00000340077.5_Nonsense_Mutation_p.R673*|PARD3_ENST00000544292.1_Nonsense_Mutation_p.R390*	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	673	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				ATCATTCCTCGTTTATTGCCT	0.378																																						ENST00000374789.3											0			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63						c.(2017-2019)Cga>Tga	par-3 family cell polarity regulator						220.0	202.0	208.0					10																	34648125		2203	4300	6503	SO:0001587	stop_gained	56288			activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34648125G>A	AF252293	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498	ENSG00000148498	ENSG00000148498				16051	16051	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""		"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	10934474	Standard	Standard	NM_001184790	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	uc010qej.2	Q8TEW0	Q8TEW0	OTTHUMG00000017948	OTTHUMG00000017948	ENST00000374789.3:c.2017C>T	10.37:g.34648125G>A	ENSP00000363921:p.Arg673*		PARD3_ENST00000374768.1_Nonsense_Mutation_p.R111*|PARD3_ENST00000374790.3_Nonsense_Mutation_p.R616*|PARD3_ENST00000545260.1_Nonsense_Mutation_p.R616*|PARD3_ENST00000374794.3_Nonsense_Mutation_p.R616*|PARD3_ENST00000350537.4_Nonsense_Mutation_p.R660*|PARD3_ENST00000374773.1_Nonsense_Mutation_p.R673*|PARD3_ENST00000374776.1_Nonsense_Mutation_p.R660*|PARD3_ENST00000340077.5_Nonsense_Mutation_p.R673*|PARD3_ENST00000544292.1_Nonsense_Mutation_p.R390*|PARD3_ENST00000545693.1_Nonsense_Mutation_p.R660*|PARD3_ENST00000374788.3_Nonsense_Mutation_p.R673*|PARD3_ENST00000346874.4_Nonsense_Mutation_p.R673*	p.R673*	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN			14	2342	-		Breast(68;0.0707)	673	PDZ 3.	F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Nonsense_Mutation	SNP	ENST00000374789.3	37	c.2017C>T	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	G	42	9.710949	0.99245	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773;ENST00000544292;ENST00000374768	.	.	.	5.74	4.81	0.61882	5.74	4.81	0.61882	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.8356	0.63408	0.0:0.0:0.725:0.275	.	.	.	.	X	660;616;673;673;673;616;660;616;660;673;673;390;111	.	ENSP00000341844:R673X	R	-	1	2	2	PARD3	34688131	34688131	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.847000	0.55895	2.719000	0.93026	0.655000	0.94253	CGA		0.378	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1		83.945150	-45	-45	155	155	NM_019619		29	86.470095	86.470095	61	0.322222	0	0	0	1	0	29	61	0.322222
FAM127A	8933	broad.mit.edu	37	X	134166518	134166518	+	Silent	SNP	C	C	T	rs201161184		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:134166518C>T	ENST00000257013.7	+	1	186	c.105C>T	c.(103-105)ggC>ggT	p.G35G	FAM127A_ENST00000464369.1_3'UTR	NM_001078171.1	NP_001071639.1	O15255	CXX1_HUMAN	family with sequence similarity 127, member A	0						plasma membrane (GO:0005886)				endometrium(3)|urinary_tract(1)	4	Acute lymphoblastic leukemia(192;0.000127)					CGTTTGACGGCGATACCGACC	0.622																																						ENST00000257013.7											0			endometrium(3)|urinary_tract(1)	4						c.(103-105)ggC>ggT	family with sequence similarity 127, member A						106.0	108.0	107.0					X																	134166518		2163	4233	6396	SO:0001819	synonymous_variant	8933						g.chrX:134166518C>T	Y13374	Y13374	CCDS43997.1	CCDS43997.1	Xq26	2014-05-16	2006-11-16	2006-11-16	2014-05-16	2006-11-16	2006-11-16	ENSG00000134590	ENSG00000134590	ENSG00000134590	ENSG00000134590				2569	2569	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300213	300213	"""CAAX box 1"""	CXX1	"""CAAX box 1"""	CXX1		9403077, 15716091, 16093683	9403077, 15716091, 16093683	Standard	Standard	NM_001078171	NM_001078171		Approved	Mart8, Mar8, MAR8C	uc004eyd.3	uc004eyd.3	A6ZKI3	A6ZKI3	OTTHUMG00000022465	OTTHUMG00000022465	ENST00000257013.7:c.105C>T	X.37:g.134166518C>T			FAM127A_ENST00000464369.1_3'UTR	p.G35G	NM_001078171.1	NP_001071639.1	A6ZKI3	F127A_HUMAN			1	186	+	Acute lymphoblastic leukemia(192;0.000127)		35		Q6IBF1	Silent	SNP	ENST00000257013.7	37	c.105C>T	CCDS43997.1																																																																																									0.622	FAM127A-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058391.2		22.822118	-10	-10	126	126	NM_001078171		13	31.491557	31.491557	67	0.162500	0	0	0	1	0	13	67	0.1625
MYO7A	4647	broad.mit.edu	37	11	76890115	76890115	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:76890115C>T	ENST00000409709.3	+	20	2579	c.2307C>T	c.(2305-2307)aaC>aaT	p.N769N	MYO7A_ENST00000409893.1_Silent_p.N769N|MYO7A_ENST00000409619.2_Silent_p.N758N|MYO7A_ENST00000458637.2_Silent_p.N769N	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	769	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGCTGAAGAACGCTGCCACAC	0.587																																						ENST00000409709.3											0			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(2305-2307)aaC>aaT	myosin VIIA						36.0	41.0	39.0					11																	76890115		2127	4225	6352	SO:0001819	synonymous_variant	4647			actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76890115C>T	U39226	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474	ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	7606	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			276903	276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	8884266	Standard	Standard	NM_000260	NM_000260		Approved	NSRD2	uc001oyb.2	uc001oyb.2	Q13402	Q13402	OTTHUMG00000152822	OTTHUMG00000152822	ENST00000409709.3:c.2307C>T	11.37:g.76890115C>T			MYO7A_ENST00000409619.2_Silent_p.N758N|MYO7A_ENST00000409893.1_Silent_p.N769N|MYO7A_ENST00000458637.2_Silent_p.N769N	p.N769N	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			20	2579	+			769	IQ 2.	B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Silent	SNP	ENST00000409709.3	37	c.2307C>T	CCDS53683.1																																																																																									0.587	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1		16.476987	-3	-3	15	15	NM_000260		5	16.586818	16.586818	3	0.625000	0	0	0	1	0	5	3	0.625
MAOB	4129	broad.mit.edu	37	X	43702951	43702951	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:43702951G>A	ENST00000378069.4	-	2	253	c.106C>T	c.(106-108)Cgg>Tgg	p.R36W	MAOB_ENST00000487544.1_5'UTR|MAOB_ENST00000538942.1_Missense_Mutation_p.R20W|MAOB_ENST00000536181.1_Missense_Mutation_p.R20W	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	36	Arg/Lys-rich (basic).				negative regulation of serotonin secretion (GO:0014063)|positive regulation of dopamine metabolic process (GO:0045964)|response to aluminum ion (GO:0010044)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|primary amine oxidase activity (GO:0008131)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Amphetamine(DB00182)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Procaine(DB00721)|Rasagiline(DB01367)|Selegiline(DB01037)|Sertraline(DB01104)|Tranylcypromine(DB00752)|Zonisamide(DB00909)	ACACGGTCCCGGGCTTCCAGA	0.483																																						ENST00000378069.4											0			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21						c.(106-108)Cgg>Tgg	monoamine oxidase B						91.0	76.0	81.0					X																	43702951		2203	4300	6503	SO:0001583	missense	4129			xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity	g.chrX:43702951G>A			CCDS14261.1	CCDS14261.1	Xp11.4-p11.3	2008-02-05			2008-02-05			ENSG00000069535	ENSG00000069535	ENSG00000069535	ENSG00000069535	1.4.3.4			6834	6834	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			309860	309860								Standard	Standard	NM_000898	NM_000898		Approved		uc004dfz.4	uc004dfz.4	P27338	P27338	OTTHUMG00000021388	OTTHUMG00000021388	ENST00000378069.4:c.106C>T	X.37:g.43702951G>A	ENSP00000367309:p.Arg36Trp		MAOB_ENST00000536181.1_Missense_Mutation_p.R20W|MAOB_ENST00000487544.1_5'UTR|MAOB_ENST00000538942.1_Missense_Mutation_p.R20W	p.R36W	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN			2	253	-			36	Arg/Lys-rich (basic).	B2R6R3|B7Z5H3|D3DWC3|Q7Z6S2	Missense_Mutation	SNP	ENST00000378069.4	37	c.106C>T	CCDS14261.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.105717	0.77096	.	.	ENSG00000069535	ENST00000378069;ENST00000536181;ENST00000538942	D;D;D	0.94828	-3.53;-3.53;-3.53	5.54	4.65	0.58169	5.54	4.65	0.58169	Amine oxidase (1);	0.164390	0.53938	D	0.000057	D	0.97717	0.9251	H	0.96080	3.765	0.54753	D	0.999986	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.97717	1.0194	10	0.87932	D	0	-17.0957	7.9123	0.29798	0.0801:0.0:0.6339:0.286	.	20;36;36	B7Z5H3;Q8TBI1;P27338	.;.;AOFB_HUMAN	W	36;20;20	ENSP00000367309:R36W;ENSP00000441613:R20W;ENSP00000442240:R20W	ENSP00000367309:R36W	R	-	1	2	2	MAOB	43587895	43587895	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.899000	0.48679	2.318000	0.78349	0.600000	0.82982	CGG		0.483	MAOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056303.1		31.980307	-12	-12	68	68	NM_000898		12	35.061463	35.061463	38	0.240000	0	0	0	1	0	12	38	0.24
ANGPT4	51378	broad.mit.edu	37	20	860425	860425	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr20:860425C>T	ENST00000381922.3	-	6	1120	c.1018G>A	c.(1018-1020)Gtg>Atg	p.V340M	ANGPT4_ENST00000546022.1_Missense_Mutation_p.V340M	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	340	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						TGAAAATTCACGGTGCCATTC	0.617																																					Pancreas(181;481 2077 3259 31286 49856)	ENST00000381922.3											0			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						c.(1018-1020)Gtg>Atg	angiopoietin 4						82.0	75.0	78.0					20																	860425		2203	4300	6503	SO:0001583	missense	51378			anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr20:860425C>T	AF074332	AF074332	CCDS13009.1	CCDS13009.1	20p13	2013-02-06			2013-02-06			ENSG00000101280	ENSG00000101280	ENSG00000101280	ENSG00000101280		"""Fibrinogen C domain containing"""	"""Fibrinogen C domain containing"""	487	487	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603705	603705						10051567, 10218486	10051567, 10218486	Standard	Standard	NM_015985	NM_015985		Approved		uc002wei.3	uc002wei.3	Q9Y264	Q9Y264	OTTHUMG00000031652	OTTHUMG00000031652	ENST00000381922.3:c.1018G>A	20.37:g.860425C>T	ENSP00000371347:p.Val340Met		ANGPT4_ENST00000546022.1_Missense_Mutation_p.V340M	p.V340M	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN			6	1120	-			340	Fibrinogen C-terminal.	B4E3J9|Q5TFF4|Q9H4Z4	Missense_Mutation	SNP	ENST00000381922.3	37	c.1018G>A	CCDS13009.1	.	.	.	.	.	.	.	.	.	.	C	9.573	1.121658	0.20877	.	.	ENSG00000101280	ENST00000381922;ENST00000546022	T;T	0.35236	1.82;1.32	5.44	2.45	0.29901	5.44	2.45	0.29901	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.355854	0.25458	N	0.030524	T	0.49372	0.1553	H	0.97707	4.06	0.09310	N	0.999996	D;P	0.55385	0.971;0.945	B;B	0.41860	0.368;0.131	T	0.57957	-0.7721	10	0.87932	D	0	.	5.0409	0.14458	0.1203:0.6288:0.1165:0.1344	.	340;340	B4E3J9;Q9Y264	.;ANGP4_HUMAN	M	340	ENSP00000371347:V340M;ENSP00000439605:V340M	ENSP00000371347:V340M	V	-	1	0	0	ANGPT4	808425	808425	0.123000	0.22298	0.001000	0.08648	0.205000	0.24178	0.891000	0.28309	0.411000	0.25702	0.655000	0.94253	GTG		0.617	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1		15.505245	11	11	66	66	NM_015985		7	18.233221	18.233221	27	0.205882	0	0	0	1	0	7	27	0.205882
CLP1	10978	broad.mit.edu	37	11	57428246	57428246	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:57428246C>T	ENST00000302731.4	+	3	544	c.424C>T	c.(424-426)Cgt>Tgt	p.R142C	CLP1_ENST00000529430.1_Missense_Mutation_p.R217C|CLP1_ENST00000533682.1_Missense_Mutation_p.R206C|CLP1_ENST00000525602.1_Missense_Mutation_p.R206C	NM_001142597.1|NM_006831.2	NP_001136069.1|NP_006822.1	Q5KU26	COL12_HUMAN	cleavage and polyadenylation factor I subunit 1	0					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1)	15						GATTACATCTCGTTTAGCAGA	0.438																																						ENST00000533682.1											0			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1)	15						c.(616-618)Cgt>Tgt	cleavage and polyadenylation factor I subunit 1						101.0	97.0	99.0					11																	57428246		2201	4296	6497	SO:0001583	missense	10978			mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation	nucleoplasm|tRNA-intron endonuclease complex	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity	g.chr11:57428246C>T	BC000446	BC000446	CCDS7964.1, CCDS44600.1	CCDS7964.1, CCDS44600.1	11q12.1	2012-10-02	2012-10-02		2012-10-02	2012-10-02		ENSG00000172409	ENSG00000172409	ENSG00000172409	ENSG00000172409	2.7.1.78			16999	16999	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""ATP/GTPbinding protein"", ""polyribonucleotide 5'-hydroxyl-kinase"""	"""ATP/GTPbinding protein"", ""polyribonucleotide 5'-hydroxyl-kinase"""	608757	608757	"""CLP1, cleavage and polyadenylation factor I subunit, homolog (S. cerevisiae)"""		"""CLP1, cleavage and polyadenylation factor I subunit, homolog (S. cerevisiae)"""			8896421, 11060040	8896421, 11060040	Standard	Standard	NM_006831	NM_006831		Approved	HEAB, hClp1	uc001nkw.3	uc001nkw.3	Q92989	Q92989	OTTHUMG00000167146	OTTHUMG00000167146	ENST00000302731.4:c.424C>T	11.37:g.57428246C>T	ENSP00000304704:p.Arg142Cys		CLP1_ENST00000302731.4_Missense_Mutation_p.R142C|CLP1_ENST00000529430.1_Missense_Mutation_p.R217C|CLP1_ENST00000525602.1_Missense_Mutation_p.R206C	p.R206C			Q92989	CLP1_HUMAN			3	1341	+			206		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000302731.4	37	c.616C>T	CCDS44600.1	.	.	.	.	.	.	.	.	.	.	c	13.52	2.262061	0.39995	.	.	ENSG00000172409	ENST00000529430;ENST00000533682;ENST00000525602;ENST00000302731	T;T;T;T	0.49139	0.79;0.79;0.79;0.97	6.05	5.14	0.70334	6.05	5.14	0.70334	.	0.092787	0.85682	D	0.000000	T	0.43809	0.1264	L	0.46157	1.445	0.80722	D	1	B;B	0.13145	0.005;0.007	B;B	0.15484	0.001;0.013	T	0.32268	-0.9913	10	0.51188	T	0.08	-20.5558	14.9414	0.70997	0.0:0.9313:0.0:0.0687	.	142;206	Q92989-2;Q92989	.;CLP1_HUMAN	C	217;206;206;142	ENSP00000433406:R217C;ENSP00000434995:R206C;ENSP00000436066:R206C;ENSP00000304704:R142C	ENSP00000304704:R142C	R	+	1	0	0	CLP1	57184822	57184822	0.996000	0.38824	0.672000	0.29872	0.990000	0.78478	3.095000	0.50235	1.586000	0.49944	0.645000	0.84053	CGT		0.438	CLP1-003	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000393465.1		9.180725	-13	-13	73	73	NM_006831		7	17.609755	17.609755	52	0.118644	0	0	0	1	0	7	52	0.118644
PLCL1	5334	broad.mit.edu	37	2	198948757	198948757	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:198948757G>A	ENST00000428675.1	+	2	914	c.516G>A	c.(514-516)acG>acA	p.T172T	PLCL1_ENST00000437704.2_Silent_p.T74T	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	172	Interaction with PPP1C.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.T74T(2)|p.T172T(2)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GGAAAAACACGGAAACATTTA	0.463																																						ENST00000428675.1											4	Substitution - coding silent(4)	lung(4)	autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(514-516)acG>acA	phospholipase C-like 1						115.0	121.0	119.0					2																	198948757		2203	4300	6503	SO:0001819	synonymous_variant	5334			intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198948757G>A	D42108	D42108	CCDS2326.1, CCDS2326.2	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896	ENSG00000115896	ENSG00000115896				9063	9063	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	600597	"""phospholipase C, epsilon"""	PLCE	"""phospholipase C, epsilon"""	PLCE		7633416	7633416	Standard	Standard	NM_006226	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	uc010fsp.3	Q15111	Q15111	OTTHUMG00000132750	OTTHUMG00000132750	ENST00000428675.1:c.516G>A	2.37:g.198948757G>A			PLCL1_ENST00000437704.2_Silent_p.T74T	p.T172T	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN			2	914	+			172	Interaction with PPP1C.|PH.	Q3MJ90|Q53SD3|Q7Z3S3	Silent	SNP	ENST00000428675.1	37	c.516G>A	CCDS2326.2																																																																																									0.463	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1		95.173145	0	0	86	86	NM_006226		29	95.205099	95.205099	32	0.475410	0	0	0	1	0	29	32	0.47541
NBPF3	84224	broad.mit.edu	37	1	21809642	21809642	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:21809642C>T	ENST00000318249.5	+	15	2015	c.1665C>T	c.(1663-1665)aaC>aaT	p.N555N	NBPF3_ENST00000342104.5_Silent_p.N543N|NBPF3_ENST00000454000.2_Silent_p.N485N|NBPF3_ENST00000318220.6_Silent_p.N499N	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	555	NBPF 5. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCAGGCTCAACGAGGTGCTGA	0.458																																						ENST00000318220.6											0			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(1495-1497)aaC>aaT	neuroblastoma breakpoint family, member 3						65.0	66.0	66.0					1																	21809642		2199	4294	6493	SO:0001819	synonymous_variant	84224				cytoplasm		g.chr1:21809642C>T	BC024011	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			2013-01-17			ENSG00000142794	ENSG00000142794	ENSG00000142794	ENSG00000142794		"""neuroblastoma breakpoint family"""	"""neuroblastoma breakpoint family"""	25076	25076	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612992	612992						11230166, 16079250	11230166, 16079250	Standard	Standard	NM_032264	NM_032264		Approved	AE2	uc001ber.4	uc001ber.4	Q9H094	Q9H094	OTTHUMG00000002944	OTTHUMG00000002944	ENST00000318249.5:c.1665C>T	1.37:g.21809642C>T			NBPF3_ENST00000454000.2_Silent_p.N485N|NBPF3_ENST00000342104.5_Silent_p.N543N|NBPF3_ENST00000318249.5_Silent_p.N555N	p.N499N			Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	18	2545	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	555	NBPF 4.	A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Silent	SNP	ENST00000318249.5	37	c.1497C>T	CCDS216.1																																																																																									0.458	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			103.694307	-16	-16	130	130	NM_032264		32	103.725985	103.725985	29	0.524590	0	0	0	1	0	32	29	0.52459
PPP6R2	9701	broad.mit.edu	37	22	50861960	50861960	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr22:50861960C>T	ENST00000216061.5	+	11	1412	c.1042C>T	c.(1042-1044)Cgc>Tgc	p.R348C	PPP6R2_ENST00000359139.3_Missense_Mutation_p.R348C|PPP6R2_ENST00000395741.3_Missense_Mutation_p.R349C|PPP6R2_ENST00000395744.3_Missense_Mutation_p.R348C			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	348						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						GCATGGCGCCCGCCTCATGGC	0.597																																						ENST00000359139.3											0			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						c.(1042-1044)Cgc>Tgc	protein phosphatase 6, regulatory subunit 2						103.0	85.0	91.0					22																	50861960		2203	4300	6503	SO:0001583	missense	9701				cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr22:50861960C>T	AB014585	AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239	ENSG00000100239	ENSG00000100239		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	19253	19253	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610877	610877	"""KIAA0685"", ""SAPS domain family, member 2"""	KIAA0685, SAPS2	"""KIAA0685"", ""SAPS domain family, member 2"""	KIAA0685, SAPS2		16769727	16769727	Standard	Standard	NM_014678	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	uc003blc.3	O75170	O75170	OTTHUMG00000150199	OTTHUMG00000150199	ENST00000216061.5:c.1042C>T	22.37:g.50861960C>T	ENSP00000216061:p.Arg348Cys		PPP6R2_ENST00000395741.3_Missense_Mutation_p.R349C|PPP6R2_ENST00000395744.3_Missense_Mutation_p.R348C|PPP6R2_ENST00000216061.5_Missense_Mutation_p.R348C	p.R348C	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN			10	1436	+			348		A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Missense_Mutation	SNP	ENST00000216061.5	37	c.1042C>T		.	.	.	.	.	.	.	.	.	.	C	20.3	3.971290	0.74246	.	.	ENSG00000100239	ENST00000359139;ENST00000395741;ENST00000395744;ENST00000216061	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.67	5.67	0.87782	5.67	5.67	0.87782	.	0.102883	0.64402	D	0.000004	T	0.59514	0.2199	M	0.82056	2.57	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.78314	0.984;0.991;0.977;0.984;0.977	T	0.63274	-0.6674	10	0.87932	D	0	-32.374	17.2603	0.87068	0.0:1.0:0.0:0.0	.	348;348;349;348;348	O75170-5;O75170;O75170-3;O75170-4;O75170-2	.;PP6R2_HUMAN;.;.;.	C	348;349;348;348	ENSP00000352051:R348C;ENSP00000379090:R349C;ENSP00000379093:R348C;ENSP00000216061:R348C	ENSP00000216061:R348C	R	+	1	0	0	PPP6R2	49208826	49208826	0.899000	0.30636	1.000000	0.80357	0.987000	0.75469	1.752000	0.38349	2.685000	0.91497	0.591000	0.81541	CGC		0.597	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316809.1		15.537655	-10	-10	51	51	NM_014678		7	19.065403	19.065403	31	0.184211	0	0	0	1	0	7	31	0.184211
DCP1B	196513	broad.mit.edu	37	12	2062235	2062235	+	Missense_Mutation	SNP	A	A	G			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:2062235A>G	ENST00000280665.6	-	7	950	c.871T>C	c.(871-873)Tgt>Cgt	p.C291R	DCP1B_ENST00000540622.1_Missense_Mutation_p.C165R|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.C189R	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	291					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			ATGGCTGGACAGAGCTGCTTC	0.547																																						ENST00000280665.6											0			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24						c.(871-873)Tgt>Cgt	decapping mRNA 1B						70.0	74.0	73.0					12																	2062235		2203	4300	6503	SO:0001583	missense	196513			exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2062235A>G	AY146652	AY146652	CCDS31727.1	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065	ENSG00000151065	ENSG00000151065				24451	24451	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609843	609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""		"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	12417715, 15067023	Standard	Standard	NM_152640	NM_152640		Approved	FLJ31638	uc001qjx.1	uc001qjx.1	Q8IZD4	Q8IZD4	OTTHUMG00000168113	OTTHUMG00000168113	ENST00000280665.6:c.871T>C	12.37:g.2062235A>G	ENSP00000280665:p.Cys291Arg		DCP1B_ENST00000540622.1_Missense_Mutation_p.C165R|DCP1B_ENST00000397173.4_Missense_Mutation_p.C189R|DCP1B_ENST00000541700.1_5'UTR	p.C291R	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		7	950	-			291		B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	37	c.871T>C	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	A	19.61	3.859306	0.71834	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.59638	0.69;0.52;0.25	5.13	5.13	0.70059	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.73536	0.3599	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.76176	-0.3055	10	0.62326	D	0.03	-14.1539	14.2709	0.66152	1.0:0.0:0.0:0.0	.	189;291	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	R	291;189;165	ENSP00000280665:C291R;ENSP00000380358:C189R;ENSP00000444374:C165R	ENSP00000280665:C291R	C	-	1	0	0	DCP1B	1932496	1932496	1.000000	0.71417	0.986000	0.45419	0.974000	0.67602	6.917000	0.75782	2.153000	0.67306	0.528000	0.53228	TGT		0.547	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1		53.140872	5	5	67	67	NM_152640		18	54.110723	54.110723	33	0.352941	0	0	0	1	0	18	33	0.352941
MYH9	4627	broad.mit.edu	37	22	36684926	36684926	+	Silent	SNP	C	C	T	rs369996404		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr22:36684926C>T	ENST00000216181.5	-	33	4847	c.4617G>A	c.(4615-4617)acG>acA	p.T1539T	MYH9_ENST00000475726.1_5'Flank	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1539					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CTTCCAGCTGCGTCTTCATCT	0.632			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5		Dom	yes		22	22q13.1	4627	"""myosin, heavy polypeptide 9, non-muscle"""	yes	L	0			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(4615-4617)acG>acA	myosin, heavy chain 9, non-muscle	C		1,4405	2.1+/-5.4	0,1,2202	99.0	92.0	94.0		4617	-4.9	0.9	22		94	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MYH9	NM_002473.4		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		1539/1961	36684926	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4627	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36684926C>T			CCDS13927.1	CCDS13927.1	22q13.1	2014-09-17	2006-09-29		2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345	ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	"""Myosins / Myosin superfamily : Class II"""	7579	7579	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	"""nonmuscle myosin heavy chain II-A"""	160775	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	1860190, 11023810	Standard	Standard	NM_002473	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	uc003apg.3	P35579	P35579	OTTHUMG00000030429	OTTHUMG00000030429	ENST00000216181.5:c.4617G>A	22.37:g.36684926C>T				p.T1539T	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			33	4847	-			1539		A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP	ENST00000216181.5	37	c.4617G>A	CCDS13927.1																																																																																									0.632	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3		-10.672674	-14	-14	108	108	NM_002473		4	8.187794	8.187794	82	0.046512	0	0	0	1	0	4	82	0.046512
DPP4	1803	ucsc.edu	37	2	162877139	162877139	+	Missense_Mutation	SNP	G	G	T	rs199672034	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:162877139G>T	ENST00000360534.3	-	13	1688	c.1128C>A	c.(1126-1128)agC>agA	p.S376R		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	376					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	CTTCTTCATTGCTGATGATCT	0.308																																																	0																	78.0	78.0	78.0					2																	162877139		2203	4300	6503	SO:0001583	missense	1803							M74777	M74777	CCDS2216.1	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	"""CD molecules"""	3009	3009	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			102720	102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	8101391	Standard	Standard	NM_001935	NM_001935		Approved	DPPIV	uc002ubz.3	uc002ubz.3	P27487	P27487	OTTHUMG00000132056	OTTHUMG00000132056	ENST00000360534.3:c.1128C>A	2.37:g.162877139G>T	ENSP00000353731:p.Ser376Arg																	Q53TN1	Missense_Mutation	SNP	ENST00000360534.3	37		CCDS2216.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.547277	0.65311	.	.	ENSG00000197635	ENST00000360534	T	0.31247	1.5	5.65	3.54	0.40534	5.65	3.54	0.40534	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.53318	0.1789	M	0.83312	2.635	0.58432	D	0.999998	D	0.76494	0.999	D	0.66497	0.944	T	0.56214	-0.8016	10	0.66056	D	0.02	-20.0859	9.8978	0.41329	0.2547:0.0:0.7453:0.0	.	376	P27487	DPP4_HUMAN	R	376	ENSP00000353731:S376R	ENSP00000353731:S376R	S	-	3	2	2	DPP4	162585385	162585385	0.878000	0.30173	0.917000	0.36280	0.974000	0.67602	0.372000	0.20467	0.755000	0.32990	0.655000	0.94253	AGC		0.308	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2			1	1	42	42			4			33							4	33	
PUS3	83480	broad.mit.edu	37	11	125763823	125763823	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:125763823G>A	ENST00000530811.1	-	3	1348	c.1303C>T	c.(1303-1305)Cga>Tga	p.R435*	HYLS1_ENST00000526028.1_Intron|HYLS1_ENST00000425380.2_Intron|PUS3_ENST00000227474.3_Nonsense_Mutation_p.R435*|HYLS1_ENST00000356438.3_Intron			Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	435					tRNA pseudouridine synthesis (GO:0031119)	nucleus (GO:0005634)	pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		TGCTCAATTCGTCCCCTACGT	0.453																																						ENST00000227474.3											0			NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10						c.(1303-1305)Cga>Tga	pseudouridylate synthase 3						224.0	217.0	219.0					11																	125763823		2201	4299	6500	SO:0001587	stop_gained	83480				nucleus	RNA binding	g.chr11:125763823G>A	BC004822	BC004822	CCDS8466.1, CCDS73411.1	CCDS8466.1, CCDS73411.1	11q24.2	2008-02-05			2008-02-05										25461	25461	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12477932	12477932	Standard	Standard	NM_031307	NM_031307		Approved	FKSG32	uc001qcy.2	uc001qcy.2	Q9BZE2	Q9BZE2			ENST00000530811.1:c.1303C>T	11.37:g.125763823G>A	ENSP00000432386:p.Arg435*		HYLS1_ENST00000425380.2_Intron|HYLS1_ENST00000526028.1_Intron|HYLS1_ENST00000356438.3_Intron|PUS3_ENST00000530811.1_Nonsense_Mutation_p.R435*	p.R435*	NM_001271985.1|NM_031307.3	NP_001258914.1|NP_112597	Q9BZE2	PUS3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)	4	1400	-	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)	435		B2RAM0|Q96D17|Q96J23|Q96NB4	Nonsense_Mutation	SNP	ENST00000530811.1	37	c.1303C>T	CCDS8466.1	.	.	.	.	.	.	.	.	.	.	G	35	5.434132	0.96150	.	.	ENSG00000110060	ENST00000227474;ENST00000530811	.	.	.	5.1	1.67	0.24075	5.1	1.67	0.24075	.	0.113923	0.56097	D	0.000040	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.0923	10.221	0.43196	0.0:0.1095:0.5456:0.3448	.	.	.	.	X	435	.	ENSP00000227474:R435X	R	-	1	2	2	PUS3	125269033	125269033	1.000000	0.71417	0.577000	0.28562	0.981000	0.71138	1.656000	0.37355	0.500000	0.27991	0.591000	0.81541	CGA		0.453	PUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386783.1		-8.805168	-11	-11	159	159	NM_031307		8	17.54499	17.544990	123	0.061069	0	0	0	1	0	8	123	0.061069
RPL10A	4736	broad.mit.edu	37	6	35437971	35437971	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:35437971C>T	ENST00000322203.6	+	5	353	c.326C>T	c.(325-327)gCg>gTg	p.A109V	RPL10A_ENST00000467020.1_3'UTR	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN	ribosomal protein L10a	109					anatomical structure morphogenesis (GO:0009653)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|large_intestine(2)|ovary(1)	4						AAGTATGATGCGTTTTTGGCC	0.498																																						ENST00000322203.6											0			breast(1)|large_intestine(2)|ovary(1)	4						c.(325-327)gCg>gTg	ribosomal protein L10a						101.0	91.0	94.0					6																	35437971		2203	4300	6503	SO:0001583	missense	4736			anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr6:35437971C>T	U12404	U12404	CCDS4806.1	CCDS4806.1	6p21.31	2011-04-06			2011-04-06			ENSG00000198755	ENSG00000198755	ENSG00000198755	ENSG00000198755		"""L ribosomal proteins"""	"""L ribosomal proteins"""	10299	10299	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615660	615660		NEDD6		NEDD6		7609734, 9647638	7609734, 9647638	Standard	Standard	NM_007104	NM_007104		Approved	Csa-19, L10A	uc003okp.1	uc003okp.1	P62906	P62906	OTTHUMG00000014566	OTTHUMG00000014566	ENST00000322203.6:c.326C>T	6.37:g.35437971C>T	ENSP00000363018:p.Ala109Val		RPL10A_ENST00000467020.1_3'UTR	p.A109V	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN			5	353	+			109		B2R801|P52859|P53025|Q5TZT6|Q8J013	Missense_Mutation	SNP	ENST00000322203.6	37	c.326C>T	CCDS4806.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584210	0.65992	.	.	ENSG00000198755	ENST00000322203	T	0.37235	1.21	4.6	4.6	0.57074	4.6	4.6	0.57074	Ribosomal protein L1, 3-layer alpha/beta-sandwich (1);Ribosomal protein L1, superfamily (1);	0.056931	0.64402	D	0.000002	T	0.23766	0.0575	L	0.53249	1.67	0.80722	D	1	B	0.23442	0.085	B	0.24701	0.055	T	0.09250	-1.0683	10	0.46703	T	0.11	.	16.1008	0.81169	0.0:1.0:0.0:0.0	.	109	P62906	RL10A_HUMAN	V	109	ENSP00000363018:A109V	ENSP00000363018:A109V	A	+	2	0	0	RPL10A	35545949	35545949	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	7.609000	0.82925	2.124000	0.65301	0.456000	0.33151	GCG		0.498	RPL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040283.1		0.297658	16	16	57	57	NM_007104		3	6.649231	6.649231	33	0.083333	0	0	0	1	0	3	33	0.083333
JAG2	3714	broad.mit.edu	37	14	105618598	105618598	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr14:105618598G>A	ENST00000331782.3	-	6	1222	c.819C>T	c.(817-819)tgC>tgT	p.C273C	RP11-44N21.4_ENST00000548203.1_RNA|JAG2_ENST00000347004.2_Silent_p.C273C	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	273	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CACACTCATCGCAGAACCTCC	0.647																																						ENST00000331782.3											0			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22						c.(817-819)tgC>tgT	jagged 2						53.0	43.0	46.0					14																	105618598		2201	4300	6501	SO:0001819	synonymous_variant	3714			auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	g.chr14:105618598G>A	AF020201	AF020201	CCDS9998.1, CCDS9999.1	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			2008-08-01			ENSG00000184916	ENSG00000184916	ENSG00000184916	ENSG00000184916				6189	6189	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602570	602570						9315665, 10662552	9315665, 10662552	Standard	Standard	NM_002226	NM_002226		Approved		uc001yqg.4	uc001yqg.4	Q9Y219	Q9Y219	OTTHUMG00000140172	OTTHUMG00000140172	ENST00000331782.3:c.819C>T	14.37:g.105618598G>A			RP11-44N21.4_ENST00000548203.1_RNA|JAG2_ENST00000347004.2_Silent_p.C273C	p.C273C	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	6	1222	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	273	EGF-like 1.	Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Silent	SNP	ENST00000331782.3	37	c.819C>T	CCDS9998.1																																																																																									0.647	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2		12.400683	7	7	29	29			4	12.431811	12.431811	3	0.571429	0	0	0	1	0	4	3	0.571429
CSF2RA	1438	broad.mit.edu	37	X	1413315	1413315	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:1413315G>A	ENST00000381524.3	+	8	927	c.741G>A	c.(739-741)tcG>tcA	p.S247S	BX649553.3_ENST00000581137.1_RNA|CSF2RA_ENST00000501036.2_Silent_p.S114S|CSF2RA_ENST00000417535.2_Silent_p.S247S|CSF2RA_ENST00000381509.3_Silent_p.S247S|CSF2RA_ENST00000432318.2_Silent_p.S247S|CSF2RA_ENST00000361536.3_Silent_p.S247S|CSF2RA_ENST00000381529.3_Silent_p.S247S|BX649553.2_ENST00000578699.1_RNA|CSF2RA_ENST00000355805.2_Intron|BX649553.1_ENST00000583047.1_RNA|CSF2RA_ENST00000498153.1_3'UTR|MIR3690_ENST00000580266.1_RNA|BX649553.4_ENST00000580687.1_RNA|CSF2RA_ENST00000355432.3_Silent_p.S247S|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000381500.1_Silent_p.S247S			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	247	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.S247S(1)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	AGAAGCTGTCGTACCTGGACT	0.597																																					Esophageal Squamous(131;723 1707 25334 40494 41806)	ENST00000381524.3											1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)	central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45						c.(739-741)tcG>tcA	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)						283.0	226.0	245.0					X																	1413315		2203	4296	6499	SO:0001819	synonymous_variant	0				extracellular region|integral to plasma membrane	cytokine receptor activity	g.chrX:1413315G>A	M64445	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			2014-09-17			ENSG00000198223	ENSG00000198223	ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	2435	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			306250, 425000	306250, 425000		CSF2R		CSF2R		1702217	1702217	Standard	Standard	NM_006140	NM_006140		Approved	CD116	uc010ncv.2	uc010ncv.2	P15509	P15509	OTTHUMG00000012533	OTTHUMG00000012533	ENST00000381524.3:c.741G>A	X.37:g.1413315G>A			CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000381509.3_Silent_p.S247S|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000381529.3_Silent_p.S247S|CSF2RA_ENST00000355432.3_Silent_p.S247S|CSF2RA_ENST00000501036.2_Silent_p.S114S|CSF2RA_ENST00000381500.1_Silent_p.S247S|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000432318.2_Silent_p.S247S|CSF2RA_ENST00000417535.2_Silent_p.S247S|CSF2RA_ENST00000361536.3_Silent_p.S247S	p.S247S			P15509	CSF2R_HUMAN			8	927	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	247		A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Silent	SNP	ENST00000381524.3	37	c.741G>A	CCDS35191.1																																																																																									0.597	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2		25.760506	-17	-17	69	69			12	32.037317	32.037317	54	0.181818	0	0	0	1	0	12	54	0.181818
LRRN4	164312	broad.mit.edu	37	20	6021826	6021826	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr20:6021826C>T	ENST00000378858.4	-	5	2289	c.2065G>A	c.(2065-2067)Gcc>Acc	p.A689T		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	689					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CCGCTGGCGGCGCACAGCCCA	0.716																																						ENST00000378858.4											0			breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						c.(2065-2067)Gcc>Acc	leucine rich repeat neuronal 4						9.0	10.0	10.0					20																	6021826		2185	4257	6442	SO:0001583	missense	164312				integral to membrane		g.chr20:6021826C>T	AL118505	AL118505	CCDS13097.1	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872	ENSG00000125872	ENSG00000125872		"""Fibronectin type III domain containing"""	"""Fibronectin type III domain containing"""	16208	16208	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""chromosome 20 open reading frame 75"""	C20orf75	"""chromosome 20 open reading frame 75"""	C20orf75		15870286	15870286	Standard	Standard	NM_152611	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	uc002wmo.3	Q8WUT4	Q8WUT4	OTTHUMG00000031825	OTTHUMG00000031825	ENST00000378858.4:c.2065G>A	20.37:g.6021826C>T	ENSP00000368135:p.Ala689Thr			p.A689T	NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN			5	2289	-			689		A8K258|Q5JWV6|Q9H419	Missense_Mutation	SNP	ENST00000378858.4	37	c.2065G>A	CCDS13097.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.060641	0.36373	.	.	ENSG00000125872	ENST00000378858	T	0.59638	0.25	5.54	-0.18	0.13295	5.54	-0.18	0.13295	.	0.584607	0.17286	N	0.179835	T	0.34221	0.0890	L	0.34521	1.04	0.09310	N	1	B	0.29037	0.231	B	0.14023	0.01	T	0.12218	-1.0556	10	0.16896	T	0.51	-10.6341	4.9182	0.13856	0.1315:0.481:0.0:0.3876	.	689	Q8WUT4	LRRN4_HUMAN	T	689	ENSP00000368135:A689T	ENSP00000368135:A689T	A	-	1	0	0	LRRN4	5969826	5969826	0.000000	0.05858	0.032000	0.17829	0.159000	0.22180	-0.197000	0.09518	-0.021000	0.14009	0.655000	0.94253	GCC		0.716	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2		12.963135	5	5	14	14	NM_152611		4	12.902227	12.902227	0	1.000000	0	0	0	1	0	4	0	1.0
CBL	867	broad.mit.edu	37	11	119144698	119144698	+	Silent	SNP	G	G	A	rs146662327		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:119144698G>A	ENST00000264033.4	+	4	1087	c.711G>A	c.(709-711)tcG>tcA	p.S237S		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	237	Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|EF-hand-like.|Sufficient for interaction with EPHB1.				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		ATTATATTTCGGTTTTTGAAT	0.418			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																													ENST00000264033.4		"""Dom, Rec"""	yes		11	11q23.3	867	Cas-Br-M (murine) ecotropic retroviral transforming		L	0			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251						c.(709-711)tcG>tcA	Cbl proto-oncogene, E3 ubiquitin protein ligase	G		1,4397	2.1+/-5.4	0,1,2198	105.0	103.0	104.0		711	-2.8	1.0	11	dbSNP_134	104	0,8590		0,0,4295	no	coding-synonymous	CBL	NM_005188.2		0,1,6493	AA,AG,GG		0.0,0.0227,0.0077		237/907	119144698	1,12987	2199	4295	6494	SO:0001819	synonymous_variant	867	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:119144698G>A	X57110	X57110	CCDS8418.1	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395	ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	"""RING-type (C3HC4) zinc fingers"""	1541	1541	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""oncogene CBL2"""	"""oncogene CBL2"""	165360	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	2013228	Standard	Standard	NM_005188	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	uc001pwe.4	P22681	P22681	OTTHUMG00000166170	OTTHUMG00000166170	ENST00000264033.4:c.711G>A	11.37:g.119144698G>A				p.S237S	NM_005188.3	NP_005179.2	P22681	CBL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)	4	1087	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	237	Cbl-PTB.|EF-hand-like.	A3KMP8	Silent	SNP	ENST00000264033.4	37	c.711G>A	CCDS8418.1																																																																																									0.418	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4		26.330825	-2	-2	84	84	NM_005188		10	28.603337	28.603337	30	0.250000	0	0	0	1	0	10	30	0.25
KCNT1	57582	broad.mit.edu	37	9	138651621	138651621	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:138651621C>T	ENST00000263604.3	+	11	894	c.894C>T	c.(892-894)taC>taT	p.Y298Y	KCNT1_ENST00000490355.2_Silent_p.Y298Y|KCNT1_ENST00000487664.1_Silent_p.Y272Y|KCNT1_ENST00000486577.2_Silent_p.Y278Y|KCNT1_ENST00000488444.2_Silent_p.Y298Y|KCNT1_ENST00000298480.5_Silent_p.Y317Y|KCNT1_ENST00000371757.2_Silent_p.Y317Y|KCNT1_ENST00000491806.2_Silent_p.Y284Y			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	298					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CCGTGGGCTACGGTGACGTCA	0.642																																						ENST00000298480.5											0			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(949-951)taC>taT	potassium channel, subfamily T, member 1						141.0	103.0	116.0					9																	138651621		2202	4300	6502	SO:0001819	synonymous_variant	57582				membrane	binding|calcium-activated potassium channel activity	g.chr9:138651621C>T	AB037843	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			2012-07-05			ENSG00000107147	ENSG00000107147	ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	18865	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608167	608167						10718198, 16382103	10718198, 16382103	Standard	Standard	NM_020822	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	uc011mdq.2	Q5JUK3	Q5JUK3	OTTHUMG00000020917	OTTHUMG00000020917	ENST00000263604.3:c.894C>T	9.37:g.138651621C>T			KCNT1_ENST00000371757.2_Silent_p.Y317Y|KCNT1_ENST00000263604.3_Silent_p.Y298Y|KCNT1_ENST00000488444.2_Silent_p.Y298Y|KCNT1_ENST00000486577.2_Silent_p.Y278Y|KCNT1_ENST00000490355.2_Silent_p.Y298Y|KCNT1_ENST00000491806.2_Silent_p.Y284Y|KCNT1_ENST00000487664.1_Silent_p.Y272Y	p.Y317Y			B7ZVY4	B7ZVY4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	11	1025	+		Myeloproliferative disorder(178;0.0821)	317		B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Silent	SNP	ENST00000263604.3	37	c.951C>T																																																																																										0.642	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			58.203150	-9	-9	44	44	NM_020822		19	58.364692	58.364692	14	0.575758	0	0	0	1	0	19	14	0.575758
ARMCX2	9823	broad.mit.edu	37	X	100912019	100912019	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:100912019C>T	ENST00000328766.5	-	5	1009	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K	ARMCX2_ENST00000467416.1_5'Flank|ARMCX2_ENST00000330154.2_Missense_Mutation_p.E186K|ARMCX2_ENST00000356824.4_Missense_Mutation_p.E186K	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	186	Ala-rich.					integral component of membrane (GO:0016021)				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						GCTGCCGCTTCGGTAGGCACC	0.647																																						ENST00000328766.5											0			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						c.(556-558)Gaa>Aaa	armadillo repeat containing, X-linked 2						26.0	25.0	25.0					X																	100912019		2188	4264	6452	SO:0001583	missense	9823				integral to membrane	binding	g.chrX:100912019C>T	AB011084	AB011084	CCDS14490.1	CCDS14490.1	Xq21.33-q22.2	2014-03-21			2014-03-21			ENSG00000184867	ENSG00000184867	ENSG00000184867	ENSG00000184867		"""Armadillo repeat containing"""	"""Armadillo repeat containing"""	16869	16869	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300363	300363						9628581, 11162520, 16221301, 22569362	9628581, 11162520, 16221301, 22569362	Standard	Standard	XM_005278109	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	uc004eif.3	Q7L311	Q7L311	OTTHUMG00000022038	OTTHUMG00000022038	ENST00000328766.5:c.556G>A	X.37:g.100912019C>T	ENSP00000331662:p.Glu186Lys		ARMCX2_ENST00000330154.2_Missense_Mutation_p.E186K|ARMCX2_ENST00000356824.4_Missense_Mutation_p.E186K	p.E186K	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN			5	1009	-			186	Ala-rich.	O60267|Q5H9D9	Missense_Mutation	SNP	ENST00000328766.5	37	c.556G>A	CCDS14490.1	.	.	.	.	.	.	.	.	.	.	C	3.139	-0.176697	0.06380	.	.	ENSG00000184867	ENST00000328766;ENST00000330154;ENST00000356824	T;T;T	0.30448	1.53;1.53;1.53	4.49	-3.09	0.05331	4.49	-3.09	0.05331	.	5.841240	0.00357	N	0.000022	T	0.14830	0.0358	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09335	-1.0679	10	0.07482	T	0.82	-0.0177	1.4606	0.02394	0.1281:0.2008:0.2595:0.4116	.	186	Q7L311	ARMX2_HUMAN	K	186	ENSP00000331662:E186K;ENSP00000328631:E186K;ENSP00000349281:E186K	ENSP00000331662:E186K	E	-	1	0	0	ARMCX2	100798675	100798675	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	0.683000	0.25349	-0.688000	0.05155	0.468000	0.43344	GAA		0.647	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1		54.412367	-6	-6	69	69	NM_014782		19	55.811424	55.811424	38	0.333333	0	0	0	1	0	19	38	0.333333
TNS3	64759	broad.mit.edu	37	7	47333375	47333375	+	Missense_Mutation	SNP	G	G	A	rs375611617		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:47333375G>A	ENST00000398879.1	-	25	4094	c.3728C>T	c.(3727-3729)cCg>cTg	p.P1243L	TNS3_ENST00000311160.9_Missense_Mutation_p.P1243L|TNS3_ENST00000355730.3_Missense_Mutation_p.P1003L			Q68CZ2	TENS3_HUMAN	tensin 3	1243	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)		p.P1243Q(1)		NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CACTCCCTTCGGGGTACACTC	0.458																																						ENST00000398879.1											1	Substitution - Missense(1)	lung(1)	NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						c.(3727-3729)cCg>cTg	tensin 3	G	LEU/PRO	1,3845		0,1,1922	104.0	103.0	103.0		3728	5.1	1.0	7		103	0,8252		0,0,4126	no	missense	TNS3	NM_022748.11	98	0,1,6048	AA,AG,GG		0.0,0.026,0.0083	probably-damaging	1243/1446	47333375	1,12097	1923	4126	6049	SO:0001583	missense	64759				focal adhesion	protein binding	g.chr7:47333375G>A	AF378756	AF378756	CCDS5506.2	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	"""SH2 domain containing"""	21616	21616	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	"""tumor endothelial marker 6"""	606825	606825	"""tensin-like SH2 domain-containing 1"""	TENS1	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	11559528	Standard	Standard	NM_022748	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	uc003tnw.3	Q68CZ2	Q68CZ2	OTTHUMG00000074075	OTTHUMG00000074075	ENST00000398879.1:c.3728C>T	7.37:g.47333375G>A	ENSP00000381854:p.Pro1243Leu		TNS3_ENST00000311160.9_Missense_Mutation_p.P1243L|TNS3_ENST00000355730.3_Missense_Mutation_p.P1003L	p.P1243L			Q68CZ2	TENS3_HUMAN			25	4094	-			1243	SH2.	B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	c.3728C>T	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	G	21.9	4.218665	0.79464	2.6E-4	0.0	ENSG00000136205	ENST00000311160;ENST00000398879;ENST00000355730;ENST00000545849	D;D;D	0.88354	-2.37;-2.37;-2.37	5.05	5.05	0.67936	5.05	5.05	0.67936	SH2 motif (4);	0.396370	0.27572	N	0.018761	D	0.91710	0.7379	M	0.74258	2.255	0.80722	D	1	D	0.55605	0.972	P	0.55055	0.767	D	0.92167	0.5740	10	0.72032	D	0.01	-29.9744	11.3714	0.49702	0.0:0.0:0.8189:0.181	.	1243	Q68CZ2	TENS3_HUMAN	L	1243;1243;1003;699	ENSP00000312143:P1243L;ENSP00000381854:P1243L;ENSP00000347968:P1003L	ENSP00000312143:P1243L	P	-	2	0	0	TNS3	47299900	47299900	1.000000	0.71417	0.957000	0.39632	0.995000	0.86356	3.405000	0.52630	2.500000	0.84329	0.655000	0.94253	CCG		0.458	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1		74.723037	-1	-1	72	72	NM_022748		23	74.762842	74.762842	26	0.469388	0	0	0	1	0	23	26	0.469388
EHD1	10938	broad.mit.edu	37	11	64622812	64622812	+	Silent	SNP	C	C	T	rs144668933		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:64622812C>T	ENST00000320631.3	-	4	1316	c.1062G>A	c.(1060-1062)ccG>ccA	p.P354P	EHD1_ENST00000488711.1_5'Flank|EHD1_ENST00000359393.2_Silent_p.P354P	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	354					blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						TGCGGAGGCTCGGGAAGTCCC	0.577											OREG0004024	type=REGULATORY REGION|Gene=EHD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000320631.3											0			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						c.(1060-1062)ccG>ccA	EH-domain containing 1	C		1,4401	2.1+/-5.4	0,1,2200	78.0	78.0	78.0		1062	-6.6	0.8	11	dbSNP_134	78	3,8591	3.0+/-9.4	0,3,4294	no	coding-synonymous	EHD1	NM_006795.2		0,4,6494	TT,TC,CC		0.0349,0.0227,0.0308		354/535	64622812	4,12992	2201	4297	6498	SO:0001819	synonymous_variant	10938			blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr11:64622812C>T	AF099011	AF099011	CCDS8084.1, CCDS73315.1	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			2013-01-10			ENSG00000110047	ENSG00000110047	ENSG00000110047	ENSG00000110047		"""EF-hand domain containing"""	"""EF-hand domain containing"""	3242	3242	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""testilin"""	"""testilin"""	605888	605888		PAST1		PAST1		10395801, 10673336	10395801, 10673336	Standard	Standard	NM_001282444	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	uc001obu.1	Q9H4M9	Q9H4M9	OTTHUMG00000066832	OTTHUMG00000066832	ENST00000320631.3:c.1062G>A	11.37:g.64622812C>T		1078	EHD1_ENST00000359393.2_Silent_p.P354P	p.P354P	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN			4	1316	-			354		O14611|Q2M3Q4|Q9UNR3	Silent	SNP	ENST00000320631.3	37	c.1062G>A	CCDS8084.1																																																																																									0.577	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143229.2		21.387363	-10	-10	57	57	NM_006795		8	22.699106	22.699106	21	0.275862	0	0	0	1	0	8	21	0.275862
FAM193B	54540	broad.mit.edu	37	5	176958324	176958324	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:176958324C>T	ENST00000329540.5	-	8	2941	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	FAM193B_ENST00000443375.2_Missense_Mutation_p.A379T|FAM193B_ENST00000514747.1_Intron|FAM193B_ENST00000508298.1_Intron			Q96PV7	F193B_HUMAN	family with sequence similarity 193, member B	492						cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)	4						GCGGCCCTGGCGCTGTTGGGG	0.657																																						ENST00000329540.5											0			kidney(1)|large_intestine(3)	4						c.(112-114)Gcc>Acc	family with sequence similarity 193, member B						23.0	26.0	25.0					5																	176958324		1888	4104	5992	SO:0001583	missense	54540						g.chr5:176958324C>T			CCDS54954.1	CCDS54954.1	5q35	2010-02-17			2010-02-17			ENSG00000146067	ENSG00000146067	ENSG00000146067	ENSG00000146067				25524	25524	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615813	615813						11572484	11572484	Standard	Standard	NR_024019	NR_024019		Approved	KIAA1931, FLJ10404	uc003mhu.3	uc003mhu.3	Q96PV7	Q96PV7	OTTHUMG00000163396	OTTHUMG00000163396	ENST00000329540.5:c.112G>A	5.37:g.176958324C>T	ENSP00000332014:p.Ala38Thr		FAM193B_ENST00000443375.2_Missense_Mutation_p.A379T|FAM193B_ENST00000508298.1_Intron|FAM193B_ENST00000514747.1_Intron	p.A38T			Q6IPW0	Q6IPW0_HUMAN			8	2941	-			420		E9PET5|Q9NW00	Missense_Mutation	SNP	ENST00000329540.5	37	c.112G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.3|25.3	4.627044|4.627044	0.87560|0.87560	.|.	.|.	ENSG00000146067|ENSG00000146067	ENST00000443375;ENST00000329540|ENST00000524677	T;T|.	0.52526|.	0.73;0.66|.	5.07|5.07	5.07|5.07	0.68467|0.68467	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	.|.	.|.	.|.	.|.	T|T	0.63581|0.63581	0.2523|0.2523	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999993|0.999993	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.71414|.	0.973;0.936|.	T|T	0.62163|0.62163	-0.6912|-0.6912	8|4	0.18276|.	T|.	0.48|.	-5.0806|-5.0806	11.8957|11.8957	0.52656|0.52656	0.0:0.9198:0.0:0.0802|0.0:0.9198:0.0:0.0802	.|.	38;379|.	E7ER81;E9PEZ8|.	.;.|.	T|H	379;38|97	ENSP00000410098:A379T;ENSP00000332014:A38T|.	ENSP00000332014:A38T|.	A|R	-|-	1|2	0|0	0|0	FAM193B|FAM193B	176890930|176890930	176890930|176890930	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.969000|4.969000	0.63735|0.63735	2.347000|2.347000	0.79759|0.79759	0.563000|0.563000	0.77884|0.77884	GCC|CGC		0.657	FAM193B-201	KNOWN	basic	protein_coding	protein_coding			23.098084	-2	-2	13	13	NM_019057		8	23.110904	23.110904	9	0.470588	0	0	0	1	0	8	9	0.470588
ZFHX3	463	broad.mit.edu	37	16	72993655	72993655	+	Silent	SNP	G	G	A	rs144573608		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:72993655G>A	ENST00000268489.5	-	2	1062	c.390C>T	c.(388-390)gcC>gcT	p.A130A	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	130					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CGATCTCCCCGGCCAGGTTCT	0.706																																						ENST00000268489.5											0			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(388-390)gcC>gcT	zinc finger homeobox 3	G	,	1,4395		0,1,2197	36.0	39.0	38.0		,390	0.4	1.0	16	dbSNP_134	38	1,8599		0,1,4299	no	intron,coding-synonymous	ZFHX3	NM_001164766.1,NM_006885.3	,	0,2,6496	AA,AG,GG		0.0116,0.0227,0.0154	,	,130/3704	72993655	2,12994	2198	4300	6498	SO:0001819	synonymous_variant	463			muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72993655G>A	D10250	D10250	CCDS10908.1, CCDS54035.1	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	777	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			104155	104155	"""AT-binding transcription factor 1"""	ATBF1	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	1719379, 7592926	Standard	Standard	NM_006885	NM_006885		Approved	ZNF927	uc002fck.3	uc002fck.3	Q15911	Q15911	OTTHUMG00000137599	OTTHUMG00000137599	ENST00000268489.5:c.390C>T	16.37:g.72993655G>A			ZFHX3_ENST00000397992.5_Intron	p.A130A	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			2	1062	-		Ovarian(137;0.13)	130		D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.390C>T	CCDS10908.1																																																																																									0.706	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1		46.620712	12	12	76	76	NM_006885		15	46.723178	46.723178	19	0.441176	0	0	0	1	0	15	19	0.441176
IGSF9B	22997	broad.mit.edu	37	11	133806051	133806051	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:133806051C>T	ENST00000321016.8	-	6	948	c.718G>A	c.(718-720)Gtc>Atc	p.V240I	IGSF9B_ENST00000533871.2_Missense_Mutation_p.V240I			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	240	Ig-like 3.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GAGATGTTGACGGTGATGTTC	0.617																																						ENST00000321016.8											0			breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(718-720)Gtc>Atc	immunoglobulin superfamily, member 9B						58.0	63.0	62.0					11																	133806051		2110	4220	6330	SO:0001583	missense	22997				integral to membrane|plasma membrane		g.chr11:133806051C>T	AK097578	AK097578	CCDS61010.1	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20	2013-02-11	2005-10-12	2005-11-20						"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	32326	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613773	613773								Standard	Standard	NM_001277285	NM_001277285		Approved	KIAA1030	uc031qfh.1	uc031qfh.1	Q9UPX0	Q9UPX0			ENST00000321016.8:c.718G>A	11.37:g.133806051C>T	ENSP00000317980:p.Val240Ile		IGSF9B_ENST00000533871.2_Missense_Mutation_p.V240I	p.V240I			Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	6	948	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	240	Ig-like 3.	G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.718G>A		.	.	.	.	.	.	.	.	.	.	C	21.7	4.189872	0.78789	.	.	ENSG00000080854	ENST00000321016;ENST00000533871;ENST00000527648	T;T;T	0.70282	-0.47;-0.47;-0.47	5.03	5.03	0.67393	5.03	5.03	0.67393	Immunoglobulin I-set (1);Fibronectin, type III (2);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66177	0.2763	L	0.43923	1.385	0.51482	D	0.999925	B	0.22276	0.067	B	0.26202	0.067	T	0.61501	-0.7050	9	0.29301	T	0.29	.	18.3684	0.90399	0.0:1.0:0.0:0.0	.	240	Q9UPX0	TUTLB_HUMAN	I	240;82;240	ENSP00000317980:V240I;ENSP00000436552:V82I;ENSP00000436576:V240I	ENSP00000317980:V240I	V	-	1	0	0	IGSF9B	133311261	133311261	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.346000	0.79739	0.561000	0.74099	GTC		0.617	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			11.062822	-15	-15	11	11	XM_290502		5	12.38066	12.380660	16	0.238095	0	0	0	1	0	5	16	0.238095
COG2	22796	broad.mit.edu	37	1	230819334	230819334	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:230819334C>T	ENST00000366669.4	+	11	1296	c.1181C>T	c.(1180-1182)gCg>gTg	p.A394V	COG2_ENST00000534989.1_Missense_Mutation_p.A335V|COG2_ENST00000546013.1_Missense_Mutation_p.A83V|COG2_ENST00000366668.3_Missense_Mutation_p.A394V|COG2_ENST00000535166.1_Missense_Mutation_p.A278V	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	394					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				AGAGAAATAGCGGGATCCTTA	0.388																																						ENST00000534989.1											0			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27						c.(1003-1005)gCg>gTg	component of oligomeric golgi complex 2						147.0	145.0	146.0					1																	230819334		2203	4300	6503	SO:0001583	missense	22796			Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity	g.chr1:230819334C>T	Z34975	Z34975	CCDS1584.1, CCDS44329.1	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775	ENSG00000135775	ENSG00000135775		"""Components of oligomeric golgi complex"""	"""Components of oligomeric golgi complex"""	6546	6546	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606974	606974	"""low density lipoprotein receptor defect C complementing"""	LDLC	"""low density lipoprotein receptor defect C complementing"""	LDLC		7962052	7962052	Standard	Standard	NM_007357	NM_007357		Approved		uc001htw.3	uc001htw.3	Q14746	Q14746	OTTHUMG00000037753	OTTHUMG00000037753	ENST00000366669.4:c.1181C>T	1.37:g.230819334C>T	ENSP00000355629:p.Ala394Val		COG2_ENST00000535166.1_Missense_Mutation_p.A278V|COG2_ENST00000546013.1_Missense_Mutation_p.A83V|COG2_ENST00000366668.3_Missense_Mutation_p.A394V|COG2_ENST00000366669.4_Missense_Mutation_p.A394V	p.A335V			Q14746	COG2_HUMAN			11	1339	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	394		Q86U99	Missense_Mutation	SNP	ENST00000366669.4	37	c.1004C>T	CCDS1584.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.718312	0.89205	.	.	ENSG00000135775	ENST00000366669;ENST00000535166;ENST00000366668;ENST00000534989;ENST00000546013	T;T;T;T;T	0.54071	3.51;3.51;3.51;3.51;0.59	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.047537	0.85682	D	0.000000	T	0.70263	0.3204	M	0.66939	2.045	0.80722	D	1	D;D	0.76494	0.999;0.999	P;D	0.65140	0.859;0.932	T	0.65965	-0.6040	10	0.33141	T	0.24	-19.3267	19.8057	0.96531	0.0:1.0:0.0:0.0	.	394;394	Q86U99;Q14746	.;COG2_HUMAN	V	394;278;394;335;83	ENSP00000355629:A394V;ENSP00000445724:A278V;ENSP00000355628:A394V;ENSP00000440349:A335V;ENSP00000442147:A83V	ENSP00000355628:A394V	A	+	2	0	0	COG2	228885957	228885957	0.999000	0.42202	0.964000	0.40570	0.749000	0.42624	4.412000	0.59787	2.682000	0.91365	0.655000	0.94253	GCG		0.388	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092087.1		77.535707	3	3	88	88	NM_007357		26	77.769	77.769000	34	0.433333	0	0	0	1	0	26	34	0.433333
KL	9365	broad.mit.edu	37	13	33638014	33638014	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr13:33638014C>T	ENST00000380099.3	+	5	2738	c.2730C>T	c.(2728-2730)tgC>tgT	p.C910C	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	910	Glycosyl hydrolase-1 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TCAATCTTTGCGGATACTTTG	0.403																																						ENST00000380099.3											0			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41						c.(2728-2730)tgC>tgT	klotho						171.0	178.0	176.0					13																	33638014		2203	4300	6503	SO:0001819	synonymous_variant	9365			aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33638014C>T	AB005142	AB005142	CCDS9347.1	CCDS9347.1	13q12	2008-02-05			2008-02-05			ENSG00000133116	ENSG00000133116	ENSG00000133116	ENSG00000133116				6344	6344	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604824	604824						9464267	9464267	Standard	Standard	NM_004795	NM_004795		Approved		uc001uus.3	uc001uus.3	Q9UEF7	Q9UEF7	OTTHUMG00000017408	OTTHUMG00000017408	ENST00000380099.3:c.2730C>T	13.37:g.33638014C>T			KL_ENST00000487852.1_3'UTR	p.C910C	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	5	2738	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	910	Glycosyl hydrolase-1 2.	Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Silent	SNP	ENST00000380099.3	37	c.2730C>T	CCDS9347.1																																																																																									0.403	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1		77.890673	0	0	194	194			30	85.420054	85.420054	94	0.241935	0	0	0	1	0	30	94	0.241935
HSD11B1L	374875	broad.mit.edu	37	19	5687649	5687649	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:5687649G>A	ENST00000423665.2	+	7	888	c.638G>A	c.(637-639)cGa>cAa	p.R213Q	RPL36_ENST00000394580.2_5'Flank|HSD11B1L_ENST00000581773.1_Missense_Mutation_p.R213Q|RPL36_ENST00000577222.1_Intron|HSD11B1L_ENST00000581521.1_Missense_Mutation_p.R213Q|HSD11B1L_ENST00000411793.2_Missense_Mutation_p.R79Q|RPL36_ENST00000579446.1_5'Flank|HSD11B1L_ENST00000581893.1_Missense_Mutation_p.R79Q|HSD11B1L_ENST00000301382.4_Missense_Mutation_p.R132Q|HSD11B1L_ENST00000339423.2_Missense_Mutation_p.R213Q|HSD11B1L_ENST00000577917.1_Missense_Mutation_p.R132Q|HSD11B1L_ENST00000342970.2_Missense_Mutation_p.R126Q|RPL36_ENST00000582380.2_Intron|RPL36_ENST00000347512.3_5'Flank|HSD11B1L_ENST00000583928.1_Missense_Mutation_p.R79Q|RPL36_ENST00000579649.1_Intron	NM_198533.2	NP_940935.1	Q7Z5J1	DHI1L_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1-like	213						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)										CTGGGCCTCCGAGATCGCGCC	0.721																																						ENST00000581521.1											0										c.(637-639)cGa>cAa	hydroxysteroid (11-beta) dehydrogenase 1-like						17.0	19.0	18.0					19																	5687649		2198	4293	6491	SO:0001583	missense	374875				extracellular region	binding|oxidoreductase activity	g.chr19:5687649G>A	AY268353	AY268353	CCDS12144.1, CCDS12145.1, CCDS12146.1, CCDS45931.1, CCDS45932.1, CCDS58641.1, CCDS58642.1, CCDS74266.1	CCDS12144.1, CCDS12145.1, CCDS12146.1, CCDS45931.1, CCDS45932.1, CCDS58641.1, CCDS58642.1, CCDS74266.1	19p13.3	2011-09-20			2011-09-20				ENSG00000167733		ENSG00000167733	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	30419	30419	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase 10"", ""short chain dehydrogenase/reductase family 26C, member 2"""	"""short chain dehydrogenase/reductase 10"", ""short chain dehydrogenase/reductase family 26C, member 2"""								12477932	12477932	Standard	Standard	NM_001267868	NM_001267868		Approved	SCDR10, SDR26C2	uc010dug.4	uc010dug.4	Q7Z5J1	Q7Z5J1			ENST00000423665.2:c.638G>A	19.37:g.5687649G>A	ENSP00000407154:p.Arg213Gln		HSD11B1L_ENST00000339423.2_Missense_Mutation_p.R213Q|HSD11B1L_ENST00000301382.4_Missense_Mutation_p.R132Q|RPL36_ENST00000582380.2_Intron|RPL36_ENST00000579649.1_Intron|HSD11B1L_ENST00000577917.1_Missense_Mutation_p.R132Q|HSD11B1L_ENST00000411793.2_Missense_Mutation_p.R79Q|HSD11B1L_ENST00000581773.1_Missense_Mutation_p.R213Q|RPL36_ENST00000577222.1_Intron|HSD11B1L_ENST00000581893.1_Missense_Mutation_p.R79Q|HSD11B1L_ENST00000423665.2_Missense_Mutation_p.R213Q|HSD11B1L_ENST00000583928.1_Missense_Mutation_p.R79Q|HSD11B1L_ENST00000342970.2_Missense_Mutation_p.R126Q	p.R213Q			Q7Z5J1	DHI1L_HUMAN			9	1113	+			213		Q05D45|Q52LF4|Q7Z5I9|Q7Z5J0|Q7Z5P5|Q7Z5P6|Q7Z5P7|Q7Z5P8	Missense_Mutation	SNP	ENST00000423665.2	37	c.638G>A	CCDS45931.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.474145	0.26423	.	.	ENSG00000167733	ENST00000411793;ENST00000301382;ENST00000423665;ENST00000342970;ENST00000339423	D;T;T;T;T	0.82255	-1.59;0.73;0.73;0.73;0.73	2.78	0.379	0.16213	2.78	0.379	0.16213	.	0.098975	0.42053	U	0.000762	T	0.61540	0.2355	L	0.27053	0.805	0.09310	N	1	B;B;P;B;B;P	0.38745	0.236;0.04;0.645;0.04;0.04;0.513	B;B;B;B;B;B	0.23150	0.036;0.003;0.044;0.01;0.005;0.019	T	0.58188	-0.7680	10	0.87932	D	0	.	3.5427	0.07818	0.2496:0.0:0.5084:0.242	.	126;79;132;213;132;213	Q7Z5J1-5;Q7Z5J1-7;Q7Z5J1-6;Q7Z5J1-2;Q7Z5J1-3;Q7Z5J1	.;.;.;.;.;DHI1L_HUMAN	Q	79;132;213;126;213	ENSP00000398955:R79Q;ENSP00000301382:R132Q;ENSP00000407154:R213Q;ENSP00000343451:R126Q;ENSP00000340436:R213Q	ENSP00000301382:R132Q	R	+	2	0	0	HSD11B1L	5638649	5638649	0.809000	0.29036	0.456000	0.27044	0.543000	0.35085	0.464000	0.21988	0.033000	0.15463	-0.266000	0.10368	CGA		0.721	HSD11B1L-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000442573.1		8.421932	-3	-3	7	7	NM_198706		3	8.643371	8.643371	6	0.333333	0	0	0	1	0	3	6	0.333333
GALNT2	2590	broad.mit.edu	37	1	230371780	230371780	+	Missense_Mutation	SNP	G	G	A	rs151140953		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:230371780G>A	ENST00000366672.4	+	4	467	c.395G>A	c.(394-396)cGg>cAg	p.R132Q	GALNT2_ENST00000543760.1_Missense_Mutation_p.R94Q|GALNT2_ENST00000541865.1_Missense_Mutation_p.R42Q	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	132					cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				AAGCAGTGGCGGGTGGATCTG	0.577																																						ENST00000366672.4											0			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32						c.(394-396)cGg>cAg	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	43.0	41.0	42.0		395	5.2	1.0	1	dbSNP_134	42	0,8600		0,0,4300	no	missense	GALNT2	NM_004481.3	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	132/572	230371780	1,13005	2203	4300	6503	SO:0001583	missense	2590			immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr1:230371780G>A	BC041120	BC041120	CCDS1582.1	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	ENSG00000143641	ENSG00000143641	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	"""Glycosyltransferase family 2 domain containing"""	4124	4124	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 2"""	"""polypeptide GalNAc transferase 2"""	602274	602274	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"""		"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"""			9592121, 7592619	9592121, 7592619	Standard	Standard	NM_004481	NM_004481		Approved	GalNAc-T2	uc010pwa.1	uc010pwa.1	Q10471	Q10471	OTTHUMG00000037771	OTTHUMG00000037771	ENST00000366672.4:c.395G>A	1.37:g.230371780G>A	ENSP00000355632:p.Arg132Gln		GALNT2_ENST00000541865.1_Missense_Mutation_p.R42Q|GALNT2_ENST00000543760.1_Missense_Mutation_p.R94Q	p.R132Q	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN			4	467	+	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)	132		A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Missense_Mutation	SNP	ENST00000366672.4	37	c.395G>A	CCDS1582.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.442195	0.43326	2.27E-4	0.0	ENSG00000143641	ENST00000543760;ENST00000366672;ENST00000541865	T;T;T	0.59083	0.29;0.29;0.29	5.18	5.18	0.71444	5.18	5.18	0.71444	.	0.598474	0.18343	N	0.144121	T	0.47154	0.1430	L	0.39020	1.185	0.53005	D	0.999966	B;B	0.23650	0.053;0.089	B;B	0.08055	0.002;0.003	T	0.39502	-0.9611	10	0.13108	T	0.6	.	17.4619	0.87622	0.0:0.0:1.0:0.0	.	132;94	Q10471;G3V1S6	GALT2_HUMAN;.	Q	94;132;42	ENSP00000445017:R94Q;ENSP00000355632:R132Q;ENSP00000444346:R42Q	ENSP00000355632:R132Q	R	+	2	0	0	GALNT2	228438403	228438403	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	5.387000	0.66243	2.415000	0.81967	0.563000	0.77884	CGG		0.577	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1		19.916762	7	7	42	42	NM_004481		7	20.848872	20.848872	17	0.291667	0	0	0	1	0	7	17	0.291667
RNPEPL1	57140	broad.mit.edu	37	2	241513964	241513964	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:241513964C>T	ENST00000270357.4	+	6	1107	c.514C>T	c.(514-516)Cgc>Tgc	p.R172C		NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1	172					leukotriene biosynthetic process (GO:0019370)		aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		GACTGCCTTCCGCCTGGACGC	0.647																																						ENST00000270357.4											0			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13						c.(514-516)Cgc>Tgc	arginyl aminopeptidase (aminopeptidase B)-like 1						40.0	38.0	38.0					2																	241513964		2201	4300	6501	SO:0001583	missense	57140			leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr2:241513964C>T					2q37.3	2012-03-06			2012-03-06			ENSG00000142327	ENSG00000142327	ENSG00000142327	ENSG00000142327				10079	10079	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605287	605287						19508204	19508204	Standard	Standard	NM_018226	NM_018226		Approved		uc002vzi.4	uc002vzi.4	Q9HAU8	Q9HAU8	OTTHUMG00000133357	OTTHUMG00000133357	ENST00000270357.4:c.514C>T	2.37:g.241513964C>T	ENSP00000270357:p.Arg172Cys			p.R172C	NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)	6	1107	+		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)			Q5XKC3|Q6NX56|Q96AC9|Q9H033|Q9NVD0	Missense_Mutation	SNP	ENST00000270357.4	37	c.514C>T		.	.	.	.	.	.	.	.	.	.	C	21.8	4.197781	0.79015	.	.	ENSG00000142327	ENST00000270357	T	0.02606	4.23	4.64	3.73	0.42828	4.64	3.73	0.42828	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.058902	0.64402	D	0.000001	T	0.11623	0.0283	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.972;0.985	T	0.00573	-1.1664	10	0.72032	D	0.01	-16.6565	12.4432	0.55637	0.0:0.8288:0.1711:0.0	.	78;172	A4FTX9;Q9HAU8	.;RNPL1_HUMAN	C	172	ENSP00000270357:R172C	ENSP00000270357:R172C	R	+	1	0	0	RNPEPL1	241162637	241162637	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.310000	0.59141	1.013000	0.39391	0.591000	0.81541	CGC		0.647	RNPEPL1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257190.4		30.879059	-5	-5	17	17	NM_018226		9	31.130815	31.130815	5	0.642857	0	0	0	1	0	9	5	0.642857
SEC16A	9919	broad.mit.edu	37	9	139371003	139371003	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:139371003G>A	ENST00000371706.3	-	1	564	c.531C>T	c.(529-531)gcC>gcT	p.A177A	SEC16A_ENST00000431893.2_Silent_p.A177A|SEC16A_ENST00000290037.6_Silent_p.A177A|SEC16A_ENST00000313050.7_Silent_p.A355A			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	177					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		AGCCAGACCCGGCCCCAGCCC	0.602																																						ENST00000313050.7											0			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1063-1065)gcC>gcT	SEC16 homolog A (S. cerevisiae)						15.0	17.0	17.0					9																	139371003		1845	4089	5934	SO:0001819	synonymous_variant	9919			protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139371003G>A	AK074565	AK074565	CCDS55351.1, CCDS75936.1	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396	ENSG00000148396	ENSG00000148396				29006	29006	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612854	612854	"""KIAA0310"""	KIAA0310	"""KIAA0310"""	KIAA0310		9205841	9205841	Standard	Standard	NM_014866	NM_014866		Approved	p250	uc004chx.3	uc004chx.3	O15027	O15027	OTTHUMG00000020932	OTTHUMG00000020932	ENST00000371706.3:c.531C>T	9.37:g.139371003G>A			SEC16A_ENST00000431893.2_Silent_p.A177A|SEC16A_ENST00000290037.6_Silent_p.A177A|SEC16A_ENST00000371706.3_Silent_p.A177A	p.A355A	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	1	1138	-		Myeloproliferative disorder(178;0.0511)	177		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Silent	SNP	ENST00000371706.3	37	c.1065C>T																																																																																										0.602	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1		19.319572	-11	-11	23	23	XM_088459		7	19.716319	19.716319	13	0.350000	0	0	0	1	0	7	13	0.35
GAPT	202309	broad.mit.edu	37	5	57790685	57790685	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:57790685G>A	ENST00000396776.2	+	3	784	c.322G>A	c.(322-324)Gat>Aat	p.D108N	GAPT_ENST00000318469.2_Missense_Mutation_p.D108N	NM_152687.2	NP_689900.1	Q8N292	GAPT_HUMAN	GRB2-binding adaptor protein, transmembrane	108					B cell activation (GO:0042113)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						AGGAAAAACCGATAAGGAACT	0.418																																						ENST00000396776.2											0			NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						c.(322-324)Gat>Aat	GRB2-binding adaptor protein, transmembrane						77.0	79.0	78.0					5																	57790685		2203	4300	6503	SO:0001583	missense	202309			B cell activation	integral to membrane|plasma membrane		g.chr5:57790685G>A	AK090960	AK090960	CCDS3975.1	CCDS3975.1	5q11.2	2011-11-01	2008-10-07	2008-10-07	2011-11-01	2008-10-07	2008-10-07	ENSG00000175857	ENSG00000175857	ENSG00000175857	ENSG00000175857				26588	26588	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""GRB2-binding transmembrane adaptor"""	"""GRB2-binding transmembrane adaptor"""			"""chromosome 5 open reading frame 29"""	C5orf29	"""chromosome 5 open reading frame 29"""	C5orf29				Standard	Standard	NM_152687	NM_152687		Approved	FLJ33641	uc003jro.1	uc003jro.1	Q8N292	Q8N292	OTTHUMG00000131219	OTTHUMG00000131219	ENST00000396776.2:c.322G>A	5.37:g.57790685G>A	ENSP00000379997:p.Asp108Asn		GAPT_ENST00000318469.2_Missense_Mutation_p.D108N	p.D108N	NM_152687.2	NP_689900.1	Q8N292	GAPT_HUMAN			3	784	+			108			Missense_Mutation	SNP	ENST00000396776.2	37	c.322G>A	CCDS3975.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.494661	0.26774	.	.	ENSG00000175857	ENST00000396776;ENST00000318469	T;T	0.51071	0.72;0.72	5.05	1.33	0.21861	5.05	1.33	0.21861	.	1.755270	0.02719	N	0.113789	T	0.33206	0.0855	N	0.14661	0.345	0.09310	N	1	B	0.25206	0.12	B	0.21151	0.033	T	0.31308	-0.9948	10	0.66056	D	0.02	0.0312	7.1449	0.25577	0.3584:0.0:0.6416:0.0	.	108	Q8N292	GAPT_HUMAN	N	108	ENSP00000379997:D108N;ENSP00000323075:D108N	ENSP00000323075:D108N	D	+	1	0	0	GAPT	57826442	57826442	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	0.112000	0.15479	0.125000	0.18397	0.655000	0.94253	GAT		0.418	GAPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253963.1		-4.520047	-25	-25	58	58	NM_152687		3	6.702063	6.702063	51	0.055556	0	0	0	1	0	3	51	0.055556
ADCY5	111	broad.mit.edu	37	3	123049783	123049783	+	Silent	SNP	G	G	A	rs552930549	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr3:123049783G>A	ENST00000462833.1	-	5	2811	c.1599C>T	c.(1597-1599)caC>caT	p.H533H	ADCY5_ENST00000309879.5_Silent_p.H183H|ADCY5_ENST00000491190.1_Silent_p.H166H	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	533	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		AGCAGTGGGCGTGGTCAGCCC	0.542													G|||	3	0.000599042	0.0008	0.0014	5008	,	,		18200	0.0		0.001	False		,,,				2504	0.0					ENST00000462833.1											0			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(1597-1599)caC>caT	adenylate cyclase 5						85.0	71.0	76.0					3																	123049783		2203	4300	6503	SO:0001819	synonymous_variant	111			activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123049783G>A	U65473	U65473	CCDS3022.1, CCDS56274.1	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			2013-02-04			ENSG00000173175	ENSG00000173175	ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	"""Adenylate cyclases"""	236	236	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600293	600293						10481931	10481931	Standard	Standard	NM_183357	NM_183357		Approved	AC5	uc003egh.2	uc003egh.2	O95622	O95622	OTTHUMG00000159517	OTTHUMG00000159517	ENST00000462833.1:c.1599C>T	3.37:g.123049783G>A			ADCY5_ENST00000491190.1_Silent_p.H166H|ADCY5_ENST00000309879.5_Silent_p.H183H	p.H533H	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	5	2811	-			533	Guanylate cyclase 1.	B7Z8A6|Q7RTV7|Q8NFM3	Silent	SNP	ENST00000462833.1	37	c.1599C>T	CCDS3022.1																																																																																									0.542	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4		47.152089	-7	-7	22	22	XM_171048		14	49.279047	49.279047	1	0.933333	0	0	0	1	0	14	1	0.933333
CDC20B	166979	broad.mit.edu	37	5	54420729	54420729	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:54420729C>T	ENST00000381375.2	-	9	1262	c.1117G>A	c.(1117-1119)Ggc>Agc	p.G373S	CDC20B_ENST00000334206.5_3'UTR|CDC20B_ENST00000322374.6_Missense_Mutation_p.G373S|CDC20B_ENST00000296733.1_Missense_Mutation_p.G373S			Q86Y33	CD20B_HUMAN	cell division cycle 20B	373										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			TCACTGCAGCCGCTGGAAAGC	0.567																																						ENST00000296733.1											0			kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19						c.(1117-1119)Ggc>Agc	cell division cycle 20B						113.0	100.0	104.0					5																	54420729		2203	4300	6503	SO:0001583	missense	166979						g.chr5:54420729C>T	AB086378	AB086378	CCDS3966.1, CCDS47207.1, CCDS54852.1	CCDS3966.1, CCDS47207.1, CCDS54852.1	5q11.2	2013-01-17	2013-01-17		2013-01-17	2013-01-17		ENSG00000164287	ENSG00000164287	ENSG00000164287	ENSG00000164287		"""WD repeat domain containing"""	"""WD repeat domain containing"""	24222	24222	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""CDC20 cell division cycle 20 homolog B (S. cerevisiae)"", ""cell division cycle 20 homolog B (S. cerevisiae)"""		"""CDC20 cell division cycle 20 homolog B (S. cerevisiae)"", ""cell division cycle 20 homolog B (S. cerevisiae)"""					Standard	Standard	NM_152623	NM_152623		Approved	FLJ37927	uc003jpo.2	uc003jpo.2	Q86Y33	Q86Y33	OTTHUMG00000131185	OTTHUMG00000131185	ENST00000381375.2:c.1117G>A	5.37:g.54420729C>T	ENSP00000370781:p.Gly373Ser		CDC20B_ENST00000381375.2_Missense_Mutation_p.G373S|CDC20B_ENST00000322374.6_Missense_Mutation_p.G373S|CDC20B_ENST00000334206.5_3'UTR	p.G373S	NM_001170402.1|NM_152623.2	NP_001163873.1|NP_689836.2	Q86Y33	CD20B_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.225)		9	1291	-		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	373		B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56	Missense_Mutation	SNP	ENST00000381375.2	37	c.1117G>A	CCDS54852.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.886946	0.91814	.	.	ENSG00000164287	ENST00000296733;ENST00000381375;ENST00000322374	T;T;T	0.69806	-0.43;-0.43;-0.43	4.66	4.66	0.58398	4.66	4.66	0.58398	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.43260	D	0.000589	T	0.80706	0.4674	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.83243	-0.0057	10	0.87932	D	0	-27.0194	17.3439	0.87305	0.0:1.0:0.0:0.0	.	373;373;373	Q86Y33-3;Q86Y33;Q86Y33-2	.;CD20B_HUMAN;.	S	373	ENSP00000296733:G373S;ENSP00000370781:G373S;ENSP00000315720:G373S	ENSP00000296733:G373S	G	-	1	0	0	CDC20B	54456486	54456486	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	3.443000	0.52907	2.402000	0.81655	0.650000	0.86243	GGC		0.567	CDC20B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369715.1		11.824914	-15	-15	88	88	NM_152623		9	22.20259	22.202590	65	0.121622	0	0	0	1	0	9	65	0.121622
ALDH1A3	220	broad.mit.edu	37	15	101440860	101440860	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr15:101440860G>A	ENST00000329841.5	+	9	1496	c.964G>A	c.(964-966)Gtg>Atg	p.V322M	ALDH1A3_ENST00000346623.6_Missense_Mutation_p.V215M|RP11-66B24.4_ENST00000560351.1_RNA	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	322					embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		Vitamin A(DB00162)	CAGGGTGTTCGTGGAGGAGCA	0.607																																						ENST00000329841.5											0			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27						c.(964-966)Gtg>Atg	aldehyde dehydrogenase 1 family, member A3						63.0	56.0	59.0					15																	101440860		2203	4300	6503	SO:0001583	missense	220			retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity	g.chr15:101440860G>A	U07919	U07919	CCDS10389.1	CCDS10389.1	15q26	2010-05-07			2010-05-07			ENSG00000184254	ENSG00000184254	ENSG00000184254	ENSG00000184254	1.2.1.5	"""Aldehyde dehydrogenases"""	"""Aldehyde dehydrogenases"""	409	409	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 3"""	"""retinaldehyde dehydrogenase 3"""	600463	600463		ALDH6		ALDH6		7698756	7698756	Standard	Standard	XR_111558	XR_111558		Approved	RALDH3	uc002bwn.4	uc002bwn.4	P47895	P47895	OTTHUMG00000149870	OTTHUMG00000149870	ENST00000329841.5:c.964G>A	15.37:g.101440860G>A	ENSP00000332256:p.Val322Met		ALDH1A3_ENST00000346623.6_Missense_Mutation_p.V215M|RP11-66B24.4_ENST00000560351.1_RNA	p.V322M	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		9	1496	+	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		322		Q6NT64	Missense_Mutation	SNP	ENST00000329841.5	37	c.964G>A	CCDS10389.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.764979	0.69878	.	.	ENSG00000184254	ENST00000329841;ENST00000346623	D	0.86030	-2.06	5.7	5.7	0.88788	5.7	5.7	0.88788	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.96414	0.8830	H	0.99391	4.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98041	1.0382	10	0.87932	D	0	.	19.8405	0.96681	0.0:0.0:1.0:0.0	.	226;322	Q7Z3A2;P47895	.;AL1A3_HUMAN	M	322;226	ENSP00000332256:V322M	ENSP00000332256:V322M	V	+	1	0	0	ALDH1A3	99258383	99258383	1.000000	0.71417	1.000000	0.80357	0.091000	0.18340	9.338000	0.96553	2.671000	0.90904	0.655000	0.94253	GTG		0.607	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313620.2		12.967092	11	11	30	30			5	13.930535	13.930535	14	0.263158	0	0	0	1	0	5	14	0.263158
CPNE6	9362	broad.mit.edu	37	14	24543954	24543954	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr14:24543954C>T	ENST00000397016.2	+	8	933	c.622C>T	c.(622-624)Cgc>Tgc	p.R208C	CPNE6_ENST00000537691.1_Missense_Mutation_p.R263C|CPNE6_ENST00000216775.2_Missense_Mutation_p.R208C	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)	208	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		GGAGCCGTTCCGCCTGTCCCT	0.557																																						ENST00000397016.2											0			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22						c.(622-624)Cgc>Tgc	copine VI (neuronal)						83.0	78.0	80.0					14																	24543954		2203	4300	6503	SO:0001583	missense	9362			lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity	g.chr14:24543954C>T	AB009288	AB009288	CCDS9607.1, CCDS61413.1	CCDS9607.1, CCDS61413.1	14q11.2	2008-07-09			2008-07-09			ENSG00000100884	ENSG00000100884	ENSG00000100884	ENSG00000100884				2319	2319	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605688	605688						9645480	9645480	Standard	Standard	NM_001280558	NM_001280558		Approved		uc001wll.3	uc001wll.3	O95741	O95741	OTTHUMG00000028781	OTTHUMG00000028781	ENST00000397016.2:c.622C>T	14.37:g.24543954C>T	ENSP00000380211:p.Arg208Cys		CPNE6_ENST00000537691.1_Missense_Mutation_p.R263C|CPNE6_ENST00000216775.2_Missense_Mutation_p.R208C	p.R208C	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	8	933	+			208	C2 2.	B2RAG6|B7Z1M3|D3DS55|F5GXN1|Q53HA6|Q8WVG1	Missense_Mutation	SNP	ENST00000397016.2	37	c.622C>T	CCDS9607.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.896233	0.72639	.	.	ENSG00000100884	ENST00000537691;ENST00000397016;ENST00000216775	T;T;T	0.70045	-0.45;-0.45;-0.45	4.89	4.89	0.63831	4.89	4.89	0.63831	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.56097	D	0.000025	T	0.69548	0.3123	L	0.28556	0.865	0.49483	D	0.999795	D;D	0.89917	1.0;0.998	P;D	0.65443	0.894;0.935	T	0.72127	-0.4384	10	0.72032	D	0.01	-27.0527	11.0714	0.48006	0.1854:0.8146:0.0:0.0	.	263;208	F5GXN1;O95741	.;CPNE6_HUMAN	C	263;208;208	ENSP00000440077:R263C;ENSP00000380211:R208C;ENSP00000216775:R208C	ENSP00000216775:R208C	R	+	1	0	0	CPNE6	23613794	23613794	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	3.351000	0.52232	2.435000	0.82474	0.313000	0.20887	CGC		0.557	CPNE6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071869.5		11.697111	2	2	22	22			4	11.877031	11.877031	7	0.363636	0	0	0	1	0	4	7	0.363636
PPL	5493	broad.mit.edu	37	16	4949058	4949058	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:4949058C>T	ENST00000345988.2	-	8	921	c.832G>A	c.(832-834)Gac>Aac	p.D278N	PPL_ENST00000590782.2_Missense_Mutation_p.D276N	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	278					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						AGCAGCTGGTCGCCCTCGCTG	0.632																																						ENST00000345988.2											0			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(832-834)Gac>Aac	periplakin						76.0	83.0	81.0					16																	4949058		2197	4300	6497	SO:0001583	missense	5493			keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4949058C>T	AF013717	AF013717	CCDS10526.1	CCDS10526.1	16p13.3	2008-02-05			2008-02-05			ENSG00000118898	ENSG00000118898	ENSG00000118898	ENSG00000118898				9273	9273	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602871	602871						9570964, 9521878	9570964, 9521878	Standard	Standard	NM_002705	NM_002705		Approved		uc002cyd.1	uc002cyd.1	O60437	O60437	OTTHUMG00000129528	OTTHUMG00000129528	ENST00000345988.2:c.832G>A	16.37:g.4949058C>T	ENSP00000340510:p.Asp278Asn		PPL_ENST00000590782.2_Missense_Mutation_p.D276N	p.D278N	NM_002705.4	NP_002696	O60437	PEPL_HUMAN			8	921	-			278		O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	c.832G>A	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.859704	0.71834	.	.	ENSG00000118898	ENST00000345988	T	0.35048	1.33	5.04	4.09	0.47781	5.04	4.09	0.47781	.	0.183662	0.47093	D	0.000242	T	0.34048	0.0884	M	0.64170	1.965	0.46954	D	0.999262	B	0.26041	0.14	B	0.15484	0.013	T	0.19095	-1.0316	10	0.59425	D	0.04	.	10.6588	0.45690	0.0:0.8456:0.0:0.1544	.	278	O60437	PEPL_HUMAN	N	278	ENSP00000340510:D278N	ENSP00000340510:D278N	D	-	1	0	0	PPL	4889059	4889059	0.998000	0.40836	0.811000	0.32455	0.441000	0.31987	3.919000	0.56439	1.126000	0.42016	0.561000	0.74099	GAC		0.632	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1		59.787848	-30	-30	91	91	NM_002705		21	60.964744	60.964744	39	0.350000	0	0	0	1	0	21	39	0.35
CFAP43	80217	broad.mit.edu	37	10	105971913	105971913	+	Missense_Mutation	SNP	G	G	A	rs371285570		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr10:105971913G>A	ENST00000278064.2	-	5	702	c.377C>T	c.(376-378)tCg>tTg	p.S126L	WDR96_ENST00000369719.1_Missense_Mutation_p.S126L|WDR96_ENST00000369720.1_Missense_Mutation_p.S126L|WDR96_ENST00000357060.3_Missense_Mutation_p.S196L|WDR96_ENST00000428666.1_Missense_Mutation_p.S196L																NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TAATTTCACCGACCTGTAGAC	0.428																																						ENST00000357060.3											0			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(586-588)tCg>tTg	WD repeat domain 96	G	LEU/SER	0,4406		0,0,2203	55.0	53.0	54.0		587	1.3	0.0	10		54	2,8598	2.2+/-6.3	0,2,4298	no	missense	WDR96	NM_025145.5	145	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	196/1666	105971913	2,13004	2203	4300	6503	SO:0001583	missense	80217						g.chr10:105971913G>A																																																	ENST00000278064.2:c.377C>T	10.37:g.105971913G>A	ENSP00000278064:p.Ser126Leu		WDR96_ENST00000369719.1_Missense_Mutation_p.S126L|WDR96_ENST00000278064.2_Missense_Mutation_p.S126L|WDR96_ENST00000369720.1_Missense_Mutation_p.S126L|WDR96_ENST00000428666.1_Missense_Mutation_p.S196L	p.S196L	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN			5	702	-			196			Missense_Mutation	SNP	ENST00000278064.2	37	c.587C>T		.	.	.	.	.	.	.	.	.	.	G	12.18	1.860622	0.32884	0.0	2.33E-4	ENSG00000197748	ENST00000357060;ENST00000428666;ENST00000278064;ENST00000369720;ENST00000369719	T;T;T;T;T	0.71579	1.5;1.5;1.5;1.5;-0.58	5.51	1.27	0.21489	5.51	1.27	0.21489	WD40 repeat-like-containing domain (1);	0.564958	0.13400	N	0.390738	T	0.57504	0.2058	L	0.43152	1.355	0.09310	N	0.999997	B;B;B	0.14805	0.011;0.004;0.005	B;B;B	0.13407	0.009;0.002;0.003	T	0.42632	-0.9440	10	0.27785	T	0.31	.	6.7757	0.23619	0.1399:0.0:0.6121:0.2479	.	196;196;196	Q8NDM7-5;B4DHB6;Q8NDM7	.;.;WDR96_HUMAN	L	196;196;126;126;126	ENSP00000349568:S196L;ENSP00000400289:S196L;ENSP00000278064:S126L;ENSP00000358734:S126L;ENSP00000358733:S126L	ENSP00000278064:S126L	S	-	2	0	0	WDR96	105961903	105961903	0.005000	0.15991	0.010000	0.14722	0.043000	0.13939	0.367000	0.20382	0.255000	0.21593	-0.137000	0.14449	TCG		0.428	WDR96-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050200.1		22.120429	0	0	49	49			10	26.105593	26.105593	39	0.204082	0	0	0	1	0	10	39	0.204082
CACNA2D1	781	broad.mit.edu	37	7	81635088	81635088	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr7:81635088C>T	ENST00000356253.5	-	17	1763	c.1508G>A	c.(1507-1509)cGt>cAt	p.R503H	CACNA2D1_ENST00000464354.1_5'UTR|CACNA2D1_ENST00000356860.3_Missense_Mutation_p.R503H			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	503	Cache.				calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.R503L(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TACTGTAAAACGTGGTGTCAG	0.358																																						ENST00000356860.3											1	Substitution - Missense(1)	kidney(1)	breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(1507-1509)cGt>cAt	calcium channel, voltage-dependent, alpha 2/delta subunit 1						126.0	119.0	121.0					7																	81635088		2203	4299	6502	SO:0001583	missense	781				voltage-gated calcium channel complex	metal ion binding	g.chr7:81635088C>T	M76559	M76559	CCDS5598.1	CCDS5598.1	7q21-q22	2014-09-17			2014-09-17			ENSG00000153956	ENSG00000153956	ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	"""Calcium channel subunits"""	1399	1399	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			114204	114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	8188232	Standard	Standard	XM_005250570	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	uc003uhr.1	P54289	P54289	OTTHUMG00000023622	OTTHUMG00000023622	ENST00000356253.5:c.1508G>A	7.37:g.81635088C>T	ENSP00000348589:p.Arg503His		CACNA2D1_ENST00000464354.1_5'UTR|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.R503H	p.R503H	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN			17	1846	-			503	Cache.	Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.1508G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.959816|3.959816	0.74016|0.74016	.|.	.|.	ENSG00000153956|ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253|ENST00000443883	T;T|.	0.07327|.	3.22;3.2|.	5.38|5.38	5.38|5.38	0.77491|0.77491	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69940|0.69940	0.3167|0.3167	L|L	0.49126|0.49126	1.545|1.545	0.80722|0.80722	D|D	1|1	B|.	0.19817|.	0.039|.	B|.	0.17979|.	0.02|.	T|T	0.66337|0.66337	-0.5949|-0.5949	10|5	0.54805|.	T|.	0.06|.	-11.1241|-11.1241	18.7374|18.7374	0.91761|0.91761	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	503|.	P54289-2|.	.|.	H|I	503|7	ENSP00000349320:R503H;ENSP00000348589:R503H|.	ENSP00000284088:R503H|.	R|V	-|-	2|1	0|0	0|0	CACNA2D1|CACNA2D1	81473024|81473024	81473024|81473024	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	7.461000|7.461000	0.80834|0.80834	2.523000|2.523000	0.85059|0.85059	0.591000|0.591000	0.81541|0.81541	CGT|GTT		0.358	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding			65.974007	4	4	75	75			21	65.974007	65.974007	21	0.500000	0	0	0	1	0	21	21	0.5
DAPK1	1612	broad.mit.edu	37	9	90219978	90219978	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:90219978C>T	ENST00000408954.3	+	3	507	c.172C>T	c.(172-174)Cgc>Tgc	p.R58C	DAPK1_ENST00000472284.1_Missense_Mutation_p.R58C|DAPK1_ENST00000469640.2_Missense_Mutation_p.R58C|DAPK1_ENST00000358077.5_Missense_Mutation_p.R58C|DAPK1_ENST00000491893.1_Missense_Mutation_p.R58C	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	58	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R58C(2)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GGGTGTGAGCCGCGAGGACAT	0.562									Chronic Lymphocytic Leukemia, Familial Clustering of																													ENST00000469640.2											2	Substitution - Missense(2)	large_intestine(2)	breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						c.(172-174)Cgc>Tgc	death-associated protein kinase 1						62.0	64.0	63.0					9																	90219978		2193	4298	6491	SO:0001583	missense	1612	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90219978C>T	X76104	X76104	CCDS43842.1	CCDS43842.1	9q34.1	2013-01-10			2013-01-10			ENSG00000196730	ENSG00000196730	ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	"""Ankyrin repeat domain containing"""	2674	2674	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600831	600831						8530096	8530096	Standard	Standard	XM_005251757	XM_005251757		Approved	DAPK	uc004apd.3	uc004apd.3	P53355	P53355	OTTHUMG00000020150	OTTHUMG00000020150	ENST00000408954.3:c.172C>T	9.37:g.90219978C>T	ENSP00000386135:p.Arg58Cys		DAPK1_ENST00000472284.1_Missense_Mutation_p.R58C|DAPK1_ENST00000408954.3_Missense_Mutation_p.R58C|DAPK1_ENST00000358077.5_Missense_Mutation_p.R58C|DAPK1_ENST00000491893.1_Missense_Mutation_p.R58C	p.R58C			P53355	DAPK1_HUMAN			3	547	+			58	Protein kinase.	B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	37	c.172C>T	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.179700	0.78564	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21	5.04	5.04	0.67666	5.04	5.04	0.67666	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.46145	D	0.000308	D	0.83839	0.5341	M	0.85630	2.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.85130	0.997;0.969;0.853	D	0.86445	0.1769	10	0.87932	D	0	.	17.55	0.87873	0.0:1.0:0.0:0.0	.	58;58;58	B7ZLE7;B7Z454;P53355	.;.;DAPK1_HUMAN	C	58	ENSP00000350785:R58C;ENSP00000417076:R58C;ENSP00000418885:R58C;ENSP00000386135:R58C;ENSP00000419026:R58C	ENSP00000350785:R58C	R	+	1	0	0	DAPK1	89409798	89409798	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	2.127000	0.42035	2.628000	0.89032	0.511000	0.50034	CGC		0.562	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1		22.595497	0	0	44	44	NM_004938		8	22.770501	22.770501	12	0.400000	0	0	0	1	0	8	12	0.4
METTL25	84190	broad.mit.edu	37	12	82752382	82752382	+	Missense_Mutation	SNP	T	T	C	rs545160060		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:82752382T>C	ENST00000248306.3	+	1	107	c.38T>C	c.(37-39)cTg>cCg	p.L13P	METTL25_ENST00000547357.1_3'UTR|CCDC59_ENST00000548126.1_Intron|CCDC59_ENST00000256151.7_5'UTR	NM_032230.2	NP_115606.2	Q8N6Q8	MET25_HUMAN	methyltransferase like 25	13							methyltransferase activity (GO:0008168)										ACCCCGGACCTGCCCACGCTG	0.622											OREG0022008	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000248306.3											0										c.(37-39)cTg>cCg	methyltransferase like 25						55.0	47.0	50.0					12																	82752382		2203	4300	6503	SO:0001583	missense	84190						g.chr12:82752382T>C	BC029120	BC029120	CCDS9024.1	CCDS9024.1	12q21.31	2012-08-13	2012-08-13	2012-08-13	2012-08-13	2012-08-13	2012-08-13	ENSG00000127720	ENSG00000127720	ENSG00000127720	ENSG00000127720				26228	26228	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""chromosome 12 open reading frame 26"""	C12orf26	"""chromosome 12 open reading frame 26"""	C12orf26				Standard	Standard	NM_032230	NM_032230		Approved	FLJ22789	uc001szq.3	uc001szq.3	Q8N6Q8	Q8N6Q8	OTTHUMG00000170252	OTTHUMG00000170252	ENST00000248306.3:c.38T>C	12.37:g.82752382T>C	ENSP00000248306:p.Leu13Pro	1216	CCDC59_ENST00000548126.1_Intron|CCDC59_ENST00000256151.7_5'UTR|METTL25_ENST00000547357.1_3'UTR	p.L13P	NM_032230.2	NP_115606.2					1	107	+					Q9H5Y3	Missense_Mutation	SNP	ENST00000248306.3	37	c.38T>C	CCDS9024.1	.	.	.	.	.	.	.	.	.	.	T	18.56	3.651132	0.67472	.	.	ENSG00000127720	ENST00000248306;ENST00000548200	T	0.38401	1.14	5.22	4.0	0.46444	5.22	4.0	0.46444	.	0.631611	0.15637	N	0.252084	T	0.49949	0.1587	M	0.76574	2.34	0.28316	N	0.922456	D	0.63880	0.993	P	0.59288	0.855	T	0.50127	-0.8864	10	0.72032	D	0.01	-6.825	4.8582	0.13570	0.0:0.0951:0.1911:0.7138	.	13	Q8N6Q8	CL026_HUMAN	P	13	ENSP00000248306:L13P	ENSP00000248306:L13P	L	+	2	0	0	C12orf26	81276513	81276513	0.843000	0.29541	0.926000	0.36857	0.918000	0.54935	2.224000	0.42945	1.972000	0.57404	0.528000	0.53228	CTG		0.622	METTL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408192.1		0.498013	0	0	40	40	NM_032230		3	6.848948	6.848948	33	0.083333	0	0	0	1	0	3	33	0.083333
ARHGEF10L	55160	broad.mit.edu	37	1	17958885	17958885	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:17958885G>A	ENST00000361221.3	+	16	1813	c.1654G>A	c.(1654-1656)Ggg>Agg	p.G552R	ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.G310R|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.G552R|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.G260R|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.G513R|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.G330R|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.G513R	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	552						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CGGTGACCGCGGGCAGCTAAT	0.592																																						ENST00000361221.3											0			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(1654-1656)Ggg>Agg	Rho guanine nucleotide exchange factor (GEF) 10-like						125.0	124.0	124.0					1																	17958885		2203	4300	6503	SO:0001583	missense	55160			regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17958885G>A	AB046846	AB046846	CCDS182.1, CCDS30617.1	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			2011-11-16			ENSG00000074964	ENSG00000074964	ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	"""Rho guanine nucleotide exchange factors"""	25540	25540	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""GrinchGEF"""	"""GrinchGEF"""	612494	612494						10997877, 16112081	10997877, 16112081	Standard	Standard	XM_005245923	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	uc001ban.3	Q9HCE6	Q9HCE6	OTTHUMG00000002514	OTTHUMG00000002514	ENST00000361221.3:c.1654G>A	1.37:g.17958885G>A	ENSP00000355060:p.Gly552Arg		ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.G310R|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.G552R|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.G513R|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.G330R|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.G513R|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.G260R	p.G552R	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	16	1813	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	552		B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	ENST00000361221.3	37	c.1654G>A	CCDS182.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951786	0.73787	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415;ENST00000375420;ENST00000375408;ENST00000457829;ENST00000167825	T;T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26;2.26	5.44	5.44	0.79542	5.44	5.44	0.79542	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.45756	0.1358	M	0.78456	2.415	0.58432	D	0.999991	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D;D	0.97110	0.999;0.998;1.0;1.0;0.999;1.0;0.956;0.927	T	0.45600	-0.9250	10	0.87932	D	0	-27.9363	17.8089	0.88609	0.0:0.0:1.0:0.0	.	330;310;552;260;318;513;513;552	Q5VXI4;B4DTE2;Q9HCE6-5;Q9HCE6-4;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;.;.;ARGAL_HUMAN	R	552;513;552;513;310;330;330;260	ENSP00000355060:G552R;ENSP00000399401:G513R;ENSP00000394621:G552R;ENSP00000364564:G513R;ENSP00000364569:G310R;ENSP00000364557:G330R;ENSP00000167825:G260R	ENSP00000167825:G260R	G	+	1	0	0	ARHGEF10L	17831472	17831472	1.000000	0.71417	0.954000	0.39281	0.243000	0.25628	9.357000	0.97099	2.545000	0.85829	0.561000	0.74099	GGG		0.592	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1		6.377963	-8	-8	132	132	NM_018125		10	23.380663	23.380663	94	0.096154	0	0	0	1	0	10	94	0.096154
JPH3	57338	broad.mit.edu	37	16	87723889	87723889	+	Silent	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr16:87723889C>T	ENST00000284262.2	+	4	2165	c.1923C>T	c.(1921-1923)gaC>gaT	p.D641D	JPH3_ENST00000563609.1_3'UTR	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	641					calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		GCTTGGGGGACGACCACCGCC	0.667																																						ENST00000284262.2											0			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(1921-1923)gaC>gaT	junctophilin 3						10.0	11.0	11.0					16																	87723889		2167	4279	6446	SO:0001819	synonymous_variant	57338			calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding	g.chr16:87723889C>T	AB042636	AB042636	CCDS10962.1	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118	ENSG00000154118	ENSG00000154118				14203	14203	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605268	605268	"""trinucleotide repeat containing 22"""	TNRC22	"""trinucleotide repeat containing 22"""	TNRC22		10949023, 10891348	10949023, 10891348	Standard	Standard	NM_020655	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	uc002fkd.4	Q8WXH2	Q8WXH2	OTTHUMG00000137656	OTTHUMG00000137656	ENST00000284262.2:c.1923C>T	16.37:g.87723889C>T			JPH3_ENST00000563609.1_3'UTR	p.D641D	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0287)	4	2165	+			641		D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Silent	SNP	ENST00000284262.2	37	c.1923C>T	CCDS10962.1																																																																																									0.667	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269108.2		11.499359	8	8	17	17			4	11.499359	11.499359	4	0.500000	0	0	0	1	0	4	4	0.5
DGKQ	1609	broad.mit.edu	37	4	955350	955350	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr4:955350C>T	ENST00000273814.3	-	21	2552	c.2479G>A	c.(2479-2481)Gac>Aac	p.D827N	DGKQ_ENST00000502309.1_5'Flank	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	827					blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to ATP (GO:0033198)|thrombin receptor signaling pathway (GO:0070493)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|phospholipase binding (GO:0043274)			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CCCCACAGGTCGGCCCCCGAG	0.692																																					Esophageal Squamous(17;537 645 4447 26373)	ENST00000273814.3											0			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9						c.(2479-2481)Gac>Aac	diacylglycerol kinase, theta 110kDa						12.0	13.0	13.0					4																	955350		2178	4285	6463	SO:0001583	missense	1609			activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding	g.chr4:955350C>T	L38707	L38707	CCDS3342.1	CCDS3342.1	4p16.3	2008-08-29	2002-08-29		2008-08-29	2002-08-29		ENSG00000145214	ENSG00000145214	ENSG00000145214	ENSG00000145214				2856	2856	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601207	601207	"""diacylglycerol kinase, theta (110kD)"""	DAGK4	"""diacylglycerol kinase, theta (110kD)"""	DAGK4		8617502, 9099683	8617502, 9099683	Standard	Standard	NM_001347	NM_001347		Approved	DAGK, DAGK7	uc003gbw.4	uc003gbw.4	P52824	P52824	OTTHUMG00000088629	OTTHUMG00000088629	ENST00000273814.3:c.2479G>A	4.37:g.955350C>T	ENSP00000273814:p.Asp827Asn			p.D827N	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		21	2552	-			827		Q6P3W4	Missense_Mutation	SNP	ENST00000273814.3	37	c.2479G>A	CCDS3342.1	.	.	.	.	.	.	.	.	.	.	C	8.004	0.756020	0.15846	.	.	ENSG00000145214	ENST00000273814;ENST00000515182	T;T	0.29917	1.55;1.55	5.32	4.48	0.54585	5.32	4.48	0.54585	Diacylglycerol kinase, accessory domain (2);	0.044570	0.85682	N	0.000000	T	0.22513	0.0543	N	0.01809	-0.71	0.58432	D	0.999998	D;D	0.89917	0.974;1.0	P;D	0.91635	0.763;0.999	T	0.20840	-1.0263	10	0.02654	T	1	.	11.3869	0.49791	0.0:0.9115:0.0:0.0884	.	827;827	E9KL49;P52824	.;DGKQ_HUMAN	N	827;42	ENSP00000273814:D827N;ENSP00000421756:D42N	ENSP00000273814:D827N	D	-	1	0	0	DGKQ	945350	945350	1.000000	0.71417	0.898000	0.35279	0.162000	0.22319	5.204000	0.65180	1.251000	0.43983	0.556000	0.70494	GAC		0.692	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000200888.1		22.629577	-7	-7	10	10			7	23.268906	23.268906	2	0.777778	0	0	0	1	0	7	2	0.777778
ARMCX1	51309	broad.mit.edu	37	X	100808010	100808010	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chrX:100808010G>A	ENST00000372829.3	+	4	468	c.97G>A	c.(97-99)Gag>Aag	p.E33K		NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	33						integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						GGGAAGAGACGAGAACGAGAA	0.572																																						ENST00000372829.3											0			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						c.(97-99)Gag>Aag	armadillo repeat containing, X-linked 1						78.0	68.0	72.0					X																	100808010		2203	4300	6503	SO:0001583	missense	51309				integral to membrane	binding	g.chrX:100808010G>A	AB039670	AB039670	CCDS14487.1	CCDS14487.1	Xq21.33-q22.2	2014-03-21			2014-03-21			ENSG00000126947	ENSG00000126947	ENSG00000126947	ENSG00000126947		"""Armadillo repeat containing"""	"""Armadillo repeat containing"""	18073	18073	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300362	300362						11162520, 16221301, 22569362	11162520, 16221301, 22569362	Standard	Standard	NM_016608	NM_016608		Approved	ALEX1, GASP7	uc004ehv.3	uc004ehv.3	Q9P291	Q9P291	OTTHUMG00000022033	OTTHUMG00000022033	ENST00000372829.3:c.97G>A	X.37:g.100808010G>A	ENSP00000361917:p.Glu33Lys			p.E33K	NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN			4	468	+			33		Q53HK2|Q9H2Q0	Missense_Mutation	SNP	ENST00000372829.3	37	c.97G>A	CCDS14487.1	.	.	.	.	.	.	.	.	.	.	g	17.02	3.282336	0.59867	.	.	ENSG00000126947	ENST00000372829	T	0.23348	1.91	3.6	3.6	0.41247	3.6	3.6	0.41247	.	0.809987	0.10763	N	0.636898	T	0.28400	0.0702	N	0.12182	0.205	0.29300	N	0.868781	D	0.76494	0.999	D	0.68621	0.959	T	0.09751	-1.0660	10	0.23891	T	0.37	-10.2104	9.701	0.40187	0.0:0.0:1.0:0.0	.	33	Q9P291	ARMX1_HUMAN	K	33	ENSP00000361917:E33K	ENSP00000361917:E33K	E	+	1	0	0	ARMCX1	100694666	100694666	0.991000	0.36638	0.848000	0.33437	0.580000	0.36256	2.394000	0.44450	2.036000	0.60181	0.544000	0.68410	GAG		0.572	ARMCX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057561.1		0.601473	-8	-8	44	44	NM_016608		3	6.428303	6.428303	31	0.088235	0	0	0	1	0	3	31	0.088235
DAK	26007	broad.mit.edu	37	11	61106798	61106798	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr11:61106798G>A	ENST00000394900.3	+	5	606	c.377G>A	c.(376-378)cGg>cAg	p.R126Q		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	126	DhaK. {ECO:0000255|PROSITE- ProRule:PRU00814}.				carbohydrate phosphorylation (GO:0046835)|cellular carbohydrate metabolic process (GO:0044262)|glycerol metabolic process (GO:0006071)|innate immune response (GO:0045087)|regulation of innate immune response (GO:0045088)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|FAD-AMP lyase (cyclizing) activity (GO:0034012)|glycerone kinase activity (GO:0004371)|metal ion binding (GO:0046872)|triokinase activity (GO:0050354)			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						GAGCAGGCCCGGGCTGAAGGC	0.662																																						ENST00000394900.3											0			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(376-378)cGg>cAg	dihydroxyacetone kinase 2 homolog (S. cerevisiae)						54.0	59.0	57.0					11																	61106798		2203	4299	6502	SO:0001583	missense	26007			glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding	g.chr11:61106798G>A			CCDS8003.1	CCDS8003.1	11q12.2	2009-11-06	2006-04-04		2009-11-06	2006-04-04		ENSG00000149476	ENSG00000149476	ENSG00000149476	ENSG00000149476				24552	24552	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615844	615844	"""dihydroxyacetone kinase 2 homolog (yeast)"""		"""dihydroxyacetone kinase 2 homolog (yeast)"""					Standard	Standard	XM_005273898	XM_005273898		Approved	DKFZP586B1621, NET45	uc001nre.3	uc001nre.3	Q3LXA3	Q3LXA3	OTTHUMG00000168076	OTTHUMG00000168076	ENST00000394900.3:c.377G>A	11.37:g.61106798G>A	ENSP00000378360:p.Arg126Gln			p.R126Q	NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN			5	606	+			126	DhaK.	Q2L9C1|Q53EQ9|Q9BVA7|Q9H895	Missense_Mutation	SNP	ENST00000394900.3	37	c.377G>A	CCDS8003.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338840	0.60963	.	.	ENSG00000149476	ENST00000394900;ENST00000532173;ENST00000529479	T;T;T	0.31769	1.48;1.48;1.48	5.25	-0.792	0.10925	5.25	-0.792	0.10925	Dak kinase (2);	0.250144	0.40640	N	0.001042	T	0.25531	0.0621	L	0.55017	1.72	0.32060	N	0.595796	B;B	0.20988	0.05;0.031	B;B	0.29942	0.07;0.109	T	0.13656	-1.0501	10	0.41790	T	0.15	-4.3986	6.2213	0.20683	0.3734:0.0:0.5147:0.1119	.	126;126	Q2L9C1;Q3LXA3	.;DHAK_HUMAN	Q	126;126;125	ENSP00000378360:R126Q;ENSP00000431844:R126Q;ENSP00000432539:R125Q	ENSP00000378360:R126Q	R	+	2	0	0	DAK	60863374	60863374	1.000000	0.71417	0.952000	0.39060	0.962000	0.63368	1.860000	0.39428	-0.457000	0.07033	-0.263000	0.10527	CGG		0.662	DAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394425.4		76.505820	5	5	94	94	NM_015533		28	80.211995	80.211995	68	0.291667	0	0	0	1	0	28	68	0.291667
SIPA1L3	23094	broad.mit.edu	37	19	38573659	38573659	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:38573659C>T	ENST00000222345.6	+	3	1963	c.1454C>T	c.(1453-1455)aCg>aTg	p.T485M		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	485					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CAGCAGCGGACGCAGAGTCGG	0.662																																						ENST00000222345.6											0			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(1453-1455)aCg>aTg	signal-induced proliferation-associated 1 like 3						29.0	34.0	32.0					19																	38573659		2203	4300	6503	SO:0001583	missense	23094			regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38573659C>T	AB011117	AB011117	CCDS33007.1	CCDS33007.1	19q13.13	2008-02-05			2008-02-05			ENSG00000105738	ENSG00000105738	ENSG00000105738	ENSG00000105738				23801	23801	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	XM_005258671	XM_005258671		Approved	KIAA0545	uc002ohk.3	uc002ohk.3	O60292	O60292	OTTHUMG00000073727	OTTHUMG00000073727	ENST00000222345.6:c.1454C>T	19.37:g.38573659C>T	ENSP00000222345:p.Thr485Met			p.T485M	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		3	1963	+			485		Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.1454C>T	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.161874	0.38217	.	.	ENSG00000105738	ENST00000222345	T	0.75704	-0.96	5.15	4.08	0.47627	5.15	4.08	0.47627	.	0.178179	0.49916	D	0.000138	T	0.47135	0.1429	N	0.08118	0	0.09310	N	0.999999	P	0.35348	0.496	B	0.26202	0.067	T	0.38607	-0.9653	10	0.34782	T	0.22	-18.1799	7.689	0.28557	0.1427:0.5259:0.3313:0.0	.	485	O60292	SI1L3_HUMAN	M	485	ENSP00000222345:T485M	ENSP00000222345:T485M	T	+	2	0	0	SIPA1L3	43265499	43265499	0.006000	0.16342	0.990000	0.47175	0.815000	0.46073	1.828000	0.39111	2.411000	0.81874	0.563000	0.77884	ACG		0.662	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2		13.230275	-11	-11	29	29	XM_032278		6	16.368576	16.368576	27	0.181818	0	0	0	1	0	6	27	0.181818
ATP1A2	477	broad.mit.edu	37	1	160105664	160105664	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr1:160105664G>A	ENST00000361216.3	+	17	2409	c.2320G>A	c.(2320-2322)Gcc>Acc	p.A774T	ATP1A2_ENST00000392233.3_Missense_Mutation_p.A774T	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	774					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GAAATCCATCGCCTACACCCT	0.567																																						ENST00000361216.3											0			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69						c.(2320-2322)Gcc>Acc	ATPase, Na+/K+ transporting, alpha 2 polypeptide						168.0	144.0	152.0					1																	160105664		2203	4300	6503	SO:0001583	missense	477			ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160105664G>A	AB018321	AB018321	CCDS1196.1	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	"""ATPases / P-type"""	800	800	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	9403481	Standard	Standard	NM_000702	NM_000702		Approved	FHM2	uc001fvc.3	uc001fvc.3	P50993	P50993	OTTHUMG00000024080	OTTHUMG00000024080	ENST00000361216.3:c.2320G>A	1.37:g.160105664G>A	ENSP00000354490:p.Ala774Thr		ATP1A2_ENST00000392233.3_Missense_Mutation_p.A774T	p.A774T	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		17	2409	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		774		D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	c.2320G>A	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.324867	0.81580	.	.	ENSG00000018625	ENST00000361216;ENST00000392233;ENST00000435866	D;D	0.88664	-2.41;-2.41	4.35	4.35	0.52113	4.35	4.35	0.52113	ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	T	0.77405	0.4125	L	0.31752	0.955	0.80722	D	1	P;B	0.40032	0.699;0.346	B;B	0.36244	0.22;0.07	T	0.82566	-0.0393	10	0.56958	D	0.05	.	16.155	0.81657	0.0:0.0:1.0:0.0	.	674;774	F5GXJ7;P50993	.;AT1A2_HUMAN	T	774;774;477	ENSP00000354490:A774T;ENSP00000376066:A774T	ENSP00000354490:A774T	A	+	1	0	0	ATP1A2	158372288	158372288	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.601000	0.98297	2.401000	0.81631	0.555000	0.69702	GCC		0.567	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2		52.442010	-36	-36	151	151	NM_000702		21	55.706856	55.706856	54	0.280000	0	0	0	1	0	21	54	0.28
ZNF367	195828	broad.mit.edu	37	9	99157146	99157146	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr9:99157146C>T	ENST00000375256.4	-	3	946	c.650G>A	c.(649-651)cGt>cAt	p.R217H		NM_153695.3	NP_710162.1	Q7RTV3	ZN367_HUMAN	zinc finger protein 367	217					regulation of transcription from RNA polymerase II promoter (GO:0006357)|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)			cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12		Acute lymphoblastic leukemia(62;0.0167)				GGTGTGAAGACGCTGATGTGT	0.388																																						ENST00000375256.4											0			cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12						c.(649-651)cGt>cAt	zinc finger protein 367						96.0	88.0	91.0					9																	99157146		2203	4300	6503	SO:0001583	missense	195828			regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:99157146C>T	AK091289	AK091289	CCDS6718.1	CCDS6718.1	9q22	2008-05-02			2008-05-02			ENSG00000165244	ENSG00000165244	ENSG00000165244	ENSG00000165244		"""Zinc fingers, C2H2-type"""	"""Zinc fingers, C2H2-type"""	18320	18320	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610160	610160								Standard	Standard	NM_153695	NM_153695		Approved	FLJ33970	uc004awf.3	uc004awf.3	Q7RTV3	Q7RTV3	OTTHUMG00000020295	OTTHUMG00000020295	ENST00000375256.4:c.650G>A	9.37:g.99157146C>T	ENSP00000364405:p.Arg217His			p.R217H	NM_153695.3	NP_710162.1	Q7RTV3	ZN367_HUMAN			3	946	-		Acute lymphoblastic leukemia(62;0.0167)	217		Q6Q7C8	Missense_Mutation	SNP	ENST00000375256.4	37	c.650G>A	CCDS6718.1	.	.	.	.	.	.	.	.	.	.	C	34	5.334771	0.95758	.	.	ENSG00000165244	ENST00000375256	T	0.25749	1.78	5.1	5.1	0.69264	5.1	5.1	0.69264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.51753	0.1693	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.53613	-0.8414	10	0.87932	D	0	-10.4563	18.7044	0.91632	0.0:1.0:0.0:0.0	.	217;217	Q7RTV3-2;Q7RTV3	.;ZN367_HUMAN	H	217	ENSP00000364405:R217H	ENSP00000364405:R217H	R	-	2	0	0	ZNF367	98196967	98196967	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.289000	0.78701	2.653000	0.90120	0.650000	0.86243	CGT		0.388	ZNF367-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053266.1		65.065571	12	12	86	86			21	65.485682	65.485682	31	0.403846	0	0	0	1	0	21	31	0.403846
LY6G6C	80740	broad.mit.edu	37	6	31687914	31687914	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:31687914C>T	ENST00000375819.2	-	2	284	c.119G>A	c.(118-120)cGc>cAc	p.R40H	LY6G6C_ENST00000495859.1_5'UTR	NM_025261.2	NP_079537.1	O95867	LY66C_HUMAN	lymphocyte antigen 6 complex, locus G6C	40	UPAR/Ly6.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|large_intestine(1)|lung(1)|skin(1)	4						TGGCTCCAGGCGGCAGGACTG	0.587																																						ENST00000375819.2											0			NS(1)|large_intestine(1)|lung(1)|skin(1)	4						c.(118-120)cGc>cAc	lymphocyte antigen 6 complex, locus G6C						162.0	116.0	132.0					6																	31687914		1510	2709	4219	SO:0001583	missense	80740				anchored to membrane|plasma membrane		g.chr6:31687914C>T			CCDS4714.1	CCDS4714.1	6p21	2008-08-29	2002-07-29	2002-08-01	2008-08-29	2002-07-29	2002-08-01	ENSG00000204421	ENSG00000204421	ENSG00000204421	ENSG00000204421				13936	13936	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610435	610435	"""chromosome 6 open reading frame 24"""	C6orf24	"""chromosome 6 open reading frame 24"""	C6orf24		10384126, 12079290	10384126, 12079290	Standard	Standard	NM_025261	NM_025261		Approved	G6c, NG24	uc003nwh.3	uc003nwh.3	O95867	O95867	OTTHUMG00000031251	OTTHUMG00000031251	ENST00000375819.2:c.119G>A	6.37:g.31687914C>T	ENSP00000364978:p.Arg40His		LY6G6C_ENST00000495859.1_5'UTR	p.R40H	NM_025261.2	NP_079537.1	O95867	LY66C_HUMAN			2	284	-			40	UPAR/Ly6.	Q5SRS8|Q8IY94	Missense_Mutation	SNP	ENST00000375819.2	37	c.119G>A	CCDS4714.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.300568	0.60195	.	.	ENSG00000204421	ENST00000375819	D	0.90324	-2.65	5.34	-2.74	0.05932	5.34	-2.74	0.05932	.	0.199909	0.25456	N	0.030553	T	0.65196	0.2668	N	0.24115	0.695	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.60239	-0.7302	10	0.72032	D	0.01	-30.6231	4.8661	0.13609	0.536:0.2078:0.0:0.2562	.	40	O95867	LY66C_HUMAN	H	40	ENSP00000364978:R40H	ENSP00000364978:R40H	R	-	2	0	0	LY6G6C	31795893	31795893	0.001000	0.12720	0.747000	0.31113	0.987000	0.75469	-1.321000	0.02697	-0.412000	0.07519	0.591000	0.81541	CGC		0.587	LY6G6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076530.2		37.231391	-14	-14	77	77			14	38.948249	38.948249	33	0.297872	0	0	0	1	0	14	33	0.297872
SLC25A12	8604	broad.mit.edu	37	2	172641886	172641886	+	Silent	SNP	C	C	T	rs369901246		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:172641886C>T	ENST00000422440.2	-	18	1972	c.1935G>A	c.(1933-1935)acG>acA	p.T645T	SLC25A12_ENST00000392592.4_Silent_p.T538T	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	645					aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	TGCCTGCAAACGTGGCTGTGG	0.517																																						ENST00000422440.2											0			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23						c.(1933-1935)acG>acA	solute carrier family 25 (aspartate/glutamate carrier), member 12	C		1,4405	2.1+/-5.4	0,1,2202	177.0	163.0	168.0		1935	0.7	1.0	2		168	0,8600		0,0,4300	no	coding-synonymous	SLC25A12	NM_003705.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		645/679	172641886	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8604			gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding	g.chr2:172641886C>T	Y14494	Y14494	CCDS33327.1	CCDS33327.1	2q24	2013-05-22	2012-03-29		2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840	ENSG00000115840	ENSG00000115840		"""Solute carriers"", ""EF-hand domain containing"""	"""Solute carriers"", ""EF-hand domain containing"""	10982	10982	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603667	603667	"""solute carrier family 25 (mitochondrial carrier, Aralar), member 12"""		"""solute carrier family 25 (mitochondrial carrier, Aralar), member 12"""			9722566, 10702666, 11566871	9722566, 10702666, 11566871	Standard	Standard	NM_003705	NM_003705		Approved	Aralar	uc002uhh.3	uc002uhh.3	O75746	O75746	OTTHUMG00000134290	OTTHUMG00000134290	ENST00000422440.2:c.1935G>A	2.37:g.172641886C>T			SLC25A12_ENST00000392592.4_Silent_p.T538T	p.T645T	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		18	1972	-			645		B3KR64|Q96AM8	Silent	SNP	ENST00000422440.2	37	c.1935G>A	CCDS33327.1																																																																																									0.517	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259010.2		38.459041	18	18	99	99	NM_003705		16	44.152518	44.152518	59	0.213333	0	0	0	1	0	16	59	0.213333
XAB2	56949	ucsc.edu	37	19	7685536	7685536	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:7685536G>A	ENST00000358368.4	-	15	2028	c.1991C>T	c.(1990-1992)gCg>gTg	p.A664V	XAB2_ENST00000534844.1_Missense_Mutation_p.A661V	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	664					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CATCTCACGCGCGTGCTCGTC	0.662								Direct reversal of damage;Nucleotide excision repair (NER)																																									0																	33.0	34.0	34.0					19																	7685536		2203	4300	6503	SO:0001583	missense	56949							AB026111	AB026111	CCDS32892.1	CCDS32892.1	19p13.3	2013-08-21			2013-08-21				ENSG00000076924		ENSG00000076924				14089	14089	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""SYF1 homolog, RNA splicing factor (S. cerevisiae)"", ""SYF1 pre-mRNA-splicing factor"""	"""SYF1 homolog, RNA splicing factor (S. cerevisiae)"", ""SYF1 pre-mRNA-splicing factor"""	610850	610850						10944529	10944529	Standard	Standard	NM_020196	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	uc002mgx.3	Q9HCS7	Q9HCS7			ENST00000358368.4:c.1991C>T	19.37:g.7685536G>A	ENSP00000351137:p.Ala664Val																	Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Missense_Mutation	SNP	ENST00000358368.4	37		CCDS32892.1	.	.	.	.	.	.	.	.	.	.	G	8.058	0.767491	0.15983	.	.	ENSG00000076924	ENST00000358368;ENST00000534844	T;T	0.42900	0.96;0.96	4.31	3.26	0.37387	4.31	3.26	0.37387	Tetratricopeptide-like helical (1);	0.142130	0.46145	N	0.000312	T	0.32941	0.0846	L	0.49571	1.57	0.50632	D	0.999885	B	0.28584	0.216	B	0.19666	0.026	T	0.09378	-1.0677	10	0.24483	T	0.36	-25.3541	11.0621	0.47953	0.0929:0.0:0.9071:0.0	.	664	Q9HCS7	SYF1_HUMAN	V	664;661	ENSP00000351137:A664V;ENSP00000438225:A661V	ENSP00000351137:A664V	A	-	2	0	0	XAB2	7591536	7591536	0.832000	0.29368	0.839000	0.33178	0.046000	0.14306	3.857000	0.55972	1.018000	0.39521	0.460000	0.39030	GCG		0.662	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1			-3	-3	57	57	NM_020196		5			35							5	35	
ALMS1	7840	broad.mit.edu	37	2	73828485	73828485	+	Silent	SNP	C	C	T	rs370981817		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr2:73828485C>T	ENST00000264448.6	+	19	12144	c.12033C>T	c.(12031-12033)gaC>gaT	p.D4011D	ALMS1_ENST00000464408.2_3'UTR|ALMS1_ENST00000409009.1_Silent_p.D3969D	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	4011					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AGCACCTGGACGGTCGGGGCT	0.592																																						ENST00000264448.6											0			breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(12031-12033)gaC>gaT	Alstrom syndrome 1	C		0,4396		0,0,2198	51.0	59.0	57.0		12033	-5.9	0.0	2		57	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	ALMS1	NM_015120.4		0,1,6495	TT,TC,CC		0.0116,0.0,0.0077		4011/4168	73828485	1,12991	2198	4298	6496	SO:0001819	synonymous_variant	7840			G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73828485C>T	AB002326	AB002326	CCDS42697.1	CCDS42697.1	2p13.1	2014-09-17			2014-09-17			ENSG00000116127	ENSG00000116127	ENSG00000116127	ENSG00000116127				428	428	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606844	606844						9063741	9063741	Standard	Standard	NM_015120	NM_015120		Approved	KIAA0328	uc002sje.1	uc002sje.1	Q8TCU4	Q8TCU4	OTTHUMG00000152812	OTTHUMG00000152812	ENST00000264448.6:c.12033C>T	2.37:g.73828485C>T			ALMS1_ENST00000409009.1_Silent_p.D3969D|ALMS1_ENST00000464408.2_3'UTR	p.D4011D	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN			19	12144	+			4011		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	ENST00000264448.6	37	c.12033C>T	CCDS42697.1																																																																																									0.592	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1		6.346896	-2	-2	60	60	NM_015120		5	12.575331	12.575331	38	0.116279	0	0	0	1	0	5	38	0.116279
SLC6A12	6539	broad.mit.edu	37	12	319146	319146	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:319146C>T	ENST00000428720.1	-	3	750	c.7G>A	c.(7-9)Ggg>Agg	p.G3R	SLC6A12_ENST00000397296.2_Missense_Mutation_p.G3R|SLC6A12_ENST00000359674.4_Missense_Mutation_p.G3R|SLC6A12_ENST00000536824.1_Missense_Mutation_p.G3R|SLC6A12_ENST00000424061.2_Missense_Mutation_p.G3R	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	3					amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			GCCACCTTCCCGTCCATGGCT	0.607																																						ENST00000428720.1											0			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26						c.(7-9)Ggg>Agg	solute carrier family 6 (neurotransmitter transporter), member 12						63.0	54.0	57.0					12																	319146		2203	4300	6503	SO:0001583	missense	6539			cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:319146C>T	L42300	L42300	CCDS8501.1	CCDS8501.1	12p13	2013-07-19	2013-07-19		2013-07-19	2013-07-19		ENSG00000111181	ENSG00000111181	ENSG00000111181	ENSG00000111181		"""Solute carriers"""	"""Solute carriers"""	11045	11045	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""betaine/GABA transporter-1"""	"""betaine/GABA transporter-1"""	603080	603080	"""solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12"""		"""solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12"""			7589472	7589472	Standard	Standard	NM_003044	NM_003044		Approved	BGT-1	uc009zdh.2	uc009zdh.2	P48065	P48065	OTTHUMG00000090309	OTTHUMG00000090309	ENST00000428720.1:c.7G>A	12.37:g.319146C>T	ENSP00000388184:p.Gly3Arg		SLC6A12_ENST00000359674.4_Missense_Mutation_p.G3R|SLC6A12_ENST00000536824.1_Missense_Mutation_p.G3R|SLC6A12_ENST00000424061.2_Missense_Mutation_p.G3R|SLC6A12_ENST00000397296.2_Missense_Mutation_p.G3R	p.G3R	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00227)		3	750	-	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		3		A0AV52|B2R992|D3DUN8	Missense_Mutation	SNP	ENST00000428720.1	37	c.7G>A	CCDS8501.1	.	.	.	.	.	.	.	.	.	.	C	8.125	0.781842	0.16120	.	.	ENSG00000111181	ENST00000359674;ENST00000397296;ENST00000428720;ENST00000424061;ENST00000536824;ENST00000537793;ENST00000535347	T;T;T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61;-0.33;1.0	5.63	0.973	0.19710	5.63	0.973	0.19710	.	1.223420	0.06279	N	0.697043	T	0.47637	0.1456	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.28299	-1.0048	10	0.29301	T	0.29	.	4.8536	0.13549	0.1418:0.2934:0.0:0.5648	.	3	P48065	S6A12_HUMAN	R	3	ENSP00000352702:G3R;ENSP00000380464:G3R;ENSP00000388184:G3R;ENSP00000399136:G3R;ENSP00000444268:G3R;ENSP00000439351:G3R;ENSP00000446082:G3R	ENSP00000352702:G3R	G	-	1	0	0	SLC6A12	189407	189407	0.000000	0.05858	0.006000	0.13384	0.020000	0.10135	-0.018000	0.12568	0.081000	0.16988	0.563000	0.77884	GGG		0.607	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206671.2		20.219424	-2	-2	24	24	NM_003044		7	20.616251	20.616251	13	0.350000	0	0	0	1	0	7	13	0.35
PDZD2	23037	broad.mit.edu	37	5	32090677	32090677	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:32090677G>A	ENST00000438447.1	+	20	7511	c.7123G>A	c.(7123-7125)Ggc>Agc	p.G2375S	PDZD2_ENST00000282493.3_Missense_Mutation_p.G2375S			O15018	PDZD2_HUMAN	PDZ domain containing 2	2375					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GCGGTCTTCCGGCAGCATTGT	0.597																																						ENST00000438447.1											0			NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(7123-7125)Ggc>Agc	PDZ domain containing 2						33.0	36.0	35.0					5																	32090677		2203	4300	6503	SO:0001583	missense	23037			cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32090677G>A	AB002298	AB002298	CCDS34137.1	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401		ENSG00000133401				18486	18486	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610697	610697	"""PDZ domain containing 3"""	PDZK3	"""PDZ domain containing 3"""	PDZK3		9205841	9205841	Standard	Standard	XM_005248271	XM_005248271		Approved	KIAA0300	uc003jhm.3	uc003jhm.3	O15018	O15018			ENST00000438447.1:c.7123G>A	5.37:g.32090677G>A	ENSP00000402033:p.Gly2375Ser		PDZD2_ENST00000282493.3_Missense_Mutation_p.G2375S	p.G2375S			O15018	PDZD2_HUMAN			20	7511	+			2375		Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.7123G>A	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.363700	0.61513	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.54675	0.56;0.56	5.15	4.28	0.50868	5.15	4.28	0.50868	.	0.120727	0.37955	N	0.001864	T	0.67785	0.2930	M	0.71581	2.175	0.39987	D	0.974999	D	0.89917	1.0	D	0.91635	0.999	T	0.67063	-0.5765	10	0.27785	T	0.31	.	11.3637	0.49660	0.0887:0.0:0.9113:0.0	.	2375	O15018	PDZD2_HUMAN	S	2375;2176;2375	ENSP00000402033:G2375S;ENSP00000282493:G2375S	ENSP00000282493:G2375S	G	+	1	0	0	PDZD2	32126434	32126434	1.000000	0.71417	0.633000	0.29310	0.233000	0.25261	3.440000	0.52886	1.159000	0.42565	0.561000	0.74099	GGC		0.597	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1		10.825999	7	7	47	47			6	15.521943	15.521943	34	0.150000	0	0	0	1	0	6	34	0.15
PCDHA6	56142	broad.mit.edu	37	5	140209242	140209242	+	Silent	SNP	G	G	A			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:140209242G>A	ENST00000529310.1	+	1	1680	c.1566G>A	c.(1564-1566)ccG>ccA	p.P522P	PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Silent_p.P522P|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	522	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGCAGCCGCTGGACCACG	0.682																																						ENST00000529310.1											0			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(1564-1566)ccG>ccA							68.0	79.0	75.0					5																	140209242		2202	4291	6493	SO:0001819	synonymous_variant	0						g.chr5:140209242G>A	AF152484	AF152484	CCDS47281.1, CCDS47282.1	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			2010-11-26			ENSG00000081842	ENSG00000081842	ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	"""Cadherins / Protocadherins : Clustered"""	8672	8672	other	complex locus constituent	other	complex locus constituent	"""KIAA0345-like 8"""	"""KIAA0345-like 8"""	606312	606312		CNRS2		CNRS2		10380929, 10662547	10380929, 10662547	Standard	Standard	NM_018909	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6			Q9UN73	Q9UN73	OTTHUMG00000163353	OTTHUMG00000163353	ENST00000529310.1:c.1566G>A	5.37:g.140209242G>A			PCDHA6_ENST00000527624.1_Silent_p.P522P|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	p.P522P	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1680	+					O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	c.1566G>A	CCDS47281.1																																																																																									0.682	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3		-25.217087	-40	-40	164	164	NM_018909		4	7.306372	7.306372	130	0.029851	0	0	0	1	0	4	130	0.029851
NSD1	64324	broad.mit.edu	37	5	176637574	176637574	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr5:176637574C>T	ENST00000439151.2	+	5	2219	c.2174C>T	c.(2173-2175)aCg>aTg	p.T725M	NSD1_ENST00000354179.4_Missense_Mutation_p.T456M|NSD1_ENST00000361032.4_Missense_Mutation_p.T622M|NSD1_ENST00000347982.4_Missense_Mutation_p.T456M	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	725					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GGAACCGAGACGTCTCAGGTT	0.423			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2		Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(2173-2175)aCg>aTg	nuclear receptor binding SET domain protein 1						73.0	74.0	74.0					5																	176637574		2203	4300	6503	SO:0001583	missense	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176637574C>T	AK026066	AK026066	CCDS4412.1, CCDS4413.1	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671	ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	14234	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606681	606681	"""Sotos syndrome"""	STO	"""Sotos syndrome"""	STO		9628876, 11896389	9628876, 11896389	Standard	Standard	NM_022455	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	uc003mfr.4	Q96L73	Q96L73	OTTHUMG00000130846	OTTHUMG00000130846	ENST00000439151.2:c.2174C>T	5.37:g.176637574C>T	ENSP00000395929:p.Thr725Met		NSD1_ENST00000354179.4_Missense_Mutation_p.T456M|NSD1_ENST00000347982.4_Missense_Mutation_p.T456M|NSD1_ENST00000361032.4_Missense_Mutation_p.T622M	p.T725M	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	5	2219	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	725		Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.2174C>T	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.761860	0.00651	.	.	ENSG00000165671	ENST00000354179;ENST00000355783;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.93019	-3.04;-3.05;-3.04;-3.15	5.1	-1.69	0.08186	5.1	-1.69	0.08186	.	0.639611	0.14885	N	0.292703	T	0.80444	0.4624	N	0.14661	0.345	0.09310	N	1	B;B;B	0.19445	0.013;0.036;0.007	B;B;B	0.14578	0.01;0.011;0.004	T	0.66614	-0.5879	9	.	.	.	.	0.8064	0.01084	0.2065:0.2947:0.1203:0.3786	.	456;622;725	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	M	456;456;725;456;622	ENSP00000346111:T456M;ENSP00000395929:T725M;ENSP00000343209:T456M;ENSP00000354310:T622M	.	T	+	2	0	0	NSD1	176570180	176570180	0.580000	0.26733	0.045000	0.18777	0.008000	0.06430	0.891000	0.28309	-0.134000	0.11516	-0.794000	0.03295	ACG		0.423	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2		66.475643	-10	-10	57	57	NM_172349		21	66.480953	66.480953	20	0.512195	0	0	0	1	0	21	20	0.512195
AGAP2	116986	broad.mit.edu	37	12	58125237	58125237	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr12:58125237C>T	ENST00000547588.1	-	10	2056	c.2057G>A	c.(2056-2058)cGa>cAa	p.R686Q	AGAP2_ENST00000257897.3_Missense_Mutation_p.R350Q	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	686	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						ATTGCCACTTCGTTTTAGTAG	0.473																																						ENST00000257897.3											0			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						c.(1048-1050)cGa>cAa	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2						116.0	117.0	116.0					12																	58125237		2203	4300	6503	SO:0001583	missense	116986			axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr12:58125237C>T	AF413077	AF413077	CCDS8951.1, CCDS44932.1	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439	ENSG00000135439	ENSG00000135439		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16921	16921	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605476	605476	"""centaurin, gamma 1"""	CENTG1	"""centaurin, gamma 1"""	CENTG1				Standard	Standard	NM_001122772	NM_001122772		Approved		uc001spq.3	uc001spq.3	Q99490	Q99490	OTTHUMG00000170285	OTTHUMG00000170285	ENST00000547588.1:c.2057G>A	12.37:g.58125237C>T	ENSP00000449241:p.Arg686Gln		AGAP2_ENST00000547588.1_Missense_Mutation_p.R686Q	p.R350Q	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN			10	1134	-			686	Interaction with PLCG1 (By similarity).	A8K9F7|O00578|Q548E0|Q8IWU3	Missense_Mutation	SNP	ENST00000547588.1	37	c.1049G>A	CCDS44932.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.970111	0.92855	.	.	ENSG00000135439	ENST00000257897;ENST00000547588;ENST00000549129	T;T;T	0.79141	-1.24;-1.24;-1.24	5.07	5.07	0.68467	5.07	5.07	0.68467	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	D	0.000002	D	0.83348	0.5235	L	0.37800	1.135	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;0.999;1.0	D	0.83433	0.0039	10	0.51188	T	0.08	.	17.7595	0.88460	0.0:1.0:0.0:0.0	.	350;686;686	Q99490-2;F8VVT9;Q99490	.;.;AGAP2_HUMAN	Q	350;686;42	ENSP00000257897:R350Q;ENSP00000449241:R686Q;ENSP00000446683:R42Q	ENSP00000257897:R350Q	R	-	2	0	0	AGAP2	56411504	56411504	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	7.304000	0.78882	2.818000	0.97014	0.655000	0.94253	CGA		0.473	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1		81.041729	-55	-55	79	79	NM_014770		26	81.393054	81.393054	36	0.419355	0	0	0	1	0	26	36	0.419355
UBR2	23304	broad.mit.edu	37	6	42626026	42626026	+	Missense_Mutation	SNP	G	G	A	rs147976047	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr6:42626026G>A	ENST00000372899.1	+	28	3289	c.3031G>A	c.(3031-3033)Gtg>Atg	p.V1011M	UBR2_ENST00000372901.1_Missense_Mutation_p.V1011M|UBR2_ENST00000372883.3_Missense_Mutation_p.V515M	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1011					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TACCAGTCCCGTGGCAGAGAC	0.323													G|||	2	0.000399361	0.0	0.0	5008	,	,		17164	0.0		0.002	False		,,,				2504	0.0					ENST00000372899.1											0			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64						c.(3031-3033)Gtg>Atg	ubiquitin protein ligase E3 component n-recognin 2	G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	56.0	64.0	61.0		3031	4.0	1.0	6	dbSNP_134	61	0,8600		0,0,4300	yes	missense	UBR2	NM_015255.2	21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	1011/1756	42626026	1,13005	2203	4300	6503	SO:0001583	missense	23304			cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42626026G>A	BC024217	BC024217	CCDS4870.1, CCDS55001.1	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	"""Ubiquitin protein ligase E3 component n-recognins"""	21289	21289	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609134	609134	"""chromosome 6 open reading frame 133"""	C6orf133	"""chromosome 6 open reading frame 133"""	C6orf133				Standard	Standard	NM_015255	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	uc011dur.2	Q8IWV8	Q8IWV8	OTTHUMG00000014703	OTTHUMG00000014703	ENST00000372899.1:c.3031G>A	6.37:g.42626026G>A	ENSP00000361990:p.Val1011Met		UBR2_ENST00000372883.3_Missense_Mutation_p.V515M|UBR2_ENST00000372901.1_Missense_Mutation_p.V1011M	p.V1011M	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		28	3289	+	Colorectal(47;0.196)		1011		O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	c.3031G>A	CCDS4870.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	15.46	2.840548	0.51057	2.27E-4	0.0	ENSG00000024048	ENST00000372899;ENST00000372901;ENST00000372883	T;T;T	0.49720	0.77;0.77;0.77	5.8	4.04	0.47022	5.8	4.04	0.47022	.	0.201836	0.46442	D	0.000292	T	0.39036	0.1063	L	0.54323	1.7	0.43890	D	0.996513	D;P	0.61697	0.99;0.934	P;B	0.51974	0.686;0.34	T	0.17992	-1.0351	10	0.33940	T	0.23	-4.5776	12.5366	0.56145	0.1349:0.0:0.8651:0.0	.	1011;1011	Q8IWV8-4;Q8IWV8	.;UBR2_HUMAN	M	1011;1011;515	ENSP00000361990:V1011M;ENSP00000361992:V1011M;ENSP00000361974:V515M	ENSP00000361974:V515M	V	+	1	0	0	UBR2	42734004	42734004	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	4.684000	0.61686	0.798000	0.33994	-0.244000	0.11960	GTG		0.323	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2		53.767981	0	0	59	59	NM_015255		17	54.100687	54.100687	25	0.404762	0	0	0	1	0	17	25	0.404762
SF3A2	8175	broad.mit.edu	37	19	2243426	2243426	+	Frame_Shift_Del	DEL	C	C	-			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:2243426delC	ENST00000221494.5	+	2	427	c.9delC	c.(7-9)ttcfs	p.F3fs		NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa	3					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCATGGACTTCCAGCATCGCC	0.662																																						ENST00000221494.5											0			NS(1)|large_intestine(1)|lung(2)	4						c.(7-9)ttcfs	splicing factor 3a, subunit 2, 66kDa						37.0	45.0	42.0					19																	2243426		2202	4299	6501	SO:0001589	frameshift_variant	8175			nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding	g.chr19:2243426delC	L21990	L21990	CCDS12084.1	CCDS12084.1	19p13.3	2012-10-02	2002-08-29		2012-10-02	2002-08-29		ENSG00000104897	ENSG00000104897	ENSG00000104897	ENSG00000104897				10766	10766	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600796	600796	"""splicing factor 3a, subunit 2, 66kD"""		"""splicing factor 3a, subunit 2, 66kD"""			8211113, 8541848	8211113, 8541848	Standard	Standard	NM_007165	NM_007165		Approved	SF3a66, SAP62, PRPF11, Prp11	uc002lvg.3	uc002lvg.3	Q15428	Q15428	OTTHUMG00000180414	OTTHUMG00000180414	ENST00000221494.5:c.9delC	19.37:g.2243426delC	ENSP00000221494:p.Phe3fs			p.F3fs	NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	427	+		Hepatocellular(1079;0.137)			B2RBU1|D6W605|O75245	Frame_Shift_Del	DEL	ENST00000221494.5	37	c.9delC	CCDS12084.1																																																																																									0.662	SF3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451268.3	.	.	-11	-11	35	35			9			16	0.36						9	16	0.36
SCAF1	58506	broad.mit.edu	37	19	50155567	50155569	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr19:50155567_50155569delAAG	ENST00000360565.3	+	7	2045_2047	c.1921_1923delAAG	c.(1921-1923)aagdel	p.K645del		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	645	Arg-rich.|Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		TGGCGGCAGCAAGAAGAAGAAGA	0.744																																						ENST00000360565.3											0			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20						c.(1921-1923)aagdel	SR-related CTD-associated factor 1			45,2899		7,31,1434						4.0	1.0			2	109,6037		13,83,2977	no	coding	SCAF1	NM_021228.2		20,114,4411	A1A1,A1R,RR		1.7735,1.5285,1.6942				154,8936				SO:0001651	inframe_deletion	58506			mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:50155567_50155569delAAG	AK024444	AK024444	CCDS33074.1	CCDS33074.1	19q13.3-q13.4	2011-01-10			2011-01-10			ENSG00000126461	ENSG00000126461	ENSG00000126461	ENSG00000126461				30403	30403	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										11461075	11461075	Standard	Standard	NM_021228	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	uc002poq.3	Q9H7N4	Q9H7N4			ENST00000360565.3:c.1921_1923delAAG	19.37:g.50155576_50155578delAAG	ENSP00000353769:p.Lys645del			p.K645del	NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)	7	2045_2047	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)	645	Arg-rich.|Ser-rich.	Q7Z5V7|Q8WVA1|Q9NR59	In_Frame_Del	DEL	ENST00000360565.3	37	c.1921_1923delAAG	CCDS33074.1																																																																																									0.744	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	.	.	-3	-3	4	4	NM_021228		3			3	0.50						3	3	0.5
BAP1	8314	broad.mit.edu	37	3	52437188	52437217	+	In_Frame_Del	DEL	CCAGGCCTCACCATCCCCGTCTTCTCTCTG	CCAGGCCTCACCATCCCCGTCTTCTCTCTG	-	rs35353781|rs35448940	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	g.chr3:52437188_52437217delCCAGGCCTCACCATCCCCGTCTTCTCTCTG	ENST00000460680.1	-	14	2298_2327	c.1827_1856delCAGAGAGAAGACGGGGATGGTGAGGCCTGG	c.(1825-1857)agcagagagaagacggggatggtgaggcctggc>agc	p.REKTGMVRPG610del	BAP1_ENST00000296288.5_In_Frame_Del_p.REKTGMVRPG592del	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G619D(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGG	0.609			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															GBM(101;493 1458 7992 21037 25532)	ENST00000460680.1		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	1	Substitution - Missense(1)	endometrium(1)	NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(1825-1857)agcagagagaagacggggatggtgaggcctggc>agc	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)																																			SO:0001651	inframe_deletion	8314			anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	g.chr3:52437188_52437217delCCAGGCCTCACCATCCCCGTCTTCTCTCTG	AF045581	AF045581	CCDS2853.1	CCDS2853.1	3p21.31-p21.2	2014-09-17			2014-09-17			ENSG00000163930	ENSG00000163930	ENSG00000163930	ENSG00000163930				950	950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603089	603089						9528852	9528852	Standard	Standard	NM_004656	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	uc003ddx.4	Q92560	Q92560	OTTHUMG00000158392	OTTHUMG00000158392	ENST00000460680.1:c.1827_1856delCAGAGAGAAGACGGGGATGGTGAGGCCTGG	3:g.52437188_52437217delCCAGGCCTCACCATCCCCGTCTTCTCTCTG	ENSP00000417132:p.Arg610_Gly619del		BAP1_ENST00000296288.5_In_Frame_Del_p.REKTGMVRPG592del	p.REKTGMVRPG610del	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	14	2298_2327	-			0		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	In_Frame_Del	DEL	ENST00000460680.1		c.1827_1856delCAGAGAGAAGACGGGGATGGTGAGGCCTGG	CCDS2853.1																																																																																									0.609	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1	2.004000e+01	1.641000e+01	-1	-1	59	59			4			2	7.140000e-01						4	2	0.714
